 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. | 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 - uncuratedGenomics
Comparative Map Data| RIPPLY3 (Homo sapiens - human) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ripply3 (Mus musculus - house mouse) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ripply3 (Rattus norvegicus - Norway rat) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ripply3 (Chinchilla lanigera - long-tailed chinchilla) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| RIPPLY3 (Pan paniscus - bonobo/pygmy chimpanzee) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| RIPPLY3 (Canis lupus familiaris - dog) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ripply3 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| RIPPLY3 (Sus scrofa - pig) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Position Markers| D11S2560 |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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_001317768 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| NM_001317777 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_018962 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| GenBank Nucleotide | AB037158 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| AB037159 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AB037160 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AB037161 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AP000704 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| CH471079 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
Reference Sequences
| RefSeq Acc Id: | NM_001317768 ⟹ NP_001304697 | ||||||||||||||
| RefSeq Status: | VALIDATED | ||||||||||||||
| Type: | CODING | ||||||||||||||
| Position: |
|
||||||||||||||
| Sequence: |
CAAAGCCCGAGGCCGCGGGGACCACAGAGGGACGGAGAAGCCGGGACTCCTCACATCCCACATChide sequence |
| RefSeq Acc Id: | NM_001317777 ⟹ NP_001304706 | ||||||||||||||
| RefSeq Status: | VALIDATED | ||||||||||||||
| Type: | CODING | ||||||||||||||
| Position: |
|
||||||||||||||
| Sequence: |
ACATCCCACATCCGGCAGGGGAAGCCCAGCAGCCCCGCGCCGTGGCGACCTTGGATCCAGACAChide sequence |
| RefSeq Acc Id: | NM_018962 ⟹ NP_061835 | ||||||||||||||||||||||||||||||||||
| RefSeq Status: | VALIDATED | ||||||||||||||||||||||||||||||||||
| Type: | CODING | ||||||||||||||||||||||||||||||||||
| Position: |
|
||||||||||||||||||||||||||||||||||
| Sequence: |
CTCCGACCCGGGCTTTTCCTTCGTACCCTGCGGCCCCCTCCGCACCCCTCACGGAGCTCCTCGGhide sequence |
Protein Sequences| Protein RefSeqs | NP_001304697 | (Get FASTA) | NCBI Sequence Viewer |
| NP_001304706 | (Get FASTA) | NCBI Sequence Viewer | |
| NP_061835 | (Get FASTA) | NCBI Sequence Viewer | |
| GenBank Protein | BAA96867 | (Get FASTA) | NCBI Sequence Viewer |
| BAA96868 | (Get FASTA) | NCBI Sequence Viewer | |
| BAA96869 | (Get FASTA) | NCBI Sequence Viewer | |
| BAA96870 | (Get FASTA) | NCBI Sequence Viewer | |
| EAX09729 | (Get FASTA) | NCBI Sequence Viewer | |
| EAX09730 | (Get FASTA) | NCBI Sequence Viewer | |
| P57055 | (Get FASTA) | NCBI Sequence Viewer |
Reference Sequences
| RefSeq Acc Id: | NP_061835 ⟸ NM_018962 |
| - Peptide Label: | isoform 1 |
| - UniProtKB: | P57055 (UniProtKB/Swiss-Prot) |
| - Sequence: |
MEPEAAAGARKARGRGCHCPGDAPWRPPPPRGPESPAPWRPWIQTPGDAELTRTGRPLEPRADQhide sequence |
| RefSeq Acc Id: | NP_001304697 ⟸ NM_001317768 |
| - Peptide Label: | isoform 2 |
| - UniProtKB: | P57055 (UniProtKB/Swiss-Prot) |
| - Sequence: |
MSKRQEYLRSSGEQVLASFPVQATIDFYDDESTESASEAEEPEEGPPPLHLLPQEVGGRQENGPhide sequence |
| RefSeq Acc Id: | NP_001304706 ⟸ NM_001317777 |
| - Peptide Label: | isoform 2 |
| - UniProtKB: | P57055 (UniProtKB/Swiss-Prot) |
| - Sequence: |
MSKRQEYLRSSGEQVLASFPVQATIDFYDDESTESASEAEEPEEGPPPLHLLPQEVGGRQENGPhide sequence |
Promoters| RGD ID: | 13602780 | |||||||||
| Promoter ID: | EPDNEW_H27574 | |||||||||
| Type: | initiation region | |||||||||
| Name: | RIPPLY3_1 | |||||||||
| Description: | ripply transcriptional repressor 3 | |||||||||
| 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: | 13602782 | |||||||||
| Promoter ID: | EPDNEW_H27575 | |||||||||
| Type: | initiation region | |||||||||
| Name: | RIPPLY3_2 | |||||||||
| Description: | ripply transcriptional repressor 3 | |||||||||
| SO ACC ID: | SO:0000170 | |||||||||
| Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | |||||||||
| Experiment Methods: | Single-end sequencing. | |||||||||
| Position: |
|
| RGD ID: | 6799400 | |||||||||
| Promoter ID: | HG_KWN:40820 | |||||||||
| Type: | CpG-Island | |||||||||
| SO ACC ID: | SO:0000170 | |||||||||
| Source: | MPROMDB | |||||||||
| Tissues & Cell Lines: | Lymphoblastoid | |||||||||
| Transcripts: | OTTHUMT00000194703, OTTHUMT00000194705, UC010GND.1 | |||||||||
| Position: |
|
Clinical Variants| Name | Type | Condition(s) | Position(s) | Clinical significance |
| GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050445]|Autism [RCV000050446]|Nonsyndromic microcephaly [RCV000050447]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050445]|See cases [RCV000050445] | Chr21:7749532..46670405 [GRCh38] Chr21:15499847..48090317 [GRCh37] Chr21:14421718..46914745 [NCBI36] Chr21:21p11.2-q22.3 |
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters |
| GRCh37/hg19 21q22.1-22.3(chr21:35527952-44298520)x1 | copy number loss | Intellectual functioning disability [RCV000052807]|See cases [RCV000052807] | Chr21:35527952..44298520 [GRCh37] Chr21:34449822..43171589 [NCBI36] Chr21:21q22.1-22.3 |
pathogenic |
| GRCh38/hg38 21q22.12-22.3(chr21:35027972-46670405)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052836]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052836]|See cases [RCV000052836] | Chr21:35027972..46670405 [GRCh38] Chr21:36400269..48090317 [GRCh37] Chr21:35322139..46914745 [NCBI36] Chr21:21q22.12-22.3 |
pathogenic |
| GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053042]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053042]|See cases [RCV000053042] | Chr21:7749532..46623792 [GRCh38] Chr21:14595524..48043704 [GRCh37] Chr21:13517395..46868132 [NCBI36] Chr21:21p11.2-q22.3 |
pathogenic |
| GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053043]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053043]|See cases [RCV000053043] | Chr21:7749532..46623792 [GRCh38] Chr21:14629063..48043704 [GRCh37] Chr21:13550934..46868132 [NCBI36] Chr21:21p11.2-q22.3 |
pathogenic |
| GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670546)x3 | copy number gain | Cleft upper lip [RCV000053045]|Abnormality of the heart [RCV000053046]|See cases [RCV000053045] | Chr21:7749532..46670546 [GRCh38] Chr21:15499647..48090458 [GRCh37] Chr21:14421518..46914886 [NCBI36] Chr21:21p11.2-q22.3 |
pathogenic |
| GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46661140)x3 | copy number gain | Abnormal facial shape [RCV000053065]|See cases [RCV000053065] | Chr21:7749532..46661140 [GRCh38] Chr21:15499647..48081052 [GRCh37] Chr21:14421518..46905480 [NCBI36] Chr21:21p11.2-q22.3 |
pathogenic |
| GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46661140)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053067]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053067]|See cases [RCV000053067] | Chr21:7749532..46661140 [GRCh38] Chr21:15499847..48081052 [GRCh37] Chr21:14421718..46905480 [NCBI36] Chr21:21p11.2-q22.3 |
pathogenic |
| GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053068]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053068]|See cases [RCV000053068] | Chr21:7749532..46670405 [GRCh38] Chr21:20655360..48090317 [GRCh37] Chr21:19577231..46914745 [NCBI36] Chr21:21p11.2-q22.3 |
pathogenic |
| GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053039]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053039]|See cases [RCV000053039] | Chr21:7749532..46623792 [GRCh38] Chr21:14524963..48043704 [GRCh37] Chr21:13446834..46868132 [NCBI36] Chr21:21p11.2-q22.3 |
pathogenic |
| GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053069]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053069]|See cases [RCV000053069] | Chr21:7749532..46670405 [GRCh38] Chr21:34423268..48090317 [GRCh37] Chr21:33345138..46914745 [NCBI36] Chr21:21p11.2-q22.3 |
pathogenic |
| GRCh38/hg38 21q22.12-22.2(chr21:36396699-38951223)x3 | copy number gain | Global developmental delay [RCV000053071]|See cases [RCV000053071] | Chr21:36396699..38951223 [GRCh38] Chr21:37768997..40323148 [GRCh37] Chr21:36690867..39245018 [NCBI36] Chr21:21q22.12-22.2 |
pathogenic |
| GRCh38/hg38 21q22.13(chr21:36712503-37408829)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053072]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053072]|See cases [RCV000053072] | Chr21:36712503..37408829 [GRCh38] Chr21:38084803..38781131 [GRCh37] Chr21:37006673..37703001 [NCBI36] Chr21:21q22.13 |
pathogenic |
| GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653090)x3 | copy number gain | Global developmental delay [RCV000053040]|Abnormal facial shape [RCV000053041]|See cases [RCV000053040] | Chr21:7749532..46653090 [GRCh38] Chr21:14539679..48073002 [GRCh37] Chr21:13461550..46897430 [NCBI36] Chr21:21p11.2-q22.3 |
pathogenic |
| NM_018962.2(RIPPLY3):c.*22C>T | single nucleotide variant | Malignant melanoma [RCV000072830] | Chr21:37018229 [GRCh38] Chr21:38390529 [GRCh37] Chr21:37312399 [NCBI36] Chr21:21q22.13 |
not provided |
| GRCh37/hg19 21q22.13-22.2(chr21:37839410..41427526) | copy number loss | Mental retardation, autosomal dominant 7 [RCV000190476] | Chr21:37839410..41427526 [GRCh37] Chr21:21q22.13-22.2 |
pathogenic |
| GRCh38/hg38 21q22.12-22.2(chr21:35772177-38558509)x1 | copy number loss | See cases [RCV000133619] | Chr21:35772177..38558509 [GRCh38] Chr21:37144475..39930433 [GRCh37] Chr21:36066345..38852303 [NCBI36] Chr21:21q22.12-22.2 |
pathogenic |
| GRCh38/hg38 21p11.2-q22.3(chr21:7749532-42971047)x3 | copy number gain | See cases [RCV000133676] | Chr21:7749532..42971047 [GRCh38] Chr21:15499847..44391157 [GRCh37] Chr21:14421718..43264226 [NCBI36] Chr21:21p11.2-q22.3 |
pathogenic |
| GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653084)x3 | copy number gain | See cases [RCV000134727] | Chr21:7749532..46653084 [GRCh38] Chr21:15485038..48072996 [GRCh37] Chr21:14406909..46897424 [NCBI36] Chr21:21p11.2-q22.3 |
pathogenic |
| GRCh38/hg38 21q11.2-22.3(chr21:7749532-46649831)x3 | copy number gain | See cases [RCV000134509] | Chr21:7749532..46649831 [GRCh38] Chr21:14577835..48069743 [GRCh37] Chr21:13499706..46894171 [NCBI36] Chr21:21q11.2-22.3 |
pathogenic |
| GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3 | copy number gain | See cases [RCV000134119] | Chr21:7749532..46670440 [GRCh38] Chr21:15485038..48090352 [GRCh37] Chr21:14406909..46914780 [NCBI36] Chr21:21p11.2-q22.3 |
pathogenic |
| GRCh38/hg38 21q22.11-22.3(chr21:7749532-46670346)x3 | copy number gain | See cases [RCV000135310] | Chr21:7749532..46670346 [GRCh38] Chr21:34111831..48090258 [GRCh37] Chr21:33033702..46914686 [NCBI36] Chr21:21q22.11-22.3 |
pathogenic |
| GRCh38/hg38 21q22.12-22.3(chr21:36206067-46670405)x3 | copy number gain | See cases [RCV000134972] | Chr21:36206067..46670405 [GRCh38] Chr21:37578365..48090317 [GRCh37] Chr21:36500235..46914745 [NCBI36] Chr21:21q22.12-22.3 |
pathogenic |
| GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46664250)x3 | copy number gain | See cases [RCV000134836] | Chr21:7749532..46664250 [GRCh38] Chr21:15485038..48084162 [GRCh37] Chr21:14406909..46908590 [NCBI36] Chr21:21p11.2-q22.3 |
pathogenic |
| GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3 | copy number gain | See cases [RCV000134842] | Chr21:7749532..46670440 [GRCh38] Chr21:15513244..48090352 [GRCh37] Chr21:14435115..46914780 [NCBI36] Chr21:21p11.2-q22.3 |
pathogenic |
| GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46660999)x3 | copy number gain | See cases [RCV000135448] | Chr21:7749532..46660999 [GRCh38] Chr21:15499847..48080911 [GRCh37] Chr21:14421718..46905339 [NCBI36] Chr21:21p11.2-q22.3 |
pathogenic |
| GRCh38/hg38 21q22.12-22.2(chr21:35543872-39993338)x1 | copy number loss | See cases [RCV000135412] | Chr21:35543872..39993338 [GRCh38] Chr21:36916169..41365265 [GRCh37] Chr21:35838039..40287135 [NCBI36] Chr21:21q22.12-22.2 |
pathogenic |
| GRCh38/hg38 21q22.13-22.3(chr21:36519173-46670405)x3 | copy number gain | See cases [RCV000136142] | Chr21:36519173..46670405 [GRCh38] Chr21:37891471..48090317 [GRCh37] Chr21:36813341..46914745 [NCBI36] Chr21:21q22.13-22.3 |
pathogenic |
| GRCh38/hg38 21q22.12-22.3(chr21:34789953-46636538)x1 | copy number loss | See cases [RCV000136828] | Chr21:34789953..46636538 [GRCh38] Chr21:36162250..48056450 [GRCh37] Chr21:35084120..46880878 [NCBI36] Chr21:21q22.12-22.3 |
pathogenic |
| GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 | copy number gain | See cases [RCV000137255] | Chr21:7749532..46671060 [GRCh38] Chr21:35319225..48090972 [GRCh37] Chr21:34241095..46915400 [NCBI36] Chr21:21p11.2-q22.3 |
pathogenic |
| GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 | copy number gain | See cases [RCV000137337] | Chr21:7749532..46671060 [GRCh38] Chr21:10697897..48090972 [GRCh37] Chr21:1..46915400 [NCBI36] Chr21:21p11.2-q22.3 |
pathogenic |
| GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 | copy number gain | See cases [RCV000138216] | Chr21:7749532..46671060 [GRCh38] Chr21:10944001..48090972 [GRCh37] Chr21:9965872..46915400 [NCBI36] Chr21:21p11.2-q22.3 |
pathogenic |
| GRCh38/hg38 21p11.2-q22.13(chr21:7749532-37653653)x1 | copy number loss | See cases [RCV000138095] | Chr21:7749532..37653653 [GRCh38] Chr21:15451032..39025955 [GRCh37] Chr21:14372903..37947825 [NCBI36] Chr21:21p11.2-q22.13 |
pathogenic |
| GRCh38/hg38 21q22.12-22.3(chr21:36066991-46671060)x3 | copy number gain | See cases [RCV000138164] | Chr21:36066991..46671060 [GRCh38] Chr21:37439289..48090972 [GRCh37] Chr21:36361159..46915400 [NCBI36] Chr21:21q22.12-22.3 |
pathogenic |
| GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 | copy number gain | See cases [RCV000138436] | Chr21:7749532..46671060 [GRCh38] Chr21:15451032..48090972 [GRCh37] Chr21:14372903..46915400 [NCBI36] Chr21:21p11.2-q22.3 |
pathogenic|conflicting data from submitters |
| GRCh38/hg38 21q22.13(chr21:37001929-37339004)x1 | copy number loss | See cases [RCV000138328] | Chr21:37001929..37339004 [GRCh38] Chr21:38374229..38711306 [GRCh37] Chr21:37296099..37633176 [NCBI36] Chr21:21q22.13 |
likely benign |
| GRCh38/hg38 21q11.2-22.3(chr21:7749532-46670346)x3 | copy number gain | See cases [RCV000140103] | Chr21:7749532..46670346 [GRCh38] Chr21:14577894..48090258 [GRCh37] Chr21:13499765..46914686 [NCBI36] Chr21:21q11.2-22.3 |
pathogenic |
| GRCh38/hg38 21q11.2-22.3(chr21:7749532-46698247)x3 | copy number gain | See cases [RCV000141346] | Chr21:7749532..46698247 [GRCh38] Chr21:14577835..48118159 [GRCh37] Chr21:13499706..46942587 [NCBI36] Chr21:21q11.2-22.3 |
pathogenic |
| GRCh38/hg38 21q21.3-22.3(chr21:7749532-46677460)x3 | copy number gain | See cases [RCV000141827] | Chr21:7749532..46677460 [GRCh38] Chr21:28285299..48097372 [GRCh37] Chr21:27207170..46921800 [NCBI36] Chr21:21q21.3-22.3 |
uncertain significance |
| GRCh38/hg38 21p11.2-q22.3(chr21:7817158-46670440)x1 | copy number loss | See cases [RCV000142427] | Chr21:7817158..46670440 [GRCh38] Chr21:15485038..48090352 [GRCh37] Chr21:14406909..46914780 [NCBI36] Chr21:21p11.2-q22.3 |
pathogenic |
| GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3 | copy number gain | See cases [RCV000143376] | Chr21:7749532..46677460 [GRCh38] Chr21:15006458..48097372 [GRCh37] Chr21:13928329..46921800 [NCBI36] Chr21:21q11.2-22.3 |
pathogenic |
| GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460) | copy number gain | See cases [RCV000143160] | Chr21:7749532..46677460 [GRCh38] Chr21:14386013..48097372 [GRCh37] Chr21:13307884..46921800 [NCBI36] Chr21:21q11.2-22.3 |
pathogenic |
| GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3 | copy number gain | See cases [RCV000143120] | Chr21:7749532..46677460 [GRCh38] Chr21:15006457..48097372 [GRCh37] Chr21:13928328..46921800 [NCBI36] Chr21:21q11.2-22.3 |
pathogenic |
| NC_000021.8:g.(?_38007970)_(39747620_?)del | deletion | Seizures [RCV000149563] | Chr21:38007970..39747620 [GRCh37] Chr21:21q22.13-22.2 |
pathogenic |
| GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 | copy number gain | See cases [RCV000148131] | Chr21:7749532..46670405 [GRCh38] Chr21:15499847..48090317 [GRCh37] Chr21:14421718..46914745 [NCBI36] Chr21:21p11.2-q22.3 |
pathogenic |
| GRCh37/hg19 21q11.2-22.3(chr21:15538655-48080926)x1 | copy number loss | See cases [RCV000239948] | Chr21:15538655..48080926 [GRCh37] Chr21:21q11.2-22.3 |
pathogenic |
| GRCh37/hg19 21q11.2-22.3(chr21:15410701-48090317)x3 | copy number gain | See cases [RCV000240397] | Chr21:15410701..48090317 [GRCh37] Chr21:21q11.2-22.3 |
pathogenic |
| GRCh37/hg19 21q22.13-22.2(chr21:38176362-41901945)x1 | copy number loss | See cases [RCV000449183] | Chr21:38176362..41901945 [GRCh37] Chr21:21q22.13-22.2 |
pathogenic |
| GRCh37/hg19 21q11.2-22.3(chr21:15006457-43598570)x3 | copy number gain | See cases [RCV000446716] | Chr21:15006457..43598570 [GRCh37] Chr21:21q11.2-22.3 |
pathogenic |
| GRCh37/hg19 21q21.3-22.13(chr21:29812033-39282854)x3 | copy number gain | See cases [RCV000448874] | Chr21:29812033..39282854 [GRCh37] Chr21:21q21.3-22.13 |
pathogenic |
| GRCh37/hg19 21q11.2-22.3(chr21:14771770-48080867)x3 | copy number gain | See cases [RCV000447884] | Chr21:14771770..48080867 [GRCh37] Chr21:21q11.2-22.3 |
pathogenic |
| GRCh37/hg19 21q11.2-22.3(chr21:15006457-44827632)x3 | copy number gain | See cases [RCV000448199] | Chr21:15006457..44827632 [GRCh37] Chr21:21q11.2-22.3 |
pathogenic |
| GRCh37/hg19 21q11.2-22.3(chr21:15285841-48097372)x3 | copy number gain | See cases [RCV000447729] | Chr21:15285841..48097372 [GRCh37] Chr21:21q11.2-22.3 |
pathogenic |
| GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)x3 | copy number gain | See cases [RCV000447749] | Chr21:15006457..48097372 [GRCh37] Chr21:21q11.2-22.3 |
pathogenic |
| GRCh37/hg19 21q11.2-22.3(chr21:15006458-48097372) | copy number gain | See cases [RCV000511589] | Chr21:15006458..48097372 [GRCh37] Chr21:21q11.2-22.3 |
pathogenic |
| GRCh37/hg19 21q22.13-22.3(chr21:37914123-48097372)x1 | copy number loss | See cases [RCV000510798] | Chr21:37914123..48097372 [GRCh37] Chr21:21q22.13-22.3 |
pathogenic |
| GRCh37/hg19 21q22.12-22.2(chr21:36183329-42311538)x3 | copy number gain | See cases [RCV000512585] | Chr21:36183329..42311538 [GRCh37] Chr21:21q22.12-22.2 |
likely pathogenic |
| GRCh37/hg19 21q22.11-22.2(chr21:33980213-42542987)x3 | copy number gain | not provided [RCV000684166] | Chr21:33980213..42542987 [GRCh37] Chr21:21q22.11-22.2 |
pathogenic |
| GRCh37/hg19 21p11.2-q22.3(chr21:10827533-48100155)x3 | copy number gain | not provided [RCV000741419] | Chr21:10827533..48100155 [GRCh37] Chr21:21p11.2-q22.3 |
pathogenic |
| GRCh37/hg19 21q22.13(chr21:38371327-38444890)x1 | copy number loss | not provided [RCV000741563] | Chr21:38371327..38444890 [GRCh37] Chr21:21q22.13 |
benign |
| GRCh37/hg19 21p11.2-q22.3(chr21:10699330-48117896)x3 | copy number gain | not provided [RCV000741413] | Chr21:10699330..48117896 [GRCh37] Chr21:21p11.2-q22.3 |
pathogenic |
| GRCh37/hg19 21p11.2-q22.3(chr21:10704198-48117896)x3 | copy number gain | not provided [RCV000741415] | Chr21:10704198..48117896 [GRCh37] Chr21:21p11.2-q22.3 |
pathogenic |
| GRCh37/hg19 21p11.2-q22.3(chr21:10824040-48090629)x3 | copy number gain | not provided [RCV000741418] | Chr21:10824040..48090629 [GRCh37] Chr21:21p11.2-q22.3 |
pathogenic |
| GRCh37/hg19 21q22.13(chr21:38131532-38403979)x3 | copy number gain | not provided [RCV000845897] | Chr21:38131532..38403979 [GRCh37] Chr21:21q22.13 |
uncertain significance |
| GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)x3 | copy number gain | not provided [RCV000846937] | Chr21:15006457..48097372 [GRCh37] Chr21:21q11.2-22.3 |
pathogenic |
| GRCh37/hg19 21q22.13(chr21:38385744-38450578)x1 | copy number loss | not provided [RCV000846862] | Chr21:38385744..38450578 [GRCh37] Chr21:21q22.13 |
uncertain significance |
Additional Information
External Database Links| Database | Acc Id | Source(s) |
| AGR Gene | HGNC:3047 | AgrOrtholog |
| COSMIC | RIPPLY3 | COSMIC |
| Ensembl Genes | ENSG00000183145 | ENTREZGENE, UniProtKB/Swiss-Prot |
| Ensembl Protein | ENSP00000331734 | ENTREZGENE, UniProtKB/Swiss-Prot |
| Ensembl Transcript | ENST00000329553 | ENTREZGENE, UniProtKB/Swiss-Prot |
| GTEx | ENSG00000183145 | GTEx |
| HGNC ID | HGNC:3047 | ENTREZGENE |
| Human Proteome Map | RIPPLY3 | Human Proteome Map |
| InterPro | Ripply_fam | UniProtKB/Swiss-Prot |
| KEGG Report | hsa:53820 | UniProtKB/Swiss-Prot |
| NCBI Gene | 53820 | ENTREZGENE |
| OMIM | 609892 | OMIM |
| PANTHER | PTHR16770 | UniProtKB/Swiss-Prot |
| Pfam | Ripply | UniProtKB/Swiss-Prot |
| PharmGKB | PA27499 | PharmGKB |
| UniGene | Hs.254560 | ENTREZGENE |
| UniProt | DSCR6_HUMAN | UniProtKB/Swiss-Prot, ENTREZGENE |
Nomenclature History| Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
|---|---|---|---|---|---|---|---|
| 2013-07-30 | RIPPLY3 | ripply transcriptional repressor 3 | ripply3 homolog (zebrafish) | Symbol and/or name change | 5135510 | APPROVED | |
| 2013-06-11 | RIPPLY3 | ripply3 homolog (zebrafish) | DSCR6 | Down syndrome critical region gene 6 | Symbol and/or name change | 5135510 | APPROVED |
 |
| More on RIPPLY3 | |
|
Alliance Gene |
|
NCBI Gene |
|
Ensembl Gene |
|
|
JBrowse: hg19 hg38 |
|
HGNC Report |
|
NCBI Genome Data Viewer |
| CRRD Object Information | |
| CRRD ID: | 1318761 |
| Created: | 2005-01-12 |
| Species: | Homo sapiens |
| Last Modified: | 2019-11-26 |
| Status: | ACTIVE |
