Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Ependymomas | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:26075792 | |
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Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Ependymomas | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:26075792 | |
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# | Reference Title | Reference Citation |
1. | GOAs Human GO annotations | GOA_HUMAN data from the GO Consortium |
2. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
3. | Mechanisms of biphasic insulin-granule exocytosis - roles of the cytoskeleton, small GTPases and SNARE proteins. | Wang Z and Thurmond DC, J Cell Sci. 2009 Apr 1;122(Pt 7):893-903. |
PMID:1648736 | PMID:2493636 | PMID:2501306 | PMID:2687157 | PMID:2732579 | PMID:7532276 | PMID:7991565 | PMID:8071310 | PMID:8226995 | PMID:8294464 | PMID:8432525 | PMID:8636125 |
PMID:8706741 | PMID:8889548 | PMID:9013620 | PMID:9194562 | PMID:9341137 | PMID:10025402 | PMID:10511453 | PMID:10574328 | PMID:10859313 | PMID:11134008 | PMID:11343654 | PMID:11377421 |
PMID:11516400 | PMID:11563859 | PMID:11773082 | PMID:11809763 | PMID:11846002 | PMID:11865063 | PMID:11884041 | PMID:12051743 | PMID:12176990 | PMID:12244319 | PMID:12477932 | PMID:12535645 |
PMID:12578829 | PMID:12590134 | PMID:12750892 | PMID:12937130 | PMID:14734538 | PMID:15005721 | PMID:15057824 | PMID:15159548 | PMID:15207266 | PMID:15217342 | PMID:15489334 | PMID:15854772 |
PMID:16099449 | PMID:16584842 | PMID:16722236 | PMID:17625073 | PMID:18029348 | PMID:18559336 | PMID:19546222 | PMID:19923287 | PMID:20029029 | PMID:20360680 | PMID:21163940 | PMID:21349835 |
PMID:21808068 | PMID:21873635 | PMID:22248876 | PMID:22753498 | PMID:22899725 | PMID:23344955 | PMID:24006491 | PMID:24561123 | PMID:24652202 | PMID:24769233 | PMID:24891604 | PMID:24965146 |
PMID:25416956 | PMID:25613138 | PMID:25713146 | PMID:26186194 | PMID:27325790 | PMID:27613869 | PMID:28298427 | PMID:28514442 | PMID:29564676 | PMID:29845934 | PMID:30575818 | PMID:30599141 |
PMID:30804014 | PMID:31686426 | PMID:31698103 | PMID:32296183 | PMID:32645484 | PMID:33961781 | PMID:35063084 | PMID:35271311 | PMID:35809645 | PMID:36604567 | PMID:36634849 | PMID:36724073 |
PMID:38512027 |
RAB3A (Homo sapiens - human) |
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Rab3a (Mus musculus - house mouse) |
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Rab3a (Rattus norvegicus - Norway rat) |
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Rab3a (Chinchilla lanigera - long-tailed chinchilla) |
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RAB3A (Pan paniscus - bonobo/pygmy chimpanzee) |
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RAB3A (Canis lupus familiaris - dog) |
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Rab3a (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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RAB3A (Sus scrofa - pig) |
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RAB3A (Chlorocebus sabaeus - green monkey) |
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Rab3a (Heterocephalus glaber - naked mole-rat) |
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Variants in RAB3A
11 total Variants |
Name | Type | Condition(s) | Position(s) | Clinical significance |
GRCh38/hg38 19p13.11-q13.11(chr19:17176767-34924150)x3 | copy number gain | See cases [RCV000050635] | Chr19:17176767..34924150 [GRCh38] Chr19:17287576..35415054 [GRCh37] Chr19:17148576..40106894 [NCBI36] Chr19:19p13.11-q13.11 |
pathogenic |
GRCh38/hg38 19p13.12-q11(chr19:13974677-27839676)x3 | copy number gain | See cases [RCV000052912] | Chr19:13974677..27839676 [GRCh38] Chr19:14085489..28330584 [GRCh37] Chr19:13946489..33022424 [NCBI36] Chr19:19p13.12-q11 |
pathogenic |
GRCh38/hg38 19p13.11(chr19:17922234-18463153)x1 | copy number loss | See cases [RCV000053946] | Chr19:17922234..18463153 [GRCh38] Chr19:18033043..18573963 [GRCh37] Chr19:17894043..18434963 [NCBI36] Chr19:19p13.11 |
pathogenic |
GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3 | copy number gain | See cases [RCV000133888] | Chr19:11227942..44626354 [GRCh38] Chr19:11338618..45129651 [GRCh37] Chr19:11199618..49821491 [NCBI36] Chr19:19p13.2-q13.31 |
pathogenic |
GRCh38/hg38 19p13.12-12(chr19:15133594-24193591)x3 | copy number gain | See cases [RCV000136696] | Chr19:15133594..24193591 [GRCh38] Chr19:15244405..24376393 [GRCh37] Chr19:15105405..24168233 [NCBI36] Chr19:19p13.12-12 |
pathogenic|likely pathogenic |
GRCh38/hg38 19p13.11(chr19:18133970-18424117)x1 | copy number loss | See cases [RCV000142944] | Chr19:18133970..18424117 [GRCh38] Chr19:18244780..18534927 [GRCh37] Chr19:18105780..18395927 [NCBI36] Chr19:19p13.11 |
uncertain significance |
GRCh37/hg19 19p13.11-11(chr19:16526787-24631604)x3 | copy number gain | not provided [RCV000752593] | Chr19:16526787..24631604 [GRCh37] Chr19:19p13.11-11 |
pathogenic |
GRCh37/hg19 19p13.11(chr19:18304742-18311144)x3 | copy number gain | See cases [RCV000449431] | Chr19:18304742..18311144 [GRCh37] Chr19:19p13.11 |
benign |
GRCh37/hg19 19p13.11(chr19:18136482-19087534)x3 | copy number gain | See cases [RCV000449006] | Chr19:18136482..19087534 [GRCh37] Chr19:19p13.11 |
uncertain significance |
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3 | copy number gain | See cases [RCV000511289] | Chr19:260912..58956888 [GRCh37] Chr19:19p13.3-q13.43 |
pathogenic|uncertain significance |
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888) | copy number gain | See cases [RCV000512296] | Chr19:260912..58956888 [GRCh37] Chr19:19p13.3-q13.43 |
pathogenic |
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3 | copy number gain | not provided [RCV000752439] | Chr19:68029..59110290 [GRCh37] Chr19:19p13.3-q13.43 |
pathogenic |
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3 | copy number gain | not provided [RCV000752444] | Chr19:260912..59097160 [GRCh37] Chr19:19p13.3-q13.43 |
pathogenic |
NM_002866.5(RAB3A):c.472+10C>G | single nucleotide variant | not provided [RCV000923777] | Chr19:18198715 [GRCh38] Chr19:18309525 [GRCh37] Chr19:19p13.11 |
likely benign |
NM_002866.5(RAB3A):c.270A>G (p.Ala90=) | single nucleotide variant | not provided [RCV000900504] | Chr19:18200404 [GRCh38] Chr19:18311214 [GRCh37] Chr19:19p13.11 |
likely benign |
GRCh37/hg19 19p13.12-12(chr19:14286624-20956753)x3 | copy number gain | not provided [RCV001259370] | Chr19:14286624..20956753 [GRCh37] Chr19:19p13.12-12 |
pathogenic |
NM_002866.5(RAB3A):c.285T>C (p.Ala95=) | single nucleotide variant | not provided [RCV001822058] | Chr19:18200389 [GRCh38] Chr19:18311199 [GRCh37] Chr19:19p13.11 |
benign |
NC_000019.9:g.(?_17927663)_(19312528_?)dup | duplication | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV003116292] | Chr19:17927663..19312528 [GRCh37] Chr19:19p13.11 |
uncertain significance |
NM_002866.5(RAB3A):c.464A>G (p.Asp155Gly) | single nucleotide variant | Inborn genetic diseases [RCV002969318] | Chr19:18198733 [GRCh38] Chr19:18309543 [GRCh37] Chr19:19p13.11 |
uncertain significance |
NM_002866.5(RAB3A):c.20C>G (p.Ser7Trp) | single nucleotide variant | Inborn genetic diseases [RCV002841784] | Chr19:18202721 [GRCh38] Chr19:18313531 [GRCh37] Chr19:19p13.11 |
uncertain significance |
NM_002866.5(RAB3A):c.585C>A (p.Asp195Glu) | single nucleotide variant | Inborn genetic diseases [RCV002758961] | Chr19:18197548 [GRCh38] Chr19:18308358 [GRCh37] Chr19:19p13.11 |
uncertain significance |
NM_002866.5(RAB3A):c.650A>C (p.Asp217Ala) | single nucleotide variant | Inborn genetic diseases [RCV002648817] | Chr19:18197483 [GRCh38] Chr19:18308293 [GRCh37] Chr19:19p13.11 |
uncertain significance |
NM_002866.5(RAB3A):c.427C>T (p.Arg143Trp) | single nucleotide variant | Inborn genetic diseases [RCV002719212] | Chr19:18198770 [GRCh38] Chr19:18309580 [GRCh37] Chr19:19p13.11 |
uncertain significance |
NM_002866.5(RAB3A):c.452G>A (p.Arg151Gln) | single nucleotide variant | Inborn genetic diseases [RCV002965701] | Chr19:18198745 [GRCh38] Chr19:18309555 [GRCh37] Chr19:19p13.11 |
uncertain significance |
NM_002866.5(RAB3A):c.514G>A (p.Val172Ile) | single nucleotide variant | Inborn genetic diseases [RCV002678558] | Chr19:18197619 [GRCh38] Chr19:18308429 [GRCh37] Chr19:19p13.11 |
uncertain significance |
NM_002866.5(RAB3A):c.490G>A (p.Ala164Thr) | single nucleotide variant | Inborn genetic diseases [RCV003212180] | Chr19:18197643 [GRCh38] Chr19:18308453 [GRCh37] Chr19:19p13.11 |
uncertain significance |
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. |
RH71434 |
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RAB3A_1804 |
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STS-H95222 |
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WI-22566 |
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alimentary part of gastrointestinal system | circulatory system | endocrine system | exocrine system | hemolymphoid system | hepatobiliary system | integumental system | musculoskeletal system | nervous system | renal system | reproductive system | respiratory system | sensory system | visual system | adipose tissue | appendage | entire extraembryonic component | pharyngeal arch | |
High | 5 | |||||||||||||||||
Medium | 528 | 1054 | 439 | 8 | 174 | 7 | 689 | 510 | 3029 | 92 | 403 | 147 | 4 | 1 | 29 | 396 | ||
Low | 1908 | 1928 | 1272 | 604 | 1741 | 446 | 3614 | 1635 | 700 | 325 | 1055 | 1464 | 170 | 1165 | 2341 | 5 | 2 | |
Below cutoff | 3 | 9 | 15 | 12 | 30 | 12 | 53 | 52 | 2 | 2 | 2 | 10 | 51 | 1 |
RefSeq Transcripts | NM_002866 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
GenBank Nucleotide | AC068499 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AF254795 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AF498931 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AH008048 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK289559 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK293467 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC011782 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BM717329 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH471106 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CP068259 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DB497194 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
M28210 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
X13900 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENST00000222256 ⟹ ENSP00000222256 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000464076 ⟹ ENSP00000474603 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000481914 ⟹ ENSP00000472335 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000515410 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_002866 ⟹ NP_002857 | ||||||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
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Sequence: |
Protein RefSeqs | NP_002857 | (Get FASTA) | NCBI Sequence Viewer |
GenBank Protein | AAA60242 | (Get FASTA) | NCBI Sequence Viewer |
AAF67385 | (Get FASTA) | NCBI Sequence Viewer | |
AAF67748 | (Get FASTA) | NCBI Sequence Viewer | |
AAH11782 | (Get FASTA) | NCBI Sequence Viewer | |
AAM21079 | (Get FASTA) | NCBI Sequence Viewer | |
BAF82248 | (Get FASTA) | NCBI Sequence Viewer | |
BAG56961 | (Get FASTA) | NCBI Sequence Viewer | |
CAA32100 | (Get FASTA) | NCBI Sequence Viewer | |
EAW84672 | (Get FASTA) | NCBI Sequence Viewer | |
EAW84673 | (Get FASTA) | NCBI Sequence Viewer | |
EAW84674 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSP00000222256 | ||
ENSP00000222256.3 | |||
ENSP00000472335.1 | |||
ENSP00000474603.1 | |||
GenBank Protein | P20336 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_002857 ⟸ NM_002866 |
- UniProtKB: | A8K0J4 (UniProtKB/Swiss-Prot), Q9NYE1 (UniProtKB/Swiss-Prot), P20336 (UniProtKB/Swiss-Prot), A0A024R7I7 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | ENSP00000474603 ⟸ ENST00000464076 |
RefSeq Acc Id: | ENSP00000472335 ⟸ ENST00000481914 |
RefSeq Acc Id: | ENSP00000222256 ⟸ ENST00000222256 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-P20336-F1-model_v2 | AlphaFold | P20336 | 1-220 | view protein structure |
RGD ID: | 6814665 | ||||||||
Promoter ID: | HG_XEF:3947 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | CD4+TCell, CD4+TCell_12Hour, CD4+TCell_2Hour | ||||||||
Transcripts: | NM_001002679, NM_001003419, NM_001016426, NM_001017761, NM_001044155, NM_001094522, NM_001095062, NM_001123179, NM_001123495, NM_001127284, NM_001173892, NM_013018, NM_211707 | ||||||||
Position: |
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RGD ID: | 6795103 | ||||||||
Promoter ID: | HG_KWN:29288 | ||||||||
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: | OTTHUMT00000268055, OTTHUMT00000268056, OTTHUMT00000268057, OTTHUMT00000268058 | ||||||||
Position: |
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RGD ID: | 7239115 | ||||||||
Promoter ID: | EPDNEW_H25302 | ||||||||
Type: | initiation region | ||||||||
Name: | RAB3A_1 | ||||||||
Description: | RAB3A, member RAS oncogene family | ||||||||
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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Database | Acc Id | Source(s) |
AGR Gene | HGNC:9777 | AgrOrtholog |
COSMIC | RAB3A | COSMIC |
Ensembl Genes | ENSG00000105649 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Ensembl Transcript | ENST00000222256 | ENTREZGENE |
ENST00000222256.9 | UniProtKB/Swiss-Prot | |
ENST00000464076.3 | UniProtKB/TrEMBL | |
ENST00000481914.2 | UniProtKB/TrEMBL | |
Gene3D-CATH | 3.40.50.300 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
GTEx | ENSG00000105649 | GTEx |
HGNC ID | HGNC:9777 | ENTREZGENE |
Human Proteome Map | RAB3A | Human Proteome Map |
InterPro | P-loop_NTPase | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Rab3 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Small_GTP-bd_dom | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Small_GTPase | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
KEGG Report | hsa:5864 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
NCBI Gene | 5864 | ENTREZGENE |
OMIM | 179490 | OMIM |
PANTHER | LD44762P | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
RAS-RELATED PROTEIN RAB-3A | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Pfam | Ras | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PharmGKB | PA34132 | PharmGKB |
PRINTS | RASTRNSFRMNG | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PROSITE | RAB | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
RAS | UniProtKB/TrEMBL | |
RHO | UniProtKB/TrEMBL | |
SMART | RAB | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
RAN | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
RAS | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
RHO | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Superfamily-SCOP | SSF52540 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
UniProt | A0A024R7I7 | ENTREZGENE, UniProtKB/TrEMBL |
A8K0J4 | ENTREZGENE | |
M0R257_HUMAN | UniProtKB/TrEMBL | |
P20336 | ENTREZGENE | |
Q9NYE1 | ENTREZGENE | |
RAB3A_HUMAN | UniProtKB/Swiss-Prot | |
S4R3Q3_HUMAN | UniProtKB/TrEMBL | |
UniProt Secondary | A8K0J4 | UniProtKB/Swiss-Prot |
Q9NYE1 | UniProtKB/Swiss-Prot |