 Gene Ontology Annotations | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cellular Component
Molecular Function
 |
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) |
Cellular Component
Molecular Function
Gene-Chemical Interaction Annotations
|
|
|
Gene Ontology AnnotationsBiological Process
|
|
Cellular Component
|
|
Molecular Function
|
|
References - curated| 1. | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 2. | RGD automated import pipeline for gene-chemical interactions |
References - uncurated| PubMed | 12477932 15479636 17531812 17671431 19322201 19725879 20360068 20379614 21498570 21873635 22895175 25368258 25609649 26186194 26638075 27465258 27705803 28514442 28794006 30415952 30463901 |
Genomics
Comparative Map Data| LIN54 (Homo sapiens - human) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lin54 (Mus musculus - house mouse) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lin54 (Rattus norvegicus - Norway rat) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lin54 (Chinchilla lanigera - long-tailed chinchilla) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| LIN54 (Pan paniscus - bonobo/pygmy chimpanzee) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| LIN54 (Canis lupus familiaris - dog) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lin54 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| LIN54 (Sus scrofa - pig) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Position Markers| D11S3114 |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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_001115007 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| NM_001115008 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_001288996 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_001288997 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_194282 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NR_110253 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NR_110254 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_005262750 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_006714081 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017007728 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017007729 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017007730 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| GenBank Nucleotide | AB111889 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| AC021105 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AI208524 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK292769 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK294256 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK299787 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BC109277 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BC109278 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BX108765 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BX537919 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BX640657 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BX640966 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| CH471057 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| CK819664 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| CX871759 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| DC335927 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| DC407712 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
Reference Sequences
| RefSeq Acc Id: | NM_001115007 ⟹ NP_001108479 | |||||||||||||||||||||||||||||
| RefSeq Status: | VALIDATED | |||||||||||||||||||||||||||||
| Type: | CODING | |||||||||||||||||||||||||||||
| Position: |
|
|||||||||||||||||||||||||||||
| Sequence: |
AGCGTATTATGGGATGCGGCGGTGGAATGGGGCTGGGCGCGTGATTTTGAACAAACCCTGGTCThide sequence |
| RefSeq Acc Id: | NM_001115008 ⟹ NP_001108480 | |||||||||||||||||||||||||||||
| RefSeq Status: | VALIDATED | |||||||||||||||||||||||||||||
| Type: | CODING | |||||||||||||||||||||||||||||
| Position: |
|
|||||||||||||||||||||||||||||
| Sequence: |
AGGGGGAGGTTACTGGTGGTGGCGGCGGCGGCGGCGGCCCGGGCTCCGGCTGTCGGGGAAGCTGhide sequence |
| RefSeq Acc Id: | NM_001288996 ⟹ NP_001275925 | |||||||||||||||||||
| RefSeq Status: | VALIDATED | |||||||||||||||||||
| Type: | CODING | |||||||||||||||||||
| Position: |
|
|||||||||||||||||||
| Sequence: |
AGGGGGAGGTTACTGGTGGTGGCGGCGGCGGCGGCGGCCCGGGCTCCGGCTGTCGGGGAAGCTGhide sequence |
| RefSeq Acc Id: | NM_001288997 ⟹ NP_001275926 | |||||||||||||||||||
| RefSeq Status: | VALIDATED | |||||||||||||||||||
| Type: | CODING | |||||||||||||||||||
| Position: |
|
|||||||||||||||||||
| Sequence: |
AGGGGGAGGTTACTGGTGGTGGCGGCGGCGGCGGCGGCCCGGGCTCCGGCTGTCGGGGAAGCTGhide sequence |
| RefSeq Acc Id: | NM_194282 ⟹ NP_919258 | ||||||||||||||||||||||||||||||||||
| RefSeq Status: | VALIDATED | ||||||||||||||||||||||||||||||||||
| Type: | CODING | ||||||||||||||||||||||||||||||||||
| Position: |
|
||||||||||||||||||||||||||||||||||
| Sequence: |
AGGGGGAGGTTACTGGTGGTGGCGGCGGCGGCGGCGGCCCGGGCTCCGGCTGTCGGGGAAGCTGhide sequence |
| RefSeq Acc Id: | NR_110253 | |||||||||||||||||||
| RefSeq Status: | VALIDATED | |||||||||||||||||||
| Type: | NON-CODING | |||||||||||||||||||
| Position: |
|
|||||||||||||||||||
| Sequence: |
AGGGGGAGGTTACTGGTGGTGGCGGCGGCGGCGGCGGCCCGGGCTCCGGCTGTCGGGGAAGCTGhide sequence |
| RefSeq Acc Id: | NR_110254 | |||||||||||||||||||
| RefSeq Status: | VALIDATED | |||||||||||||||||||
| Type: | NON-CODING | |||||||||||||||||||
| Position: |
|
|||||||||||||||||||
| Sequence: |
AGGGGGAGGTTACTGGTGGTGGCGGCGGCGGCGGCGGCCCGGGCTCCGGCTGTCGGGGAAGCTGhide sequence |
| RefSeq Acc Id: | XM_005262750 ⟹ XP_005262807 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
|
|||||||||
| Sequence: |
GGGAGGGCCCAGCGTATTATGGGATGCGGCGGTGGAATGGGGCTGGGCGCGTGATTTTGAACAAhide sequence |
| RefSeq Acc Id: | XM_006714081 ⟹ XP_006714144 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
|
|||||||||
| Sequence: |
GGGGAGGTTACTGGTGGTGGCGGCGGCGGCGGCGGCCCGGGCTCCGGCTGTCGGGGAAGCTGCThide sequence |
| RefSeq Acc Id: | XM_017007728 ⟹ XP_016863217 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
|
|||||||||
| Sequence: |
GGGAGGGCCCAGCGTATTATGGGATGCGGCGGTGGAATGGGGCTGGGCGCGTGATTTTGAACAAhide sequence |
| RefSeq Acc Id: | XM_017007729 ⟹ XP_016863218 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
|
|||||||||
| Sequence: |
AAGCTGCTGAGCTGTGATGGTGATGACGAGGTGAAAATGGCGGATCTTTCGAAATACAATCCCGhide sequence |
| RefSeq Acc Id: | XM_017007730 ⟹ XP_016863219 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
|
|||||||||
| Sequence: |
AGGTTACTGGTGGTGGCGGCGGCGGCGGCGGCCCGGGCTCCGGCTGTCGGGGAAGCTGCTGAGChide sequence |
Protein Sequences| Protein RefSeqs | NP_001108479 | (Get FASTA) | NCBI Sequence Viewer |
| NP_001108480 | (Get FASTA) | NCBI Sequence Viewer | |
| NP_001275925 | (Get FASTA) | NCBI Sequence Viewer | |
| NP_001275926 | (Get FASTA) | NCBI Sequence Viewer | |
| NP_919258 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_005262807 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_006714144 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_016863217 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_016863218 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_016863219 | (Get FASTA) | NCBI Sequence Viewer | |
| GenBank Protein | AAI09278 | (Get FASTA) | NCBI Sequence Viewer |
| AAI09279 | (Get FASTA) | NCBI Sequence Viewer | |
| BAC98377 | (Get FASTA) | NCBI Sequence Viewer | |
| BAF85458 | (Get FASTA) | NCBI Sequence Viewer | |
| BAG57551 | (Get FASTA) | NCBI Sequence Viewer | |
| BAG61668 | (Get FASTA) | NCBI Sequence Viewer | |
| CAD97902 | (Get FASTA) | NCBI Sequence Viewer | |
| CAE45799 | (Get FASTA) | NCBI Sequence Viewer | |
| CAE45981 | (Get FASTA) | NCBI Sequence Viewer | |
| EAX05917 | (Get FASTA) | NCBI Sequence Viewer | |
| EAX05918 | (Get FASTA) | NCBI Sequence Viewer | |
| EAX05919 | (Get FASTA) | NCBI Sequence Viewer | |
| EAX05920 | (Get FASTA) | NCBI Sequence Viewer | |
| Q6MZP7 | (Get FASTA) | NCBI Sequence Viewer |
Reference Sequences
| RefSeq Acc Id: | NP_001108479 ⟸ NM_001115007 |
| - Peptide Label: | isoform b |
| - UniProtKB: | Q6MZP7 (UniProtKB/Swiss-Prot), Q7Z3G2 (UniProtKB/TrEMBL) |
| - Sequence: |
MEVVPAEIAKKPRTPTSGPVITKLIFAKPINSKAVTGQTTQVSPPVIAGRVLSQSTPGTPSKTIhide sequence |
| RefSeq Acc Id: | NP_919258 ⟸ NM_194282 |
| - Peptide Label: | isoform a |
| - UniProtKB: | Q6MZP7 (UniProtKB/Swiss-Prot), A0A024RDD8 (UniProtKB/TrEMBL), Q7Z3G2 (UniProtKB/TrEMBL) |
| - Sequence: |
MEVVPAEVNSLLPEEIMDTGITLVDDDSIEAVIVSSPIPMETELEEIVNINSTGDSTATPISTEhide sequence |
| RefSeq Acc Id: | NP_001108480 ⟸ NM_001115008 |
| - Peptide Label: | isoform b |
| - UniProtKB: | Q6MZP7 (UniProtKB/Swiss-Prot), Q7Z3G2 (UniProtKB/TrEMBL) |
| - Sequence: |
MEVVPAEIAKKPRTPTSGPVITKLIFAKPINSKAVTGQTTQVSPPVIAGRVLSQSTPGTPSKTIhide sequence |
| RefSeq Acc Id: | XP_005262807 ⟸ XM_005262750 |
| - Peptide Label: | isoform X1 |
| - UniProtKB: | Q6MZP7 (UniProtKB/Swiss-Prot), A0A024RDD8 (UniProtKB/TrEMBL) |
| - Sequence: |
MEVVPAEVNSLLPEEIMDTGITLVDDDSIEAVIVSSPIPMETELEEIVNINSTGDSTATPISTEhide sequence |
| RefSeq Acc Id: | NP_001275926 ⟸ NM_001288997 |
| - Peptide Label: | isoform b |
| - UniProtKB: | Q6MZP7 (UniProtKB/Swiss-Prot), Q7Z3G2 (UniProtKB/TrEMBL) |
| - Sequence: |
MEVVPAEIAKKPRTPTSGPVITKLIFAKPINSKAVTGQTTQVSPPVIAGRVLSQSTPGTPSKTIhide sequence |
| RefSeq Acc Id: | NP_001275925 ⟸ NM_001288996 |
| - Peptide Label: | isoform c |
| - UniProtKB: | Q6MZP7 (UniProtKB/Swiss-Prot), Q7Z3G2 (UniProtKB/TrEMBL) |
| - Sequence: |
MEVVPAEVNSLLPEEIMDTGITLVDDDSIEAVIVSSPIPMETELEEIVNINSTGDSTATPISTEhide sequence |
| RefSeq Acc Id: | XP_006714144 ⟸ XM_006714081 |
| - Peptide Label: | isoform X1 |
| - UniProtKB: | Q6MZP7 (UniProtKB/Swiss-Prot), A0A024RDD8 (UniProtKB/TrEMBL) |
| - Sequence: |
MEVVPAEVNSLLPEEIMDTGITLVDDDSIEAVIVSSPIPMETELEEIVNINSTGDSTATPISTEhide sequence |
| RefSeq Acc Id: | XP_016863217 ⟸ XM_017007728 |
| - Peptide Label: | isoform X2 |
| - UniProtKB: | Q6MZP7 (UniProtKB/Swiss-Prot) |
| - Sequence: |
MEVVPAEVNSLLPEEIMDTGITLVDDDSIEAVIVSSPIPMETELEEIVNINSTGDSTATPISTEhide sequence |
| RefSeq Acc Id: | XP_016863219 ⟸ XM_017007730 |
| - Peptide Label: | isoform X3 |
| - UniProtKB: | Q6MZP7 (UniProtKB/Swiss-Prot) |
| - Sequence: |
MSVPIVSAQAVKQVVPKPINPTSQIVTTSQPQQRLIMPATPLPQIQPNLTNLPPGTVLAPAPGThide sequence |
| RefSeq Acc Id: | XP_016863218 ⟸ XM_017007729 |
| - Peptide Label: | isoform X3 |
| - UniProtKB: | Q6MZP7 (UniProtKB/Swiss-Prot) |
| - Sequence: |
MSVPIVSAQAVKQVVPKPINPTSQIVTTSQPQQRLIMPATPLPQIQPNLTNLPPGTVLAPAPGThide sequence |
Promoters| RGD ID: | 6867874 | |||||||||
| Promoter ID: | EPDNEW_H7102 | |||||||||
| Type: | initiation region | |||||||||
| Name: | LIN54_2 | |||||||||
| Description: | lin-54 DREAM MuvB core complex component | |||||||||
| SO ACC ID: | SO:0000170 | |||||||||
| Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | |||||||||
| Experiment Methods: | Single-end sequencing. | |||||||||
| Position: |
|
| RGD ID: | 6867876 | |||||||||
| Promoter ID: | EPDNEW_H7103 | |||||||||
| Type: | initiation region | |||||||||
| Name: | LIN54_1 | |||||||||
| Description: | lin-54 DREAM MuvB core complex component | |||||||||
| 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: | 6802003 | |||||||||
| Promoter ID: | HG_KWN:48621 | |||||||||
| Type: | CpG-Island | |||||||||
| SO ACC ID: | SO:0000170 | |||||||||
| Source: | MPROMDB | |||||||||
| Tissues & Cell Lines: | CD4+TCell, HeLa_S3, Jurkat, K562, Lymphoblastoid, NB4 | |||||||||
| Transcripts: | ENST00000395282, NM_001115008, OTTHUMT00000252626, UC003HNY.2, UC010IJT.1, UC010IJU.1 | |||||||||
| Position: |
|
| RGD ID: | 6802427 | |||||||||
| Promoter ID: | HG_KWN:48622 | |||||||||
| 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: | NM_001115007 | |||||||||
| Position: |
|
Clinical Variants| Name | Type | Condition(s) | Position(s) | Clinical significance |
| GRCh38/hg38 4q21.1-21.23(chr4:75453111-84094295)x1 | copy number loss | Abnormality of mitochondrial metabolism [RCV000050786]|See cases [RCV000050786] | Chr4:75453111..84094295 [GRCh38] Chr4:76378321..85015448 [GRCh37] Chr4:76597345..85234472 [NCBI36] Chr4:4q21.1-21.23 |
pathogenic |
| GRCh38/hg38 4q12-22.3(chr4:51831622-97505618)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051772]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051772]|See cases [RCV000051772] | Chr4:51831622..97505618 [GRCh38] Chr4:52697788..98426769 [GRCh37] Chr4:52392545..98645792 [NCBI36] Chr4:4q12-22.3 |
pathogenic |
| GRCh38/hg38 4q13.2-21.23(chr4:67869564-85517308)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053294]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053294]|See cases [RCV000053294] | Chr4:67869564..85517308 [GRCh38] Chr4:68735282..86438461 [GRCh37] Chr4:68417877..86657485 [NCBI36] Chr4:4q13.2-21.23 |
pathogenic |
| GRCh38/hg38 4q13.3-22.1(chr4:74031395-90421127)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053296]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053296]|See cases [RCV000053296] | Chr4:74031395..90421127 [GRCh38] Chr4:74897112..91342278 [GRCh37] Chr4:75115976..91561301 [NCBI36] Chr4:4q13.3-22.1 |
pathogenic |
| GRCh38/hg38 4q21.21-22.1(chr4:79575748-92412449)x1 | copy number loss | Encephalopathy [RCV000053297]|See cases [RCV000053297] | Chr4:79575748..92412449 [GRCh38] Chr4:80496902..93333600 [GRCh37] Chr4:80715926..93552623 [NCBI36] Chr4:4q21.21-22.1 |
pathogenic |
| GRCh38/hg38 4q21.21-21.23(chr4:81061483-83332595)x1 | copy number loss | Obesity [RCV000053298]|See cases [RCV000053298] | Chr4:81061483..83332595 [GRCh38] Chr4:81982637..84253748 [GRCh37] Chr4:82201661..84472772 [NCBI36] Chr4:4q21.21-21.23 |
pathogenic |
| GRCh38/hg38 4q21.22-21.23(chr4:81733333-83448842)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053299]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053299]|See cases [RCV000053299] | Chr4:81733333..83448842 [GRCh38] Chr4:82654487..84369995 [GRCh37] Chr4:82873511..84589019 [NCBI36] Chr4:4q21.22-21.23 |
pathogenic |
| GRCh38/hg38 4q21.22-21.23(chr4:81802008-83437114)x1 | copy number loss | Global developmental delay [RCV000053300]|See cases [RCV000053300] | Chr4:81802008..83437114 [GRCh38] Chr4:82723161..84358267 [GRCh37] Chr4:82942185..84577291 [NCBI36] Chr4:4q21.22-21.23 |
pathogenic |
| GRCh38/hg38 4q21.22-21.3(chr4:82248692-86778340)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053319]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053319]|See cases [RCV000053319] | Chr4:82248692..86778340 [GRCh38] Chr4:83169845..87699493 [GRCh37] Chr4:83388869..87918517 [NCBI36] Chr4:4q21.22-21.3 |
pathogenic |
| NM_001115007.2(LIN54):c.288+11179A>G | single nucleotide variant | Lung cancer [RCV000095042] | Chr4:82959148 [GRCh38] Chr4:83880301 [GRCh37] Chr4:4q21.22 |
uncertain significance |
| GRCh38/hg38 4q21.21-22.3(chr4:80879777-94809447)x1 | copy number loss | See cases [RCV000134977] | Chr4:80879777..94809447 [GRCh38] Chr4:81800931..95730598 [GRCh37] Chr4:82019955..95949621 [NCBI36] Chr4:4q21.21-22.3 |
pathogenic |
| GRCh38/hg38 4q21.21-21.22(chr4:79742612-83153725)x1 | copy number loss | See cases [RCV000135797] | Chr4:79742612..83153725 [GRCh38] Chr4:80663766..84074878 [GRCh37] Chr4:80882790..84293902 [NCBI36] Chr4:4q21.21-21.22 |
uncertain significance |
| GRCh38/hg38 4q21.21-21.23(chr4:79786514-85832807)x1 | copy number loss | See cases [RCV000136865] | Chr4:79786514..85832807 [GRCh38] Chr4:80707668..86753960 [GRCh37] Chr4:80926692..86972984 [NCBI36] Chr4:4q21.21-21.23 |
pathogenic |
| GRCh38/hg38 4q21.21-24(chr4:80427023-100855441)x1 | copy number loss | See cases [RCV000137269] | Chr4:80427023..100855441 [GRCh38] Chr4:81348177..101776598 [GRCh37] Chr4:81567201..101995621 [NCBI36] Chr4:4q21.21-24 |
pathogenic |
| GRCh38/hg38 4q21.21-21.23(chr4:80908016-84329610)x1 | copy number loss | See cases [RCV000137863] | Chr4:80908016..84329610 [GRCh38] Chr4:81829170..85250763 [GRCh37] Chr4:82048194..85469787 [NCBI36] Chr4:4q21.21-21.23 |
likely pathogenic |
| GRCh38/hg38 4q13.3-21.3(chr4:72262258-86002147)x3 | copy number gain | See cases [RCV000138312] | Chr4:72262258..86002147 [GRCh38] Chr4:73127975..86923300 [GRCh37] Chr4:73346839..87142324 [NCBI36] Chr4:4q13.3-21.3 |
pathogenic |
| GRCh38/hg38 4q21.21-21.3(chr4:80043949-86948317)x1 | copy number loss | See cases [RCV000140416] | Chr4:80043949..86948317 [GRCh38] Chr4:80965103..87869469 [GRCh37] Chr4:81184127..88088493 [NCBI36] Chr4:4q21.21-21.3 |
pathogenic |
| GRCh38/hg38 4q21.22-21.23(chr4:81675848-83970410)x1 | copy number loss | See cases [RCV000143321] | Chr4:81675848..83970410 [GRCh38] Chr4:82597002..84891563 [GRCh37] Chr4:82816026..85110587 [NCBI36] Chr4:4q21.22-21.23 |
likely pathogenic |
| GRCh38/hg38 4q13.2-22.3(chr4:68686088-95294456)x3 | copy number gain | See cases [RCV000143458] | Chr4:68686088..95294456 [GRCh38] Chr4:69551806..96215607 [GRCh37] Chr4:69234401..96434630 [NCBI36] Chr4:4q13.2-22.3 |
pathogenic |
| GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3 | copy number gain | See cases [RCV000446653] | Chr4:12440..190904441 [GRCh37] Chr4:4p16.3-q35.2 |
pathogenic |
| GRCh37/hg19 4q21.21-22.1(chr4:82283358-90341831)x1 | copy number loss | See cases [RCV000447691] | Chr4:82283358..90341831 [GRCh37] Chr4:4q21.21-22.1 |
pathogenic |
| GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473) | copy number gain | See cases [RCV000510453] | Chr4:68346..190957473 [GRCh37] Chr4:4p16.3-q35.2 |
pathogenic |
| GRCh37/hg19 4q21.21-21.23(chr4:82359656-84155605)x1 | copy number loss | See cases [RCV000511583] | Chr4:82359656..84155605 [GRCh37] Chr4:4q21.21-21.23 |
likely pathogenic |
| GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3 | copy number gain | See cases [RCV000512241] | Chr4:68346..190957473 [GRCh37] Chr4:4p16.3-q35.2 |
pathogenic |
| t(4;14)(q11;p11)dn | translocation | not specified [RCV000714256] | Chr4:83869861..83875119 [GRCh37] Chr14:66774641..66778412 [GRCh37] Chr14:14q23.3 Chr4:4q21.22 |
uncertain significance |
| GRCh37/hg19 4q21.21-22.3(chr4:81314915-96636651)x1 | copy number loss | not provided [RCV000682426] | Chr4:81314915..96636651 [GRCh37] Chr4:4q21.21-22.3 |
pathogenic |
| GRCh37/hg19 4p16.3-q35.2(chr4:49450-190915650)x3 | copy number gain | not provided [RCV000743155] | Chr4:49450..190915650 [GRCh37] Chr4:4p16.3-q35.2 |
pathogenic |
| GRCh37/hg19 4p16.3-q35.2(chr4:49450-190963766)x3 | copy number gain | not provided [RCV000743156] | Chr4:49450..190963766 [GRCh37] Chr4:4p16.3-q35.2 |
pathogenic |
| GRCh37/hg19 4p16.3-q35.2(chr4:11525-191028879)x3 | copy number gain | not provided [RCV000743147] | Chr4:11525..191028879 [GRCh37] Chr4:4p16.3-q35.2 |
pathogenic |
| GRCh37/hg19 4q21.21-22.1(chr4:82043901-88334228) | copy number loss | not provided [RCV000767792] | Chr4:82043901..88334228 [GRCh37] Chr4:4q21.21-22.1 |
pathogenic |
| GRCh37/hg19 4q21.21-22.1(chr4:80482400-92572499)x1 | copy number loss | See cases [RCV000790579] | Chr4:80482400..92572499 [GRCh37] Chr4:4q21.21-22.1 |
pathogenic |
| GRCh37/hg19 4q21.1-21.23(chr4:78769297-84968832)x1 | copy number loss | not provided [RCV000846933] | Chr4:78769297..84968832 [GRCh37] Chr4:4q21.1-21.23 |
pathogenic |
| GRCh37/hg19 4q21.21-21.22(chr4:80199183-84074906)x1 | copy number loss | not provided [RCV000848187] | Chr4:80199183..84074906 [GRCh37] Chr4:4q21.21-21.22 |
pathogenic |
Additional Information
External Database Links| Database | Acc Id | Source(s) |
| AGR Gene | HGNC:25397 | AgrOrtholog |
| COSMIC | LIN54 | COSMIC |
| Ensembl Genes | ENSG00000189308 | ENTREZGENE, UniProtKB/Swiss-Prot |
| Ensembl Protein | ENSP00000341947 | ENTREZGENE, UniProtKB/Swiss-Prot |
| ENSP00000398265 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| ENSP00000407139 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| ENSP00000421045 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| ENSP00000421651 | UniProtKB/TrEMBL | |
| ENSP00000423475 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| ENSP00000425844 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| ENSP00000427413 | UniProtKB/Swiss-Prot | |
| Ensembl Transcript | ENST00000340417 | ENTREZGENE, UniProtKB/Swiss-Prot |
| ENST00000442461 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| ENST00000446851 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| ENST00000505397 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| ENST00000506560 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| ENST00000508171 | UniProtKB/Swiss-Prot | |
| ENST00000510557 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| ENST00000510877 | ENTREZGENE, UniProtKB/TrEMBL | |
| GTEx | ENSG00000189308 | GTEx |
| HGNC ID | HGNC:25397 | ENTREZGENE |
| Human Proteome Map | LIN54 | Human Proteome Map |
| InterPro | CRC | UniProtKB/Swiss-Prot |
| Lin-54_fam | UniProtKB/Swiss-Prot | |
| Tesmin/TSO1-like_CXC | UniProtKB/Swiss-Prot | |
| KEGG Report | hsa:132660 | UniProtKB/Swiss-Prot |
| NCBI Gene | 132660 | ENTREZGENE |
| OMIM | 613367 | OMIM |
| PANTHER | PTHR12446 | UniProtKB/Swiss-Prot |
| Pfam | TCR | UniProtKB/Swiss-Prot |
| PharmGKB | PA162394056 | PharmGKB |
| PROSITE | CRC | UniProtKB/Swiss-Prot |
| SMART | CXC | UniProtKB/Swiss-Prot |
| UniGene | Hs.96952 | ENTREZGENE |
| UniProt | A0A024RDD8 | ENTREZGENE, UniProtKB/TrEMBL |
| D6REW4_HUMAN | UniProtKB/TrEMBL | |
| LIN54_HUMAN | UniProtKB/Swiss-Prot, ENTREZGENE | |
| Q7Z3G2 | ENTREZGENE, UniProtKB/TrEMBL | |
| UniProt Secondary | Q32M68 | UniProtKB/Swiss-Prot |
| Q32M69 | UniProtKB/Swiss-Prot | |
| Q6N071 | UniProtKB/Swiss-Prot | |
| Q76B60 | UniProtKB/Swiss-Prot |
Nomenclature History| Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
|---|---|---|---|---|---|---|---|
| 2014-07-23 | LIN54 | lin-54 DREAM MuvB core complex component | lin-54 homolog (C. elegans) | Symbol and/or name change | 5135510 | APPROVED |
 |
| More on LIN54 | |
|
Alliance Gene |
|
NCBI Gene |
|
Ensembl Gene |
|
|
JBrowse: hg19 hg38 |
|
HGNC Report |
|
NCBI Genome Data Viewer |
| CRRD Object Information | |
| CRRD ID: | 1606970 |
| Created: | 2007-04-29 |
| Species: | Homo sapiens |
| Last Modified: | 2019-11-26 |
| Status: | ACTIVE |
