 Gene-Chemical Interaction Annotations | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Gene Ontology Annotations |
Welcome {{ username}}
Message Center
{{ messageCount }} Messages
Watched Genes
{{$index + 1}}. {{ watchedObject.symbol }} (RGD ID:{{watchedObject.rgdId}})
Watched Ontology Terms
{{gene.symbol}}: {{ gene.description }}
Save List to My RGD
| Create Name: | |
| Description: |
|
| Save what matters to you |
| {{ loginError }} |
| Sign in with your RGD account |
| Create New Account | Recover Password |
{{ watchLinkText }}
Select categories you would like to watch. Updates to this gene will be send to {{ username }}
Analyze GeneStrainQTL List |
 Gene Annotator (Functional Annotation) unavailable |
 Gene Annotator (Annotation Distribution) unavailable |
 Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable |
Gene Annotator (Functional Annotation) |
Gene Annotator (Annotation Distribution) |
Variant Visualizer (Genomic Variants) |
 InterViewer (Protein-Protein Interactions) unavailable |
 Gviewer (Genome Viewer) unavailable |
 Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable |
InterViewer (Protein-Protein Interactions) |
GViewer (Genome Viewer) |
Variant Visualizer (Damaging Variants) |
 Gene Annotator (Annotation Comparison) unavailable |
 OLGA (Gene List Generator) unavailable |
 |
Gene Annotator (Annotation Comparison) |
OLGA (Gene List Generator) |
Excel (Download) |
 MOET (Multi-Ontology Enrichement) unavailable |
 GOLF (Gene-Ortholog Location Finder) unavailable |
|
MOET (Multi-Ontology Enrichement) |
GOLF (Gene-Ortholog Location Finder) |
Gene Ontology AnnotationsDisease Annotations
|
Gene-Chemical Interaction Annotations
|
|
|
Gene Ontology AnnotationsBiological Process
|
|
Cellular Component
|
|
Molecular Function
|
|
References - curated| 1. | GOA_HUMAN data from the GO Consortium |
| 2. | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 3. | RGD automated import pipeline for gene-chemical interactions |
References - uncurated| PubMed | 11583593 11741323 12175779 12477932 14702039 14704796 15461802 16154905 16303743 16344560 17710649 19423540 20406964 20438785 22452979 28611215 |
Genomics
Comparative Map Data| SLC2A11 (Homo sapiens - human) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Slc2a11 (Chinchilla lanigera - long-tailed chinchilla) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| SLC2A11 (Pan paniscus - bonobo/pygmy chimpanzee) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| SLC2A11 (Canis lupus familiaris - dog) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Slc2a11 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| SLC2A11 (Sus scrofa - pig) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Position Markers| G27734 |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| RH93042 |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| D15S1477 |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| GDB:434012 |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| D8S2279 |
|
miRNA Target Status
Predicted Target Of
| The detailed report is available here: |  | Full Report | | CSV | | TAB | | Printer |
miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/). For more information about miRGate, see PMID:25858286 or access the full paper here. |
||||||||
Expression
Sequence
Nucleotide Sequences| RefSeq Transcripts | NM_001024938 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| NM_001024939 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_001282864 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_030807 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NR_104247 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NR_104248 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| GenBank Nucleotide | AA888149 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| AB049214 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AB067442 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AB067443 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AB067444 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AB209301 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AF443201 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AF479409 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AJ271290 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK055523 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK075467 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK092466 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK296169 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK300196 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK304409 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK308589 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK308602 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK314502 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK315937 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK316049 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AP000350 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BC018967 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BC063525 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BC094735 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BC100807 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BC100808 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BC100809 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BC100810 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| CH471095 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| CR456373 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| CS051291 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| DA084206 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| DC303452 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
Reference Sequences
| RefSeq Acc Id: | NM_001024938 ⟹ NP_001020109 | ||||||||||||||||||||||||||||||||||
| RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||||||||
| Type: | CODING | ||||||||||||||||||||||||||||||||||
| Position: |
|
||||||||||||||||||||||||||||||||||
| Sequence: |
CTATGTTTCTGTGACCACAAATAGCATCTTTGGCAAGTCTAGTTTCAGTTGGTCTTTGTCCAGChide sequence |
| RefSeq Acc Id: | NM_001024939 ⟹ NP_001020110 | ||||||||||||||||||||||||||||||||||
| RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||||||||
| Type: | CODING | ||||||||||||||||||||||||||||||||||
| Position: |
|
||||||||||||||||||||||||||||||||||
| Sequence: |
CTCACTGCGCGTGCGCTAGCGCCTCTTTCACCACTGGGCGCTGCGCGCTGCCCTTCCCTCCGCGhide sequence |
| RefSeq Acc Id: | NM_001282864 ⟹ NP_001269793 | |||||||||||||||||||
| RefSeq Status: | REVIEWED | |||||||||||||||||||
| Type: | CODING | |||||||||||||||||||
| Position: |
|
|||||||||||||||||||
| Sequence: |
ATCTTTCGGTCTTTCCTAATTTTCCCGTCCTCTGGGGAAAGGTCGGGGATACCTGAACCAAAGThide sequence |
| RefSeq Acc Id: | NM_030807 ⟹ NP_110434 | ||||||||||||||||||||||||||||||||||
| RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||||||||
| Type: | CODING | ||||||||||||||||||||||||||||||||||
| Position: |
|
||||||||||||||||||||||||||||||||||
| Sequence: |
CTATGTTTCTGTGACCACAAATAGCATCTTTGGCAAGTCTAGTTTCAGTTGGTCTTTGTCCAGChide sequence |
| RefSeq Acc Id: | NR_104247 | |||||||||||||||||||
| RefSeq Status: | REVIEWED | |||||||||||||||||||
| Type: | NON-CODING | |||||||||||||||||||
| Position: |
|
|||||||||||||||||||
| Sequence: |
CTATGTTTCTGTGACCACAAATAGCATCTTTGGCAAGTCTAGTTTCAGTTGGTCTTTGTCCAGChide sequence |
| RefSeq Acc Id: | NR_104248 | |||||||||||||||||||
| RefSeq Status: | REVIEWED | |||||||||||||||||||
| Type: | NON-CODING | |||||||||||||||||||
| Position: |
|
|||||||||||||||||||
| Sequence: |
CTATGTTTCTGTGACCACAAATAGCATCTTTGGCAAGTCTAGTTTCAGTTGGTCTTTGTCCAGChide sequence |
Protein Sequences| Protein RefSeqs | NP_001020109 | (Get FASTA) | NCBI Sequence Viewer |
| NP_001020110 | (Get FASTA) | NCBI Sequence Viewer | |
| NP_001269793 | (Get FASTA) | NCBI Sequence Viewer | |
| NP_110434 | (Get FASTA) | NCBI Sequence Viewer | |
| GenBank Protein | AAH18967 | (Get FASTA) | NCBI Sequence Viewer |
| AAH63525 | (Get FASTA) | NCBI Sequence Viewer | |
| AAH94735 | (Get FASTA) | NCBI Sequence Viewer | |
| AAI00808 | (Get FASTA) | NCBI Sequence Viewer | |
| AAI00809 | (Get FASTA) | NCBI Sequence Viewer | |
| AAI00810 | (Get FASTA) | NCBI Sequence Viewer | |
| AAI00811 | (Get FASTA) | NCBI Sequence Viewer | |
| AAL39061 | (Get FASTA) | NCBI Sequence Viewer | |
| AAL87108 | (Get FASTA) | NCBI Sequence Viewer | |
| BAB68410 | (Get FASTA) | NCBI Sequence Viewer | |
| BAB83504 | (Get FASTA) | NCBI Sequence Viewer | |
| BAB83505 | (Get FASTA) | NCBI Sequence Viewer | |
| BAB83506 | (Get FASTA) | NCBI Sequence Viewer | |
| BAC11637 | (Get FASTA) | NCBI Sequence Viewer | |
| BAD92538 | (Get FASTA) | NCBI Sequence Viewer | |
| BAG37102 | (Get FASTA) | NCBI Sequence Viewer | |
| BAG58907 | (Get FASTA) | NCBI Sequence Viewer | |
| BAG65242 | (Get FASTA) | NCBI Sequence Viewer | |
| BAH13236 | (Get FASTA) | NCBI Sequence Viewer | |
| BAH14308 | (Get FASTA) | NCBI Sequence Viewer | |
| BAH14420 | (Get FASTA) | NCBI Sequence Viewer | |
| CAC29020 | (Get FASTA) | NCBI Sequence Viewer | |
| CAG30259 | (Get FASTA) | NCBI Sequence Viewer | |
| CAI72140 | (Get FASTA) | NCBI Sequence Viewer | |
| EAW59613 | (Get FASTA) | NCBI Sequence Viewer | |
| EAW59614 | (Get FASTA) | NCBI Sequence Viewer | |
| EAW59615 | (Get FASTA) | NCBI Sequence Viewer | |
| EAW59616 | (Get FASTA) | NCBI Sequence Viewer | |
| EAW59617 | (Get FASTA) | NCBI Sequence Viewer | |
| EAW59618 | (Get FASTA) | NCBI Sequence Viewer | |
| Q9BYW1 | (Get FASTA) | NCBI Sequence Viewer |
Reference Sequences
| RefSeq Acc Id: | NP_001020109 ⟸ NM_001024938 |
| - Peptide Label: | isoform c |
| - UniProtKB: | Q9BYW1 (UniProtKB/Swiss-Prot), Q6PJ99 (UniProtKB/TrEMBL) |
| - Sequence: |
MRALRRLIQGRILLLTICAAGIGGTFQFGYNLSIINAPTLHIQEFTNETWQARTGEPLPDHLVLhide sequence |
| RefSeq Acc Id: | NP_110434 ⟸ NM_030807 |
| - Peptide Label: | isoform a |
| - UniProtKB: | Q9BYW1 (UniProtKB/Swiss-Prot) |
| - Sequence: |
MEDELEPSLRPRTQIQGRILLLTICAAGIGGTFQFGYNLSIINAPTLHIQEFTNETWQARTGEPhide sequence |
| RefSeq Acc Id: | NP_001020110 ⟸ NM_001024939 |
| - Peptide Label: | isoform b |
| - UniProtKB: | Q9BYW1 (UniProtKB/Swiss-Prot) |
| - Sequence: |
MLHALLRSRMIQGRILLLTICAAGIGGTFQFGYNLSIINAPTLHIQEFTNETWQARTGEPLPDHhide sequence |
| RefSeq Acc Id: | NP_001269793 ⟸ NM_001282864 |
| - Peptide Label: | isoform d |
| - UniProtKB: | A0A087X018 (UniProtKB/TrEMBL), B7Z6F0 (UniProtKB/TrEMBL) |
| - Sequence: |
MEDELEPSLRPRTQIQGRILLLTICAAGIGGTFQFGYNLSIINAPTLHIQEFTNETWQARTGEPhide sequence |
Promoters| RGD ID: | 6799905 | |||||||||
| Promoter ID: | HG_KWN:41971 | |||||||||
| Type: | CpG-Island | |||||||||
| SO ACC ID: | SO:0000170 | |||||||||
| Source: | MPROMDB | |||||||||
| Tissues & Cell Lines: | CD4+TCell | |||||||||
| Transcripts: | ENST00000345044 | |||||||||
| Position: |
|
| RGD ID: | 6800377 | |||||||||
| Promoter ID: | HG_KWN:41972 | |||||||||
| Type: | CpG-Island | |||||||||
| SO ACC ID: | SO:0000170 | |||||||||
| Source: | MPROMDB | |||||||||
| Tissues & Cell Lines: | CD4+TCell, CD4+TCell_12Hour, CD4+TCell_2Hour, HeLa_S3, Jurkat, K562, Lymphoblastoid, NB4 | |||||||||
| Transcripts: | ENST00000398356, ENST00000398359, ENST00000403208, ENST00000405286, ENST00000405340, ENST00000405847, ENST00000407566, NM_001024939, NM_030807, OTTHUMT00000320018, OTTHUMT00000320022, OTTHUMT00000320023, OTTHUMT00000320027, OTTHUMT00000320028, OTTHUMT00000320030, OTTHUMT00000320031, OTTHUMT00000320032, OTTHUMT00000320036, OTTHUMT00000320037, OTTHUMT00000320038, UC002ZYL.1, UC002ZYO.2 | |||||||||
| Position: |
|
| RGD ID: | 13603446 | |||||||||
| Promoter ID: | EPDNEW_H27907 | |||||||||
| Type: | initiation region | |||||||||
| Name: | SLC2A11_2 | |||||||||
| Description: | solute carrier family 2 member 11 | |||||||||
| SO ACC ID: | SO:0000170 | |||||||||
| Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | |||||||||
| Experiment Methods: | Single-end sequencing. | |||||||||
| Position: |
|
| RGD ID: | 13603448 | |||||||||
| Promoter ID: | EPDNEW_H27908 | |||||||||
| Type: | initiation region | |||||||||
| Name: | SLC2A11_1 | |||||||||
| Description: | solute carrier family 2 member 11 | |||||||||
| SO ACC ID: | SO:0000170 | |||||||||
| Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | |||||||||
| Experiment Methods: | Single-end sequencing. | |||||||||
| Position: |
|
| RGD ID: | 13603450 | |||||||||
| Promoter ID: | EPDNEW_H27909 | |||||||||
| Type: | initiation region | |||||||||
| Name: | SLC2A11_3 | |||||||||
| Description: | solute carrier family 2 member 11 | |||||||||
| SO ACC ID: | SO:0000170 | |||||||||
| Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | |||||||||
| Experiment Methods: | Single-end sequencing.; Paired-end sequencing. | |||||||||
| Position: |
|
| RGD ID: | 13603452 | |||||||||
| Promoter ID: | EPDNEW_H27910 | |||||||||
| Type: | initiation region | |||||||||
| Name: | SLC2A11_4 | |||||||||
| Description: | solute carrier family 2 member 11 | |||||||||
| SO ACC ID: | SO:0000170 | |||||||||
| Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | |||||||||
| Experiment Methods: | Single-end sequencing.; Paired-end sequencing. | |||||||||
| Position: |
|
Clinical Variants| Name | Type | Condition(s) | Position(s) | Clinical significance |
| GRCh37/hg19 22q11.23(chr22:23720171-25065576) | copy number gain | Cerebellar ataxia [RCV000626496] | Chr22:23720171..25065576 [GRCh37] Chr22:22q11.23 |
uncertain significance |
| GRCh38/hg38 22q11.21-12.3(chr22:18178957-31821193)x3 | copy number gain | Cholesteatoma [RCV000050768]|See cases [RCV000050768] | Chr22:18178957..31821193 [GRCh38] Chr22:18661724..32217179 [GRCh37] Chr22:17041724..30547179 [NCBI36] Chr22:22q11.21-12.3 |
pathogenic |
| GRCh38/hg38 22q11.22-11.23(chr22:22669543-24563859)x3 | copy number gain | Hemihypertrophy [RCV000050739]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050740]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050740]|See cases [RCV000050739] | Chr22:22669543..24563859 [GRCh38] Chr22:23012013..24959827 [GRCh37] Chr22:21342013..23289827 [NCBI36] Chr22:22q11.22-11.23 |
conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters |
| GRCh38/hg38 22q11.21-11.23(chr22:21454661-24197852)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053084]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053084]|See cases [RCV000053084] | Chr22:21454661..24197852 [GRCh38] Chr22:21808950..24593820 [GRCh37] Chr22:20138950..22923820 [NCBI36] Chr22:22q11.21-11.23 |
pathogenic |
| GRCh38/hg38 22q11.21-11.23(chr22:21457690-24220231)x1 | copy number loss | Nonsyndromic microcephaly [RCV000053087]|See cases [RCV000053087] | Chr22:21457690..24220231 [GRCh38] Chr22:21811979..24616199 [GRCh37] Chr22:20141979..22946199 [NCBI36] Chr22:22q11.21-11.23 |
pathogenic |
| GRCh38/hg38 22q11.23(chr22:23338443-24610403)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053174]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053174]|See cases [RCV000053174] | Chr22:23338443..24610403 [GRCh38] Chr22:23680630..25006370 [GRCh37] Chr22:22010630..23336370 [NCBI36] Chr22:22q11.23 |
uncertain significance |
| GRCh38/hg38 22q11.23(chr22:23338443-24577664)x3 | copy number gain | Specific learning disability [RCV000053175]|See cases [RCV000053175] | Chr22:23338443..24577664 [GRCh38] Chr22:23680630..24973632 [GRCh37] Chr22:22010630..23303632 [NCBI36] Chr22:22q11.23 |
uncertain significance |
| GRCh38/hg38 22q11.23(chr22:23354221-24541945)x3 | copy number gain | Macrocephaly [RCV000053176]|See cases [RCV000053176] | Chr22:23354221..24541945 [GRCh38] Chr22:23696408..24937913 [GRCh37] Chr22:22026408..23267913 [NCBI36] Chr22:22q11.23 |
uncertain significance |
| GRCh38/hg38 22q11.23(chr22:23369950-24669609)x3 | copy number gain | Global developmental delay [RCV000053177]|See cases [RCV000053177] | Chr22:23369950..24669609 [GRCh38] Chr22:23712137..25065576 [GRCh37] Chr22:22042137..23395576 [NCBI36] Chr22:22q11.23 |
uncertain significance |
| GRCh38/hg38 22q11.23(chr22:23377784-24564000)x3 | copy number gain | Adrenal insufficiency [RCV000053178]|See cases [RCV000053178] | Chr22:23377784..24564000 [GRCh38] Chr22:23719971..24959968 [GRCh37] Chr22:22049971..23289968 [NCBI36] Chr22:22q11.23 |
uncertain significance |
| GRCh38/hg38 22q11.23(chr22:23377984-24563859)x3 | copy number gain | Global developmental delay [RCV000053179]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053180]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053180]|See cases [RCV000053179] | Chr22:23377984..24563859 [GRCh38] Chr22:23720171..24959827 [GRCh37] Chr22:22050171..23289827 [NCBI36] Chr22:22q11.23 |
conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters |
| GRCh38/hg38 22q11.21-11.23(chr22:21562911-24307688)x1 | copy number loss | Global developmental delay [RCV000053090]|See cases [RCV000053090] | Chr22:21562911..24307688 [GRCh38] Chr22:21917200..24703656 [GRCh37] Chr22:20247200..23033656 [NCBI36] Chr22:22q11.21-11.23 |
pathogenic |
| GRCh38/hg38 22q11.23(chr22:23377984-24669609)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053181]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053181]|See cases [RCV000053181] | Chr22:23377984..24669609 [GRCh38] Chr22:23720171..25065576 [GRCh37] Chr22:22050171..23395576 [NCBI36] Chr22:22q11.23 |
uncertain significance |
| GRCh38/hg38 22q11.23(chr22:23414627-24563859)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053182]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053182]|See cases [RCV000053182] | Chr22:23414627..24563859 [GRCh38] Chr22:23756814..24959827 [GRCh37] Chr22:22086814..23289827 [NCBI36] Chr22:22q11.23 |
uncertain significance |
| GRCh38/hg38 22q11.1-11.23(chr22:16916608-24358936)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053104]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053104]|See cases [RCV000053104] | Chr22:16916608..24358936 [GRCh38] Chr22:17397498..24754904 [GRCh37] Chr22:15777498..23084904 [NCBI36] Chr22:22q11.1-11.23 |
pathogenic |
| GRCh38/hg38 22q11.22-11.23(chr22:22686122-24577664)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053161]|Global developmental delay [RCV000053162]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053161]|See cases [RCV000053161] | Chr22:22686122..24577664 [GRCh38] Chr22:23028586..24973632 [GRCh37] Chr22:21358586..23303632 [NCBI36] Chr22:22q11.22-11.23 |
uncertain significance |
| GRCh38/hg38 22q11.22-11.23(chr22:22703701-24669609)x3 | copy number gain | Nonsyndromic microcephaly [RCV000053163]|See cases [RCV000053163] | Chr22:22703701..24669609 [GRCh38] Chr22:23046186..25065576 [GRCh37] Chr22:21376186..23395576 [NCBI36] Chr22:22q11.22-11.23 |
uncertain significance |
| GRCh38/hg38 22q11.23(chr22:23285152-24723136)x3 | copy number gain | Macrocephaly [RCV000053164]|See cases [RCV000053164] | Chr22:23285152..24723136 [GRCh38] Chr22:23627339..25119103 [GRCh37] Chr22:21957339..23449103 [NCBI36] Chr22:22q11.23 |
uncertain significance |
| GRCh38/hg38 22q11.21-11.23(chr22:21443815-24235645)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053074]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053074]|See cases [RCV000053074] | Chr22:21443815..24235645 [GRCh38] Chr22:21798104..24631613 [GRCh37] Chr22:20128104..22961613 [NCBI36] Chr22:22q11.21-11.23 |
pathogenic |
| GRCh38/hg38 22q11.21-11.23(chr22:21454461-24247296)x1 | copy number loss | Abnormality of the heart [RCV000053077]|See cases [RCV000053077] | Chr22:21454461..24247296 [GRCh38] Chr22:21808750..24643264 [GRCh37] Chr22:20138750..22973264 [NCBI36] Chr22:22q11.21-11.23 |
pathogenic |
| GRCh38/hg38 22q11.21-11.23(chr22:21454661-24289119)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053079]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053079]|See cases [RCV000053079] | Chr22:21454661..24289119 [GRCh38] Chr22:21808950..24685087 [GRCh37] Chr22:20138950..23015087 [NCBI36] Chr22:22q11.21-11.23 |
pathogenic |
| NM_001024938.3(SLC2A11):c.1290+83A>T | single nucleotide variant | Lung cancer [RCV000101985] | Chr22:23884512 [GRCh38] Chr22:24226699 [GRCh37] Chr22:22q11.23 |
uncertain significance |
| GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3 | copy number gain | See cases [RCV000133646] | Chr22:16916608..50739836 [GRCh38] Chr22:17397498..51178264 [GRCh37] Chr22:15777498..49525130 [NCBI36] Chr22:22q11.1-13.33 |
pathogenic |
| GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3 | copy number gain | See cases [RCV000134730] | Chr22:16916743..50739785 [GRCh38] Chr22:17397633..51178213 [GRCh37] Chr22:15777633..49525079 [NCBI36] Chr22:22q11.1-13.33 |
pathogenic |
| GRCh38/hg38 22q11.23(chr22:23859833-23930947)x3 | copy number gain | See cases [RCV000135173] | Chr22:23859833..23930947 [GRCh38] Chr22:24202020..24273134 [GRCh37] Chr22:22532020..22603134 [NCBI36] Chr22:22q11.23 |
likely benign |
| GRCh38/hg38 22q11.22-11.23(chr22:22669599-24670517)x3 | copy number gain | See cases [RCV000136060] | Chr22:22669599..24670517 [GRCh38] Chr22:23012069..25066484 [GRCh37] Chr22:21342069..23396484 [NCBI36] Chr22:22q11.22-11.23 |
uncertain significance |
| GRCh38/hg38 22q11.21-11.23(chr22:20726972-24197852)x1 | copy number loss | See cases [RCV000136889] | Chr22:20726972..24197852 [GRCh38] Chr22:21081260..24593820 [GRCh37] Chr22:19411260..22923820 [NCBI36] Chr22:22q11.21-11.23 |
pathogenic |
| GRCh38/hg38 22q11.23(chr22:23787850-23954973)x3 | copy number gain | See cases [RCV000137648] | Chr22:23787850..23954973 [GRCh38] Chr22:24130037..24297160 [GRCh37] Chr22:22460037..22627160 [NCBI36] Chr22:22q11.23 |
uncertain significance |
| GRCh38/hg38 22q11.21-11.23(chr22:21454661-24247140)x1 | copy number loss | See cases [RCV000137685] | Chr22:21454661..24247140 [GRCh38] Chr22:21808950..24643108 [GRCh37] Chr22:20138950..22973108 [NCBI36] Chr22:22q11.21-11.23 |
pathogenic |
| GRCh38/hg38 22q11.23(chr22:23311976-24644628)x3 | copy number gain | See cases [RCV000137701] | Chr22:23311976..24644628 [GRCh38] Chr22:23654163..25040595 [GRCh37] Chr22:21984163..23370595 [NCBI36] Chr22:22q11.23 |
uncertain significance |
| GRCh38/hg38 22q11.22-11.23(chr22:22660239-24644628)x3 | copy number gain | See cases [RCV000137410] | Chr22:22660239..24644628 [GRCh38] Chr22:23002709..25040595 [GRCh37] Chr22:21332709..23370595 [NCBI36] Chr22:22q11.22-11.23 |
uncertain significance |
| GRCh38/hg38 22q11.23(chr22:23804407-24669609)x3 | copy number gain | See cases [RCV000137178] | Chr22:23804407..24669609 [GRCh38] Chr22:24146594..25065576 [GRCh37] Chr22:22476594..23395576 [NCBI36] Chr22:22q11.23 |
uncertain significance |
| GRCh38/hg38 22q11.23-12.3(chr22:23279231-36247369)x3 | copy number gain | See cases [RCV000138172] | Chr22:23279231..36247369 [GRCh38] Chr22:23621418..36643415 [GRCh37] Chr22:21951418..34973361 [NCBI36] Chr22:22q11.23-12.3 |
pathogenic |
| GRCh38/hg38 22q11.23(chr22:23311976-24600238)x3 | copy number gain | See cases [RCV000137995] | Chr22:23311976..24600238 [GRCh38] Chr22:23654163..24996205 [GRCh37] Chr22:21984163..23326205 [NCBI36] Chr22:22q11.23 |
uncertain significance |
| GRCh38/hg38 22q11.21-12.3(chr22:20907226-37187347)x3 | copy number gain | See cases [RCV000137926] | Chr22:20907226..37187347 [GRCh38] Chr22:21261514..37583387 [GRCh37] Chr22:19591514..35913333 [NCBI36] Chr22:22q11.21-12.3 |
pathogenic |
| GRCh38/hg38 22q11.22-11.23(chr22:22660239-24600238)x3 | copy number gain | See cases [RCV000137795] | Chr22:22660239..24600238 [GRCh38] Chr22:23002709..24996205 [GRCh37] Chr22:21332709..23326205 [NCBI36] Chr22:22q11.22-11.23 |
uncertain significance |
| GRCh38/hg38 22q11.21-11.23(chr22:21207181-24247140)x3 | copy number gain | See cases [RCV000138673] | Chr22:21207181..24247140 [GRCh38] Chr22:21561470..24643108 [GRCh37] Chr22:19891470..22973108 [NCBI36] Chr22:22q11.21-11.23 |
uncertain significance |
| GRCh38/hg38 22q11.22-11.23(chr22:22660239-24596054)x3 | copy number gain | See cases [RCV000138249] | Chr22:22660239..24596054 [GRCh38] Chr22:23002709..24992021 [GRCh37] Chr22:21332709..23322021 [NCBI36] Chr22:22q11.22-11.23 |
uncertain significance |
| GRCh38/hg38 22q11.23(chr22:23311976-24669609)x3 | copy number gain | See cases [RCV000139440] | Chr22:23311976..24669609 [GRCh38] Chr22:23654163..25065576 [GRCh37] Chr22:21984163..23395576 [NCBI36] Chr22:22q11.23 |
likely benign|uncertain significance |
| GRCh38/hg38 22q11.22-11.23(chr22:22655333-24663664)x3 | copy number gain | See cases [RCV000141936] | Chr22:22655333..24663664 [GRCh38] Chr22:22997803..25059631 [GRCh37] Chr22:21327803..23389631 [NCBI36] Chr22:22q11.22-11.23 |
uncertain significance |
| GRCh38/hg38 22q11.23(chr22:23308686-24647020)x3 | copy number gain | See cases [RCV000141802] | Chr22:23308686..24647020 [GRCh38] Chr22:23650873..25042987 [GRCh37] Chr22:21980873..23372987 [NCBI36] Chr22:22q11.23 |
uncertain significance |
| GRCh38/hg38 22q11.22-11.23(chr22:22655333-24630890)x3 | copy number gain | See cases [RCV000142221] | Chr22:22655333..24630890 [GRCh38] Chr22:22997803..25026857 [GRCh37] Chr22:21327803..23356857 [NCBI36] Chr22:22q11.22-11.23 |
uncertain significance |
| GRCh38/hg38 22q11.22-11.23(chr22:22655333-24647020)x3 | copy number gain | See cases [RCV000143750] | Chr22:22655333..24647020 [GRCh38] Chr22:22997803..25042987 [GRCh37] Chr22:21327803..23372987 [NCBI36] Chr22:22q11.22-11.23 |
uncertain significance |
| GRCh38/hg38 22q11.22-11.23(chr22:22669543-24563859)x3 | copy number gain | See cases [RCV000148079] | Chr22:22669543..24563859 [GRCh38] Chr22:23012013..24959827 [GRCh37] Chr22:21342013..23289827 [NCBI36] Chr22:22q11.22-11.23 |
uncertain significance |
| GRCh38/hg38 22q11.23(chr22:23348201-24647020)x3 | copy number gain | See cases [RCV000143627] | Chr22:23348201..24647020 [GRCh38] Chr22:23690388..25042987 [GRCh37] Chr22:22020388..23372987 [NCBI36] Chr22:22q11.23 |
uncertain significance |
| GRCh38/hg38 22q11.22-11.23(chr22:22920775-24606692)x3 | copy number gain | See cases [RCV000143543] | Chr22:22920775..24606692 [GRCh38] Chr22:23262947..25002659 [GRCh37] Chr22:21592947..23332659 [NCBI36] Chr22:22q11.22-11.23 |
uncertain significance |
| GRCh38/hg38 22q11.23(chr22:23310399-24643051)x3 | copy number gain | See cases [RCV000143562] | Chr22:23310399..24643051 [GRCh38] Chr22:23652586..25039018 [GRCh37] Chr22:21982586..23369018 [NCBI36] Chr22:22q11.23 |
likely benign|uncertain significance |
| GRCh38/hg38 22q11.23(chr22:23377984-24563859)x3 | copy number gain | See cases [RCV000148169] | Chr22:23377984..24563859 [GRCh38] Chr22:23720171..24959827 [GRCh37] Chr22:22050171..23289827 [NCBI36] Chr22:22q11.23 |
uncertain significance |
| GRCh37/hg19 22q11.23(chr22:23891773-24991691)x3 | copy number gain | See cases [RCV000203419] | Chr22:23891773..24991691 [GRCh37] Chr22:22q11.23 |
likely pathogenic |
| GRCh37/hg19 22q11.22-11.23(chr22:23258229-25046803)x3 | copy number gain | See cases [RCV000239808] | Chr22:23258229..25046803 [GRCh37] Chr22:22q11.22-11.23 |
pathogenic |
| GRCh37/hg19 22q11.21-12.1(chr22:18738296-25914592)x1 | copy number loss | Premature ovarian failure [RCV000225330] | Chr22:18738296..25914592 [GRCh37] Chr22:22q11.21-12.1 |
benign |
| GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3 | copy number gain | See cases [RCV000240091] | Chr22:16054691..51237518 [GRCh37] Chr22:22q11.1-13.33 |
pathogenic |
| GRCh37/hg19 22q11.22-11.23(chr22:22976696-25053311)x3 | copy number gain | See cases [RCV000239999] | Chr22:22976696..25053311 [GRCh37] Chr22:22q11.22-11.23 |
pathogenic |
| GRCh37/hg19 22q11.23(chr22:23950632-24276233)x4 | copy number gain | See cases [RCV000240514] | Chr22:23950632..24276233 [GRCh37] Chr22:22q11.23 |
uncertain significance |
| GRCh37/hg19 22q11.22-11.23(chr22:22988879-24276233)x3 | copy number gain | See cases [RCV000240234] | Chr22:22988879..24276233 [GRCh37] Chr22:22q11.22-11.23 |
pathogenic |
| GRCh37/hg19 22q11.23(chr22:24132414-24256480)x3 | copy number gain | See cases [RCV000240452] | Chr22:24132414..24256480 [GRCh37] Chr22:22q11.23 |
uncertain significance |
| GRCh37/hg19 22q11.1-12.1(chr22:16054691-27296513)x3 | copy number gain | See cases [RCV000240348] | Chr22:16054691..27296513 [GRCh37] Chr22:22q11.1-12.1 |
pathogenic |
| GRCh37/hg19 22q11.22-11.23(chr22:23258938-25002659)x3 | copy number gain | See cases [RCV000446585] | Chr22:23258938..25002659 [GRCh37] Chr22:22q11.22-11.23 |
pathogenic |
| GRCh37/hg19 22q11.1-13.33(chr22:16054691-51220902)x3 | copy number gain | See cases [RCV000446956] | Chr22:16054691..51220902 [GRCh37] Chr22:22q11.1-13.33 |
pathogenic |
| GRCh37/hg19 22q11.22-11.23(chr22:22997802-25002659)x3 | copy number gain | See cases [RCV000445706] | Chr22:22997802..25002659 [GRCh37] Chr22:22q11.22-11.23 |
likely pathogenic |
| GRCh37/hg19 22q11.22-11.23(chr22:23258229-25046758)x3 | copy number gain | See cases [RCV000445819] | Chr22:23258229..25046758 [GRCh37] Chr22:22q11.22-11.23 |
pathogenic |
| GRCh37/hg19 22q11.21-11.23(chr22:21804562-24659578)x3 | copy number gain | See cases [RCV000445928] | Chr22:21804562..24659578 [GRCh37] Chr22:22q11.21-11.23 |
pathogenic |
| GRCh37/hg19 22q11.23(chr22:23652517-25042987)x3 | copy number gain | See cases [RCV000448006] | Chr22:23652517..25042987 [GRCh37] Chr22:22q11.23 |
uncertain significance |
| NC_000022.10:g.(?_23667751)_(25041986_?)dup | duplication | Schizophrenia [RCV000416698] | Chr22:23667751..25041986 [GRCh37] Chr22:21997751..23371986 [NCBI36] Chr22:22q11.23 |
likely pathogenic |
| GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3 | copy number gain | See cases [RCV000448847] | Chr22:16054691..51237463 [GRCh37] Chr22:22q11.1-13.33 |
pathogenic |
| NC_000022.10:g.(?_22971580)_(25041986_?)dup | duplication | Schizophrenia [RCV000416783] | Chr22:22971580..25041986 [GRCh37] Chr22:21301580..23371986 [NCBI36] Chr22:22q11.22-11.23 |
likely pathogenic |
| GRCh37/hg19 22q11.23(chr22:23739611-24544632)x4 | copy number gain | See cases [RCV000448428] | Chr22:23739611..24544632 [GRCh37] Chr22:22q11.23 |
pathogenic |
| NC_000022.10:g.(?_23667751)_(24991609_?)dup | duplication | Schizophrenia [RCV000416915] | Chr22:23667751..24991609 [GRCh37] Chr22:21997751..23321609 [NCBI36] Chr22:22q11.23 |
likely pathogenic |
| GRCh37/hg19 22q11.23(chr22:24134807-24271732)x3 | copy number gain | See cases [RCV000510555] | Chr22:24134807..24271732 [GRCh37] Chr22:22q11.23 |
uncertain significance |
| GRCh37/hg19 22q11.23(chr22:24174144-24261143)x3 | copy number gain | See cases [RCV000510701] | Chr22:24174144..24261143 [GRCh37] Chr22:22q11.23 |
uncertain significance |
| GRCh37/hg19 22q11.21-11.23(chr22:21798907-24963935)x3 | copy number gain | See cases [RCV000510487] | Chr22:21798907..24963935 [GRCh37] Chr22:22q11.21-11.23 |
uncertain significance |
| GRCh37/hg19 22q11.23(chr22:23690387-25039018)x3 | copy number gain | See cases [RCV000511883] | Chr22:23690387..25039018 [GRCh37] Chr22:22q11.23 |
uncertain significance |
| GRCh37/hg19 22q11.22-11.23(chr22:22997802-25033630)x3 | copy number gain | See cases [RCV000511378] | Chr22:22997802..25033630 [GRCh37] Chr22:22q11.22-11.23 |
uncertain significance |
| GRCh37/hg19 22q11.23(chr22:24174144-24258392)x3 | copy number gain | See cases [RCV000511524] | Chr22:24174144..24258392 [GRCh37] Chr22:22q11.23 |
uncertain significance |
| GRCh37/hg19 22q11.23(chr22:23690387-25066472)x3 | copy number gain | See cases [RCV000511837] | Chr22:23690387..25066472 [GRCh37] Chr22:22q11.23 |
uncertain significance |
| GRCh37/hg19 22q11.23(chr22:23690387-24666092)x1 | copy number loss | See cases [RCV000511065] | Chr22:23690387..24666092 [GRCh37] Chr22:22q11.23 |
pathogenic |
| GRCh37/hg19 22q11.23-12.3(chr22:23637907-36614412)x3 | copy number gain | See cases [RCV000511098] | Chr22:23637907..36614412 [GRCh37] Chr22:22q11.23-12.3 |
pathogenic |
| GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838) | copy number gain | See cases [RCV000510873] | Chr22:16888900..51197838 [GRCh37] Chr22:22q11.1-13.33 |
pathogenic |
| GRCh37/hg19 22q11.23(chr22:23653979-25066472)x3 | copy number gain | See cases [RCV000512168] | Chr22:23653979..25066472 [GRCh37] Chr22:22q11.23 |
uncertain significance |
| GRCh37/hg19 22q11.23(chr22:23652549-25042987)x3 | copy number gain | See cases [RCV000512454] | Chr22:23652549..25042987 [GRCh37] Chr22:22q11.23 |
uncertain significance |
| GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)x3 | copy number gain | See cases [RCV000512333] | Chr22:16888900..51197838 [GRCh37] Chr22:22q11.1-13.33 |
pathogenic |
| GRCh37/hg19 22q11.22-11.23(chr22:22951048-25156289)x3 | copy number gain | not provided [RCV000684506] | Chr22:22951048..25156289 [GRCh37] Chr22:22q11.22-11.23 |
likely pathogenic |
| GRCh37/hg19 22q11.21-11.23(chr22:21465661-24653491)x1 | copy number loss | not provided [RCV000684518] | Chr22:21465661..24653491 [GRCh37] Chr22:22q11.21-11.23 |
pathogenic |
| GRCh37/hg19 22q11.21-11.23(chr22:21465661-24885806)x1 | copy number loss | not provided [RCV000684520] | Chr22:21465661..24885806 [GRCh37] Chr22:22q11.21-11.23 |
pathogenic |
| GRCh37/hg19 22q11.22-12.3(chr22:22460754-35198232)x3 | copy number gain | not provided [RCV000684530] | Chr22:22460754..35198232 [GRCh37] Chr22:22q11.22-12.3 |
pathogenic |
| GRCh37/hg19 22q11.23(chr22:23650871-25002659)x3 | copy number gain | not provided [RCV000684494] | Chr22:23650871..25002659 [GRCh37] Chr22:22q11.23 |
likely pathogenic |
| GRCh37/hg19 22q11.22-11.23(chr22:22945889-25059631)x3 | copy number gain | not provided [RCV000684504] | Chr22:22945889..25059631 [GRCh37] Chr22:22q11.22-11.23 |
likely pathogenic |
| Single allele | duplication | Schizophrenia [RCV000754256] | Chr22:22624794..24654160 [GRCh38] Chr22:22q11.22-11.23 |
likely pathogenic |
| Single allele | duplication | Schizophrenia [RCV000754258] | Chr22:23317839..24597843 [GRCh38] Chr22:22q11.23 |
likely pathogenic |
| Single allele | duplication | Schizophrenia [RCV000754259] | Chr22:23317839..24654160 [GRCh38] Chr22:22q11.23 |
likely pathogenic |
| GRCh37/hg19 22q11.1-13.33(chr22:16054667-51243435)x3 | copy number gain | not provided [RCV000741689] | Chr22:16054667..51243435 [GRCh37] Chr22:22q11.1-13.33 |
pathogenic |
| GRCh37/hg19 22q11.1-13.33(chr22:16114244-51195728)x3 | copy number gain | not provided [RCV000741691] | Chr22:16114244..51195728 [GRCh37] Chr22:22q11.1-13.33 |
pathogenic |
| GRCh37/hg19 22q11.1-13.33(chr22:16114244-51211392)x3 | copy number gain | not provided [RCV000741692] | Chr22:16114244..51211392 [GRCh37] Chr22:22q11.1-13.33 |
pathogenic |
| GRCh37/hg19 22q11.23(chr22:23653987-25158391) | copy number gain | not provided [RCV000767635] | Chr22:23653987..25158391 [GRCh37] Chr22:22q11.23 |
likely pathogenic |
| GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3 | copy number gain | not provided [RCV000846344] | Chr22:16888899..51197838 [GRCh37] Chr22:22q11.1-13.33 |
pathogenic |
| GRCh37/hg19 22q11.22-11.23(chr22:22998284-25119103)x3 | copy number gain | Global developmental delay [RCV000787284] | Chr22:22998284..25119103 [GRCh37] Chr22:22q11.22-11.23 |
likely pathogenic |
| GRCh37/hg19 22q11.23(chr22:23652517-25002659)x3 | copy number gain | 22q11.2 distal duplication syndrome [RCV000788073] | Chr22:23652517..25002659 [GRCh37] Chr22:22q11.23 |
uncertain significance |
| GRCh37/hg19 22q11.23(chr22:23650200-25066472)x3 | copy number gain | not provided [RCV000849234] | Chr22:23650200..25066472 [GRCh37] Chr22:22q11.23 |
pathogenic |
| GRCh37/hg19 22q11.23(chr22:24134356-24354513)x3 | copy number gain | not provided [RCV000848818] | Chr22:24134356..24354513 [GRCh37] Chr22:22q11.23 |
uncertain significance |
| GRCh37/hg19 22q11.23(chr22:24173393-24261143)x3 | copy number gain | not provided [RCV000845931] | Chr22:24173393..24261143 [GRCh37] Chr22:22q11.23 |
uncertain significance |
| Single allele | duplication | not provided [RCV000845076] | Chr22:24133746..24257275 [GRCh37] Chr22:22q11.23 |
not provided |
| GRCh37/hg19 22q11.23(chr22:23698818-25042987)x3 | copy number gain | not provided [RCV000849671] | Chr22:23698818..25042987 [GRCh37] Chr22:22q11.23 |
pathogenic |
| GRCh37/hg19 22q11.23(chr22:24171304-24258403)x3 | copy number gain | not provided [RCV000849745] | Chr22:24171304..24258403 [GRCh37] Chr22:22q11.23 |
uncertain significance |
| GRCh37/hg19 22q11.22-11.23(chr22:22962196-25059631)x3 | copy number gain | not provided [RCV000847639] | Chr22:22962196..25059631 [GRCh37] Chr22:22q11.22-11.23 |
pathogenic |
| GRCh37/hg19 22q11.22-11.23(chr22:22962195-25002659)x3 | copy number gain | not provided [RCV000846628] | Chr22:22962195..25002659 [GRCh37] Chr22:22q11.22-11.23 |
pathogenic |
| GRCh37/hg19 22q11.23(chr22:23650871-25066472)x3 | copy number gain | not provided [RCV000845636] | Chr22:23650871..25066472 [GRCh37] Chr22:22q11.23 |
pathogenic |
| GRCh37/hg19 22q11.22-11.23(chr22:22962196-25145601)x3 | copy number gain | not provided [RCV000845609] | Chr22:22962196..25145601 [GRCh37] Chr22:22q11.22-11.23 |
pathogenic |
Additional Information
External Database Links| Database | Acc Id | Source(s) |
| AGR Gene | HGNC:14239 | AgrOrtholog |
| COSMIC | SLC2A11 | COSMIC |
| Ensembl Genes | ENSG00000133460 | ENTREZGENE, UniProtKB/Swiss-Prot |
| ENSG00000275744 | UniProtKB/Swiss-Prot | |
| Ensembl Protein | ENSP00000255830 | UniProtKB/TrEMBL |
| ENSP00000326748 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| ENSP00000342542 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| ENSP00000381399 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| ENSP00000384987 | UniProtKB/TrEMBL | |
| ENSP00000385156 | UniProtKB/TrEMBL | |
| ENSP00000385949 | UniProtKB/TrEMBL | |
| ENSP00000398439 | UniProtKB/TrEMBL | |
| ENSP00000398746 | UniProtKB/TrEMBL | |
| ENSP00000403654 | UniProtKB/TrEMBL | |
| ENSP00000479754 | UniProtKB/TrEMBL | |
| ENSP00000480019 | UniProtKB/TrEMBL | |
| ENSP00000480839 | UniProtKB/Swiss-Prot | |
| ENSP00000482495 | UniProtKB/Swiss-Prot | |
| ENSP00000483038 | ENTREZGENE, UniProtKB/TrEMBL | |
| ENSP00000483163 | UniProtKB/Swiss-Prot | |
| ENSP00000485995 | UniProtKB/TrEMBL | |
| ENSP00000486767 | UniProtKB/TrEMBL | |
| ENSP00000486841 | UniProtKB/TrEMBL | |
| ENSP00000486863 | UniProtKB/TrEMBL | |
| ENSP00000487395 | UniProtKB/TrEMBL | |
| Ensembl Transcript | ENST00000255830 | UniProtKB/TrEMBL |
| ENST00000316185 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| ENST00000345044 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| ENST00000398356 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| ENST00000403208 | UniProtKB/TrEMBL | |
| ENST00000405340 | UniProtKB/TrEMBL | |
| ENST00000405847 | UniProtKB/TrEMBL | |
| ENST00000418102 | UniProtKB/TrEMBL | |
| ENST00000423972 | UniProtKB/TrEMBL | |
| ENST00000436643 | UniProtKB/TrEMBL | |
| ENST00000467660 | ENTREZGENE | |
| ENST00000611880 | ENTREZGENE, UniProtKB/TrEMBL | |
| ENST00000618114 | UniProtKB/TrEMBL | |
| ENST00000618502 | UniProtKB/Swiss-Prot | |
| ENST00000619254 | UniProtKB/Swiss-Prot | |
| ENST00000619667 | UniProtKB/TrEMBL | |
| ENST00000620942 | UniProtKB/Swiss-Prot | |
| ENST00000625546 | UniProtKB/TrEMBL | |
| ENST00000627257 | UniProtKB/TrEMBL | |
| ENST00000628119 | UniProtKB/TrEMBL | |
| ENST00000630108 | UniProtKB/TrEMBL | |
| ENST00000630215 | UniProtKB/TrEMBL | |
| GTEx | ENSG00000133460 | GTEx |
| ENSG00000275744 | GTEx | |
| HGNC ID | HGNC:14239 | ENTREZGENE |
| Human Proteome Map | SLC2A11 | Human Proteome Map |
| InterPro | MFS_dom | UniProtKB/Swiss-Prot |
| MFS_sugar_transport-like | UniProtKB/Swiss-Prot | |
| MFS_trans_sf | UniProtKB/Swiss-Prot | |
| Sugar/inositol_transpt | UniProtKB/Swiss-Prot | |
| Sugar_transporter_CS | UniProtKB/Swiss-Prot | |
| KEGG Report | hsa:66035 | UniProtKB/Swiss-Prot |
| NCBI Gene | 66035 | ENTREZGENE |
| OMIM | 610367 | OMIM |
| Pfam | Sugar_tr | UniProtKB/Swiss-Prot |
| PharmGKB | PA37861 | PharmGKB |
| PRINTS | SUGRTRNSPORT | UniProtKB/Swiss-Prot |
| PROSITE | MFS | UniProtKB/Swiss-Prot |
| SUGAR_TRANSPORT_2 | UniProtKB/Swiss-Prot | |
| Superfamily-SCOP | SSF103473 | UniProtKB/Swiss-Prot |
| TIGRFAMs | TIGR00879 | UniProtKB/Swiss-Prot |
| UniGene | Hs.661910 | ENTREZGENE |
| Hs.743282 | ENTREZGENE | |
| UniProt | A0A087X018 | ENTREZGENE, UniProtKB/TrEMBL |
| B5MCM1_HUMAN | UniProtKB/TrEMBL | |
| B5MCM7_HUMAN | UniProtKB/TrEMBL | |
| B7Z6F0 | ENTREZGENE, UniProtKB/TrEMBL | |
| F8WB79_HUMAN | UniProtKB/TrEMBL | |
| F8WBG9_HUMAN | UniProtKB/TrEMBL | |
| F8WBK0_HUMAN | UniProtKB/TrEMBL | |
| F8WCV3_HUMAN | UniProtKB/TrEMBL | |
| F8WFA8_HUMAN | UniProtKB/TrEMBL | |
| GTR11_HUMAN | UniProtKB/Swiss-Prot | |
| Q496K8_HUMAN | UniProtKB/TrEMBL | |
| Q496L1_HUMAN | UniProtKB/TrEMBL | |
| Q504W2_HUMAN | UniProtKB/TrEMBL | |
| Q6P4C1_HUMAN | UniProtKB/TrEMBL | |
| Q6PJ99 | ENTREZGENE, UniProtKB/TrEMBL | |
| Q9BYW1 | ENTREZGENE | |
| UniProt Secondary | E9PH55 | UniProtKB/Swiss-Prot |
| Q542Y4 | UniProtKB/Swiss-Prot | |
| Q6ICJ5 | UniProtKB/Swiss-Prot | |
| Q8WXF9 | UniProtKB/Swiss-Prot | |
| Q8WYM4 | UniProtKB/Swiss-Prot |
Nomenclature History| Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
|---|---|---|---|---|---|---|---|
| 2016-02-23 | SLC2A11 | solute carrier family 2 member 11 | solute carrier family 2 (facilitated glucose transporter), member 11 | Symbol and/or name change | 5135510 | APPROVED | |
| 2011-09-01 | SLC2A11 | solute carrier family 2 (facilitated glucose transporter), member 11 | SLC2A11 | solute carrier family 2 (facilitated glucose transporter), member 11 | Symbol and/or name change | 5135510 | APPROVED |
 |
| More on SLC2A11 | |
|
Alliance Gene |
|
NCBI Gene |
|
Ensembl Gene |
|
|
JBrowse: hg19 hg38 |
|
HGNC Report |
|
NCBI Genome Data Viewer |
| CRRD Object Information | |
| CRRD ID: | 1354509 |
| Created: | 2005-03-08 |
| Species: | Homo sapiens |
| Last Modified: | 2019-11-26 |
| Status: | ACTIVE |
