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Analyze GeneStrainQTL List |
 Gene Annotator (Functional Annotation) unavailable |
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 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 |
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InterViewer (Protein-Protein Interactions) |
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 Gene Annotator (Annotation Comparison) unavailable |
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Gene Annotator (Annotation Comparison) |
OLGA (Gene List Generator) |
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 MOET (Multi-Ontology Enrichement) unavailable |
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MOET (Multi-Ontology Enrichement) |
GOLF (Gene-Ortholog Location Finder) |
Imported Annotations - CTD | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| intellectual disability | EXP | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:21937992 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Gene-Chemical Interaction AnnotationsGene Ontology AnnotationsMolecular Pathway AnnotationsDisease Annotations
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Gene-Chemical Interaction Annotations
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Gene Ontology Annotations
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Molecular Pathway AnnotationsReferences - curated| 1. | GOA_HUMAN data from the GO Consortium |
| 2. | Pipeline to import KEGG annotations from KEGG into RGD |
| 3. | RGD automated import pipeline for gene-chemical interactions |
References - uncurated| PubMed | 7809086 7972015 8094051 8631302 9038168 9150145 9154803 9155018 9297626 9302994 9365783 9400994 9516482 9564038 10085114 10498616 10545207 10653898 10718198 10783161 10922060 11455956 11520933 11786539 11788587 11840339 11889038 12105416 12464615 12477932 14702039 14749388 15031288 15208305 15856025 16007223 16368877 17709381 17992125 18417737 18948269 19801192 20448034 20936779 21525013 21988832 22705156 22738401 22797597 24441586 25241761 27609421 28405688 29117863 |
Comparative Map Data| RALGDS (Homo sapiens - human) |
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| Ralgds (Mus musculus - house mouse) |
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| Ralgds (Rattus norvegicus - Norway rat) |
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| Ralgds (Chinchilla lanigera - long-tailed chinchilla) |
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| RALGDS (Pan paniscus - bonobo/pygmy chimpanzee) |
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| RALGDS (Canis lupus familiaris - dog) |
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| Ralgds (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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| RALGDS (Sus scrofa - pig) |
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Position Markers| RH11981 |
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| SHGC-112288 |
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| D9S2134 |
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| MARC_3723-3724:991937466:5 |
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miRNA Target Status
| 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. |
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Nucleotide Sequences| RefSeq Transcripts | NM_001042368 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| NM_001271774 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_001271775 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_001271776 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_006266 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| GenBank Nucleotide | AB037729 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| AF027169 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AF295773 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AH009790 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK000242 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK024575 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK056462 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK074114 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK090450 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK127524 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK301470 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AL162417 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BC021581 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BC033198 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BC040737 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BC059362 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BM805052 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BY797688 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| CH471090 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| DB480866 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| DC339956 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| DR003030 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| HY002335 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| JC006874 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| U14417 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| RefSeq Acc Id: | NM_001042368 ⟹ NP_001035827 | ||||||||||||||||||||||||
| RefSeq Status: | VALIDATED | ||||||||||||||||||||||||
| Type: | CODING | ||||||||||||||||||||||||
| Position: |
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| Sequence: |
GGAACCGAGCGGCGAGGCCCGAGCGGCCGGAGCGCGGCGCGGCGCAGACAATGGGAGCGGCGCThide sequence |
| RefSeq Acc Id: | NM_001271774 ⟹ NP_001258703 | ||||||||||||||||||||||||
| RefSeq Status: | VALIDATED | ||||||||||||||||||||||||
| Type: | CODING | ||||||||||||||||||||||||
| Position: |
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| Sequence: |
GCTCAGAGGAGCAGGGCTGGGAGCGAGGTGCTGCTGGGGCAGTGTCTGGGCGGGAAGCCGGGCChide sequence |
| RefSeq Acc Id: | NM_001271775 ⟹ NP_001258704 | ||||||||||||||||||||||||
| RefSeq Status: | VALIDATED | ||||||||||||||||||||||||
| Type: | CODING | ||||||||||||||||||||||||
| Position: |
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| Sequence: |
ACTCCACTAGGGCACGCAGGCGACGAGCACACTGGCAGAGGGCCTCCCGCAGGGCCCACTCCCChide sequence |
| RefSeq Acc Id: | NM_001271776 ⟹ NP_001258705 | ||||||||||||||||||||||||
| RefSeq Status: | VALIDATED | ||||||||||||||||||||||||
| Type: | CODING | ||||||||||||||||||||||||
| Position: |
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| Sequence: |
GCGGGCTCACAGCGGTGGCAAAGCCCAGCCGCGCGGGCCGCGCCGCCGCCCCCGCCGCGCGCCGhide sequence |
| RefSeq Acc Id: | NM_006266 ⟹ NP_006257 | |||||||||||||||||||||||||||||
| RefSeq Status: | VALIDATED | |||||||||||||||||||||||||||||
| Type: | CODING | |||||||||||||||||||||||||||||
| Position: |
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| Sequence: |
GCGGGCTCACAGCGGTGGCAAAGCCCAGCCGCGCGGGCCGCGCCGCCGCCCCCGCCGCGCGCCGhide sequence |
Protein Sequences| Protein RefSeqs | NP_001035827 | (Get FASTA) | NCBI Sequence Viewer |
| NP_001258703 | (Get FASTA) | NCBI Sequence Viewer | |
| NP_001258704 | (Get FASTA) | NCBI Sequence Viewer | |
| NP_001258705 | (Get FASTA) | NCBI Sequence Viewer | |
| NP_006257 | (Get FASTA) | NCBI Sequence Viewer | |
| GenBank Protein | AAA52360 | (Get FASTA) | NCBI Sequence Viewer |
| AAG02122 | (Get FASTA) | NCBI Sequence Viewer | |
| AAG10221 | (Get FASTA) | NCBI Sequence Viewer | |
| AAG10222 | (Get FASTA) | NCBI Sequence Viewer | |
| AAG10223 | (Get FASTA) | NCBI Sequence Viewer | |
| AAG10224 | (Get FASTA) | NCBI Sequence Viewer | |
| AAG10225 | (Get FASTA) | NCBI Sequence Viewer | |
| AAH21581 | (Get FASTA) | NCBI Sequence Viewer | |
| AAH33198 | (Get FASTA) | NCBI Sequence Viewer | |
| AAH59362 | (Get FASTA) | NCBI Sequence Viewer | |
| AAQ13414 | (Get FASTA) | NCBI Sequence Viewer | |
| BAA92546 | (Get FASTA) | NCBI Sequence Viewer | |
| BAB84940 | (Get FASTA) | NCBI Sequence Viewer | |
| BAC03431 | (Get FASTA) | NCBI Sequence Viewer | |
| BAC87018 | (Get FASTA) | NCBI Sequence Viewer | |
| BAG51718 | (Get FASTA) | NCBI Sequence Viewer | |
| BAH13489 | (Get FASTA) | NCBI Sequence Viewer | |
| CDL93487 | (Get FASTA) | NCBI Sequence Viewer | |
| EAW88037 | (Get FASTA) | NCBI Sequence Viewer | |
| EAW88038 | (Get FASTA) | NCBI Sequence Viewer | |
| EAW88039 | (Get FASTA) | NCBI Sequence Viewer | |
| EAW88040 | (Get FASTA) | NCBI Sequence Viewer | |
| EAW88041 | (Get FASTA) | NCBI Sequence Viewer | |
| EAW88042 | (Get FASTA) | NCBI Sequence Viewer | |
| Q12967 | (Get FASTA) | NCBI Sequence Viewer |
| RefSeq Acc Id: | NP_001035827 ⟸ NM_001042368 |
| - Peptide Label: | isoform 2 |
| - UniProtKB: | Q12967 (UniProtKB/Swiss-Prot), Q8N4Y1 (UniProtKB/TrEMBL) |
| - Sequence: |
MMVDCQSSTQEIGEELINGVIYSISLRKVQLHHGGNKGQRWLGYENESALNLYETCKVRTVKAGhide sequence |
| RefSeq Acc Id: | NP_006257 ⟸ NM_006266 |
| - Peptide Label: | isoform 1 |
| - UniProtKB: | Q12967 (UniProtKB/Swiss-Prot), Q8N4Y1 (UniProtKB/TrEMBL) |
| - Sequence: |
MVQRMWAEAAGPAGGAEPLFPGSRRSRSVWDAVRLEVGVPDSCPVVLHSFTQLDPDLPRPESSThide sequence |
| RefSeq Acc Id: | NP_001258703 ⟸ NM_001271774 |
| - Peptide Label: | isoform 3 |
| - UniProtKB: | Q12967 (UniProtKB/Swiss-Prot), Q8N4Y1 (UniProtKB/TrEMBL) |
| - Sequence: |
MCLWGHSTAPAHTLSSPPLLFCSLPCALHLQPGTGHPPGQVPRKSSTQEIGEELINGVIYSISLhide sequence |
| RefSeq Acc Id: | NP_001258704 ⟸ NM_001271775 |
| - Peptide Label: | isoform 4 |
| - UniProtKB: | Q12967 (UniProtKB/Swiss-Prot), Q8N4Y1 (UniProtKB/TrEMBL) |
| - Sequence: |
MAREAGQVCARPAVPRGRKGSVFFACVSVVTARRRAVARRAALQSPTPWLAPLPAPATTESSTQhide sequence |
| RefSeq Acc Id: | NP_001258705 ⟸ NM_001271776 |
| - Peptide Label: | isoform 5 |
| - UniProtKB: | Q12967 (UniProtKB/Swiss-Prot), Q8N4Y1 (UniProtKB/TrEMBL) |
| - Sequence: |
MVQRMWAEAAGPAGGAEPLFPGSRRSRSVWDAVRLEVGVPDSCPVVLHSFTQLDPDLPRPESSThide sequence |
Promoters| RGD ID: | 7216491 | |||||||||
| Promoter ID: | EPDNEW_H13992 | |||||||||
| Type: | initiation region | |||||||||
| Name: | RALGDS_10 | |||||||||
| Description: | ral guanine nucleotide dissociation stimulator | |||||||||
| SO ACC ID: | SO:0000170 | |||||||||
| Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | |||||||||
| Experiment Methods: | Single-end sequencing.; Paired-end sequencing. | |||||||||
| Position: |
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| RGD ID: | 7216493 | |||||||||
| Promoter ID: | EPDNEW_H13993 | |||||||||
| Type: | initiation region | |||||||||
| Name: | RALGDS_5 | |||||||||
| Description: | ral guanine nucleotide dissociation stimulator | |||||||||
| SO ACC ID: | SO:0000170 | |||||||||
| Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | |||||||||
| Experiment Methods: | Single-end sequencing.; Paired-end sequencing. | |||||||||
| Position: |
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| RGD ID: | 7216495 | |||||||||
| Promoter ID: | EPDNEW_H13994 | |||||||||
| Type: | initiation region | |||||||||
| Name: | RALGDS_2 | |||||||||
| Description: | ral guanine nucleotide dissociation stimulator | |||||||||
| SO ACC ID: | SO:0000170 | |||||||||
| Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | |||||||||
| Experiment Methods: | Single-end sequencing.; Paired-end sequencing. | |||||||||
| Position: |
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| RGD ID: | 7216505 | |||||||||
| Promoter ID: | EPDNEW_H13995 | |||||||||
| Type: | initiation region | |||||||||
| Name: | RALGDS_11 | |||||||||
| Description: | ral guanine nucleotide dissociation stimulator | |||||||||
| SO ACC ID: | SO:0000170 | |||||||||
| Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | |||||||||
| Experiment Methods: | Single-end sequencing.; Paired-end sequencing. | |||||||||
| Position: |
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| RGD ID: | 7216499 | |||||||||
| Promoter ID: | EPDNEW_H13996 | |||||||||
| Type: | initiation region | |||||||||
| Name: | RALGDS_1 | |||||||||
| Description: | ral guanine nucleotide dissociation stimulator | |||||||||
| SO ACC ID: | SO:0000170 | |||||||||
| Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | |||||||||
| Experiment Methods: | Single-end sequencing. | |||||||||
| Position: |
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| RGD ID: | 7216501 | |||||||||
| Promoter ID: | EPDNEW_H13997 | |||||||||
| Type: | multiple initiation site | |||||||||
| Name: | RALGDS_9 | |||||||||
| Description: | ral guanine nucleotide dissociation stimulator | |||||||||
| SO ACC ID: | SO:0000170 | |||||||||
| Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | |||||||||
| Experiment Methods: | Single-end sequencing.; Paired-end sequencing. | |||||||||
| Position: |
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| RGD ID: | 7216503 | |||||||||
| Promoter ID: | EPDNEW_H13998 | |||||||||
| Type: | multiple initiation site | |||||||||
| Name: | RALGDS_12 | |||||||||
| Description: | ral guanine nucleotide dissociation stimulator | |||||||||
| SO ACC ID: | SO:0000170 | |||||||||
| Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | |||||||||
| Experiment Methods: | Single-end sequencing.; Paired-end sequencing. | |||||||||
| Position: |
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| RGD ID: | 7216507 | |||||||||
| Promoter ID: | EPDNEW_H13999 | |||||||||
| Type: | initiation region | |||||||||
| Name: | RALGDS_3 | |||||||||
| Description: | ral guanine nucleotide dissociation stimulator | |||||||||
| SO ACC ID: | SO:0000170 | |||||||||
| Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | |||||||||
| Experiment Methods: | Single-end sequencing.; Paired-end sequencing. | |||||||||
| Position: |
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| RGD ID: | 7216509 | |||||||||
| Promoter ID: | EPDNEW_H14000 | |||||||||
| Type: | initiation region | |||||||||
| Name: | RALGDS_8 | |||||||||
| Description: | ral guanine nucleotide dissociation stimulator | |||||||||
| SO ACC ID: | SO:0000170 | |||||||||
| Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | |||||||||
| Experiment Methods: | Single-end sequencing.; Paired-end sequencing. | |||||||||
| Position: |
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| RGD ID: | 7216511 | |||||||||
| Promoter ID: | EPDNEW_H14001 | |||||||||
| Type: | initiation region | |||||||||
| Name: | RALGDS_7 | |||||||||
| Description: | ral guanine nucleotide dissociation stimulator | |||||||||
| SO ACC ID: | SO:0000170 | |||||||||
| Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | |||||||||
| Experiment Methods: | Single-end sequencing.; Paired-end sequencing. | |||||||||
| Position: |
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| RGD ID: | 7216513 | |||||||||
| Promoter ID: | EPDNEW_H14002 | |||||||||
| Type: | initiation region | |||||||||
| Name: | RALGDS_4 | |||||||||
| Description: | ral guanine nucleotide dissociation stimulator | |||||||||
| SO ACC ID: | SO:0000170 | |||||||||
| Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | |||||||||
| Experiment Methods: | Single-end sequencing. | |||||||||
| Position: |
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| RGD ID: | 7216515 | |||||||||
| Promoter ID: | EPDNEW_H14003 | |||||||||
| Type: | initiation region | |||||||||
| Name: | RALGDS_6 | |||||||||
| Description: | ral guanine nucleotide dissociation stimulator | |||||||||
| SO ACC ID: | SO:0000170 | |||||||||
| Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | |||||||||
| Experiment Methods: | Single-end sequencing. | |||||||||
| Position: |
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| RGD ID: | 6808021 | |||||||||
| Promoter ID: | HG_KWN:65423 | |||||||||
| Type: | CpG-Island | |||||||||
| SO ACC ID: | SO:0000170 | |||||||||
| Source: | MPROMDB | |||||||||
| Tissues & Cell Lines: | CD4+TCell, HeLa_S3, K562, Lymphoblastoid, NB4 | |||||||||
| Transcripts: | OTTHUMT00000054847 | |||||||||
| Position: |
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| RGD ID: | 6808019 | |||||||||
| Promoter ID: | HG_KWN:65424 | |||||||||
| Type: | CpG-Island | |||||||||
| SO ACC ID: | SO:0000170 | |||||||||
| Source: | MPROMDB | |||||||||
| Tissues & Cell Lines: | HeLa_S3, Lymphoblastoid | |||||||||
| Transcripts: | OTTHUMT00000054845, UC004CCN.1 | |||||||||
| Position: |
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| RGD ID: | 6808022 | |||||||||
| Promoter ID: | HG_KWN:65426 | |||||||||
| Type: | Non-CpG | |||||||||
| SO ACC ID: | SO:0000170 | |||||||||
| Source: | MPROMDB | |||||||||
| Tissues & Cell Lines: | HeLa_S3, K562, Lymphoblastoid | |||||||||
| Transcripts: | OTTHUMT00000054846, OTTHUMT00000054848 | |||||||||
| Position: |
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| RGD ID: | 6813690 | |||||||||
| Promoter ID: | HG_ACW:82808 | |||||||||
| Type: | CpG-Island | |||||||||
| SO ACC ID: | SO:0000170 | |||||||||
| Source: | MPROMDB | |||||||||
| Tissues & Cell Lines: | CD4+TCell, HeLa_S3, K562, Lymphoblastoid | |||||||||
| Transcripts: | RALGDS.GAPR07 | |||||||||
| Position: |
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| RGD ID: | 6807824 | |||||||||
| Promoter ID: | HG_KWN:65428 | |||||||||
| Type: | CpG-Island | |||||||||
| SO ACC ID: | SO:0000170 | |||||||||
| Source: | MPROMDB | |||||||||
| Tissues & Cell Lines: | CD4+TCell, CD4+TCell_12Hour, CD4+TCell_2Hour, HeLa_S3, K562, Lymphoblastoid, NB4 | |||||||||
| Transcripts: | ENST00000372047, OTTHUMT00000054837, UC004CCP.1 | |||||||||
| Position: |
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| RGD ID: | 6813689 | |||||||||
| Promoter ID: | HG_ACW:82812 | |||||||||
| Type: | Non-CpG | |||||||||
| SO ACC ID: | SO:0000170 | |||||||||
| Source: | MPROMDB | |||||||||
| Tissues & Cell Lines: | K562 | |||||||||
| Transcripts: | RALGDS.JAPR07 | |||||||||
| Position: |
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Clinical Variants| Name | Type | Condition(s) | Position(s) | Clinical significance |
| GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 | copy number gain | Global developmental delay [RCV000050347]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050348]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050348]|See cases [RCV000050348] | Chr9:193412..138179445 [GRCh38] Chr9:204193..141073897 [GRCh37] Chr9:194193..140193718 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh38/hg38 9q33.2-34.3(chr9:122792658-138124532)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051040]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051040]|See cases [RCV000051040] | Chr9:122792658..138124532 [GRCh38] Chr9:125554937..141018984 [GRCh37] Chr9:124594758..140138805 [NCBI36] Chr9:9q33.2-34.3 |
pathogenic |
| GRCh38/hg38 9q33.2-34.3(chr9:121112395-138075224)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051009]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051009]|See cases [RCV000051009] | Chr9:121112395..138075224 [GRCh38] Chr9:123874673..140969676 [GRCh37] Chr9:122914494..140089497 [NCBI36] Chr9:9q33.2-34.3 |
pathogenic |
| GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124532)x3 | copy number gain | Intrauterine growth retardation [RCV000053745]|See cases [RCV000053745] | Chr9:193412..138124532 [GRCh38] Chr9:204193..141018984 [GRCh37] Chr9:194193..140138805 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh38/hg38 9q34.11-34.3(chr9:129068560-136495351)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053779]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053779]|See cases [RCV000053779] | Chr9:129068560..136495351 [GRCh38] Chr9:131830839..139389803 [GRCh37] Chr9:130870660..138509624 [NCBI36] Chr9:9q34.11-34.3 |
pathogenic |
| GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|See cases [RCV000053748] | Chr9:193412..138179445 [GRCh38] Chr9:266045..141073897 [GRCh37] Chr9:256045..140193718 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh38/hg38 9q34.13-34.2(chr9:131406683-133852779)x4 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053812]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053812]|See cases [RCV000053812] | Chr9:131406683..133852779 [GRCh38] Chr9:134282070..136717901 [GRCh37] Chr9:133271891..135707722 [NCBI36] Chr9:9q34.13-34.2 |
pathogenic |
| GRCh38/hg38 9q33.2-34.3(chr9:121586837-138179445)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053776]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053776]|See cases [RCV000053776] | Chr9:121586837..138179445 [GRCh38] Chr9:124349116..141073897 [GRCh37] Chr9:123388937..140193718 [NCBI36] Chr9:9q33.2-34.3 |
pathogenic |
| GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053746]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053746]|See cases [RCV000053746] | Chr9:193412..138114463 [GRCh38] Chr9:214367..141008915 [GRCh37] Chr9:204367..140128736 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445) | copy number gain | See cases [RCV000133791] | Chr9:204193..138179445 [GRCh38] Chr9:204193..141073897 [GRCh37] Chr9:194193..140193718 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh38/hg38 9q34.11-34.3(chr9:130513207-138124532)x3 | copy number gain | See cases [RCV000133778] | Chr9:130513207..138124532 [GRCh38] Chr9:133388594..141018984 [GRCh37] Chr9:132378415..140138805 [NCBI36] Chr9:9q34.11-34.3 |
pathogenic |
| GRCh38/hg38 9q34.11-34.3(chr9:129068560-138179445)x3 | copy number gain | See cases [RCV000134916] | Chr9:129068560..138179445 [GRCh38] Chr9:131830839..141073897 [GRCh37] Chr9:130870660..140193718 [NCBI36] Chr9:9q34.11-34.3 |
pathogenic |
| GRCh38/hg38 9q33.2-34.3(chr9:121073102-138179445)x3 | copy number gain | See cases [RCV000134920] | Chr9:121073102..138179445 [GRCh38] Chr9:123835380..141073897 [GRCh37] Chr9:122875201..140193718 [NCBI36] Chr9:9q33.2-34.3 |
pathogenic |
| GRCh38/hg38 9q34.13-34.3(chr9:132986903-138114463)x3 | copy number gain | See cases [RCV000136790] | Chr9:132986903..138114463 [GRCh38] Chr9:135862290..141008915 [GRCh37] Chr9:134852111..140128736 [NCBI36] Chr9:9q34.13-34.3 |
pathogenic |
| GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3 | copy number gain | See cases [RCV000138783] | Chr9:193412..138124524 [GRCh38] Chr9:204090..141018976 [GRCh37] Chr9:194090..140138797 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3 | copy number gain | See cases [RCV000139207] | Chr9:193412..138159073 [GRCh38] Chr9:68420641..141053525 [GRCh37] Chr9:67910461..140173346 [NCBI36] Chr9:9p11.2-q34.3 |
pathogenic |
| GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3 | copy number gain | See cases [RCV000138962] | Chr9:193412..138159073 [GRCh38] Chr9:204104..141053525 [GRCh37] Chr9:194104..140173346 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic|conflicting data from submitters |
| GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3 | copy number gain | See cases [RCV000141876] | Chr9:203861..138125937 [GRCh38] Chr9:203861..141020389 [GRCh37] Chr9:193861..140140210 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh38/hg38 9q34.13-34.3(chr9:132386553-138059695)x3 | copy number gain | See cases [RCV000142636] | Chr9:132386553..138059695 [GRCh38] Chr9:135261940..140954147 [GRCh37] Chr9:134251761..140073968 [NCBI36] Chr9:9q34.13-34.3 |
pathogenic |
| GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3 | copy number gain | See cases [RCV000143476] | Chr9:203862..138125937 [GRCh38] Chr9:203862..141020389 [GRCh37] Chr9:193862..140140210 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 | copy number gain | See cases [RCV000148113] | Chr9:193412..138179445 [GRCh38] Chr9:204193..141073897 [GRCh37] Chr9:194193..140193718 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3 | copy number gain | See cases [RCV000240081] | Chr9:163131..141122114 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
| NM_006266.4(RALGDS):c.1895G>A (p.Arg632Gln) | single nucleotide variant | not provided [RCV000735079] | Chr9:133102797 [GRCh38] Chr9:135978184 [GRCh37] Chr9:9q34.2 |
uncertain significance |
| GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407) | copy number gain | See cases [RCV000449375] | Chr9:62525..141006407 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3 | copy number gain | See cases [RCV000447207] | Chr9:203861..141020389 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh37/hg19 9q34.13-34.2(chr9:135797171-136245956)x3 | copy number gain | See cases [RCV000447436] | Chr9:135797171..136245956 [GRCh37] Chr9:9q34.13-34.2 |
uncertain significance |
| GRCh37/hg19 9q33.3-34.3(chr9:128652785-141044751)x3 | copy number gain | See cases [RCV000447080] | Chr9:128652785..141044751 [GRCh37] Chr9:9q33.3-34.3 |
pathogenic |
| GRCh37/hg19 9q33.2-34.3(chr9:124642754-141146461)x3 | copy number gain | See cases [RCV000448784] | Chr9:124642754..141146461 [GRCh37] Chr9:9q33.2-34.3 |
pathogenic |
| GRCh37/hg19 9p24.3-q34.3(chr9:203864-141020389)x3 | copy number gain | See cases [RCV000448978] | Chr9:203864..141020389 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh37/hg19 9q34.13-34.3(chr9:135377559-141213431)x1 | copy number loss | mTOR Inhibitor response [RCV000626442] | Chr9:135377559..141213431 [GRCh37] Chr9:9q34.13-34.3 |
drug response |
| GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928) | copy number gain | Global developmental delay [RCV000626548]|Seizures [RCV000626548] | Chr9:71069743..140999928 [GRCh37] Chr9:9q21.11-34.3 |
likely pathogenic |
| GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389) | copy number gain | See cases [RCV000512392] | Chr9:203862..141020389 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh37/hg19 9q34.13-34.3(chr9:135105971-141020389)x3 | copy number gain | not provided [RCV000683160] | Chr9:135105971..141020389 [GRCh37] Chr9:9q34.13-34.3 |
pathogenic |
| GRCh37/hg19 9p24.3-q34.3(chr9:10590-141122247)x3 | copy number gain | not provided [RCV000748055] | Chr9:10590..141122247 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh37/hg19 9p24.3-q34.3(chr9:10590-141107672)x3 | copy number gain | not provided [RCV000748053] | Chr9:10590..141107672 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh37/hg19 9p24.3-q34.3(chr9:46587-141066491)x3 | copy number gain | not provided [RCV000748063] | Chr9:46587..141066491 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh37/hg19 9p24.3-q34.3(chr9:10590-141114095)x2 | copy number gain | not provided [RCV000748054] | Chr9:10590..141114095 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3 | copy number gain | not provided [RCV000845900] | Chr9:203861..141020388 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
| NC_000009.11:g.(?_134379574)_(138678377_?)dup | duplication | Ehlers-Danlos syndrome, classic type [RCV000807925] | Chr9:134379574..138678377 [GRCh37] Chr9:9q34.13-34.3 |
uncertain significance |
| GRCh37/hg19 9q34.13-34.2(chr9:135699918-136011082)x3 | copy number gain | not provided [RCV000845710] | Chr9:135699918..136011082 [GRCh37] Chr9:9q34.13-34.2 |
uncertain significance |
| GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3 | copy number gain | not provided [RCV000847808] | Chr9:71416475..141020389 [GRCh37] Chr9:9q21.11-34.3 |
pathogenic |
External Database Links| Database | Acc Id | Source(s) |
| AGR Gene | HGNC:9842 | AgrOrtholog |
| COSMIC | RALGDS | COSMIC |
| Ensembl Genes | ENSG00000160271 | ENTREZGENE, UniProtKB/Swiss-Prot |
| Ensembl Protein | ENSP00000361117 | ENTREZGENE, UniProtKB/Swiss-Prot |
| ENSP00000361120 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| ENSP00000361132 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| ENSP00000376864 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| ENSP00000376867 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| ENSP00000391814 | UniProtKB/TrEMBL | |
| ENSP00000494152 | UniProtKB/TrEMBL | |
| ENSP00000495963 | UniProtKB/TrEMBL | |
| Ensembl Transcript | ENST00000372047 | ENTREZGENE, UniProtKB/Swiss-Prot |
| ENST00000372050 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| ENST00000372062 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| ENST00000393157 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| ENST00000393160 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| ENST00000424572 | UniProtKB/TrEMBL | |
| ENST00000460587 | UniProtKB/TrEMBL | |
| ENST00000477660 | UniProtKB/TrEMBL | |
| Gene3D-CATH | 1.10.840.10 | UniProtKB/Swiss-Prot |
| GTEx | ENSG00000160271 | GTEx |
| HGNC ID | HGNC:9842 | ENTREZGENE |
| Human Proteome Map | RALGDS | Human Proteome Map |
| InterPro | RA_dom | UniProtKB/Swiss-Prot |
| RalGDS | UniProtKB/Swiss-Prot | |
| Ras-like_GEF | UniProtKB/Swiss-Prot | |
| Ras-like_Gua-exchang_fac_N | UniProtKB/Swiss-Prot | |
| Ras_G-nucl-exch_fac_CS | UniProtKB/Swiss-Prot | |
| Ras_GEF_dom_sf | UniProtKB/Swiss-Prot | |
| RASGEF_cat_dom | UniProtKB/Swiss-Prot | |
| RASGEF_cat_dom_sf | UniProtKB/Swiss-Prot | |
| Ubiquitin-like_domsf | UniProtKB/Swiss-Prot | |
| KEGG Report | hsa:5900 | UniProtKB/Swiss-Prot |
| NCBI Gene | 5900 | ENTREZGENE |
| OMIM | 601619 | OMIM |
| PANTHER | PTHR23113 | UniProtKB/Swiss-Prot |
| PTHR23113:SF35 | UniProtKB/Swiss-Prot | |
| Pfam | PF00788 | UniProtKB/Swiss-Prot |
| RasGEF | UniProtKB/Swiss-Prot | |
| RasGEF_N | UniProtKB/Swiss-Prot | |
| PharmGKB | PA34200 | PharmGKB |
| PROSITE | PS50200 | UniProtKB/Swiss-Prot |
| RASGEF | UniProtKB/Swiss-Prot | |
| RASGEF_CAT | UniProtKB/Swiss-Prot | |
| RASGEF_NTER | UniProtKB/Swiss-Prot | |
| SMART | RasGEF | UniProtKB/Swiss-Prot |
| RasGEFN | UniProtKB/Swiss-Prot | |
| SM00314 | UniProtKB/Swiss-Prot | |
| Superfamily-SCOP | SSF48366 | UniProtKB/Swiss-Prot |
| SSF54236 | UniProtKB/Swiss-Prot | |
| UniGene | Hs.106185 | ENTREZGENE |
| UniProt | A0A2R8YE90_HUMAN | UniProtKB/TrEMBL |
| A0A2R8YEX4_HUMAN | UniProtKB/TrEMBL | |
| GNDS_HUMAN | UniProtKB/Swiss-Prot, ENTREZGENE | |
| Q5T7U6_HUMAN | UniProtKB/TrEMBL | |
| Q8N4Y1 | ENTREZGENE, UniProtKB/TrEMBL | |
| Q9HAX8_HUMAN | UniProtKB/TrEMBL | |
| Q9HAX9_HUMAN | UniProtKB/TrEMBL | |
| Q9HAY0_HUMAN | UniProtKB/TrEMBL | |
| UniProt Secondary | B7Z753 | UniProtKB/Swiss-Prot |
| E7ER93 | UniProtKB/Swiss-Prot | |
| E7ERZ0 | UniProtKB/Swiss-Prot | |
| Q5T7V4 | UniProtKB/Swiss-Prot | |
| Q6KH11 | UniProtKB/Swiss-Prot | |
| Q6PCE1 | UniProtKB/Swiss-Prot | |
| Q6ZSD5 | UniProtKB/Swiss-Prot | |
| Q9HAX7 | UniProtKB/Swiss-Prot | |
| Q9HAY1 | UniProtKB/Swiss-Prot | |
| Q9HCT1 | UniProtKB/Swiss-Prot | |
| Q9P2N8 | UniProtKB/Swiss-Prot |
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| More on RALGDS | |
|
Alliance Gene |
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NCBI Gene |
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Ensembl Gene |
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JBrowse: hg19 hg38 |
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HGNC Report |
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NCBI Genome Data Viewer |
| CRRD Object Information | |
| CRRD ID: | 1351009 |
| Created: | 2005-03-08 |
| Species: | Homo sapiens |
| Last Modified: | 2019-11-26 |
| Status: | ACTIVE |
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.
