Evidence Details for RAB3A
Basic Information Top
Gene Symbol: | RAB3A ( - ) |
---|---|
Gene Full Name: | RAB3A, member RAS oncogene family |
Band: | 19p13.11 |
Quick Links | Entrez ID:5864; OMIM: 179490; Uniprot ID:RAB3A_HUMAN; ENSEMBL ID: ENSG00000105649; HGNC ID: 9777 |
Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>RAB3A|5864|nucleotide
ATGGCATCCGCCACAGACTCGCGCTATGGGCAGAAGGAGTCCTCGGATCAGAACTTCGACTACATGTTCAAGATTCTCATCATCGGCAACAGCAGCGTGGGCAAG
ACGTCCTTCCTCTTCCGCTATGCTGACGACTCGTTCACGCCTGCCTTCGTCAGCACCGTGGGCATCGACTTCAAGGTCAAGACCATCTATCGCAACGACAAGAGG
ATCAAGCTGCAGATCTGGGACACAGCAGGGCAAGAGCGGTACCGGACCATCACCACCGCATACTACCGGGGCGCTATGGGCTTCATCCTCATGTATGACATCACC
AACGAGGAATCCTTCAATGCAGTGCAGGACTGGTCCACCCAGATCAAGACCTACTCATGGGACAATGCCCAGGTGCTGCTGGTAGGAAACAAGTGTGACATGGAG
GATGAGCGGGTGGTGTCATCAGAACGTGGCCGGCAGCTAGCTGACCACCTTGGGTTCGAGTTCTTTGAGGCAAGCGCCAAGGACAACATTAACGTCAAGCAGACC
TTTGAGCGCCTGGTGGATGTCATCTGCGAGAAGATGTCCGAGTCGTTGGACACGGCGGACCCTGCGGTCACAGGCGCCAAGCAGGGCCCACAGCTCAGTGACCAG
CAGGTGCCACCGCACCAGGACTGCGCCTGCTGA
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ATGGCATCCGCCACAGACTCGCGCTATGGGCAGAAGGAGTCCTCGGATCAGAACTTCGACTACATGTTCAAGATTCTCATCATCGGCAACAGCAGCGTGGGCAAG
ACGTCCTTCCTCTTCCGCTATGCTGACGACTCGTTCACGCCTGCCTTCGTCAGCACCGTGGGCATCGACTTCAAGGTCAAGACCATCTATCGCAACGACAAGAGG
ATCAAGCTGCAGATCTGGGACACAGCAGGGCAAGAGCGGTACCGGACCATCACCACCGCATACTACCGGGGCGCTATGGGCTTCATCCTCATGTATGACATCACC
AACGAGGAATCCTTCAATGCAGTGCAGGACTGGTCCACCCAGATCAAGACCTACTCATGGGACAATGCCCAGGTGCTGCTGGTAGGAAACAAGTGTGACATGGAG
GATGAGCGGGTGGTGTCATCAGAACGTGGCCGGCAGCTAGCTGACCACCTTGGGTTCGAGTTCTTTGAGGCAAGCGCCAAGGACAACATTAACGTCAAGCAGACC
TTTGAGCGCCTGGTGGATGTCATCTGCGAGAAGATGTCCGAGTCGTTGGACACGGCGGACCCTGCGGTCACAGGCGCCAAGCAGGGCCCACAGCTCAGTGACCAG
CAGGTGCCACCGCACCAGGACTGCGCCTGCTGA
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>RAB3A|5864|protein
MASATDSRYGQKESSDQNFDYMFKILIIGNSSVGKTSFLFRYADDSFTPAFVSTVGIDFKVKTIYRNDKRIKLQIWDTAGQERYRTITTAYYRGAMGFILMYDIT
NEESFNAVQDWSTQIKTYSWDNAQVLLVGNKCDMEDERVVSSERGRQLADHLGFEFFEASAKDNINVKQTFERLVDVICEKMSESLDTADPAVTGAKQGPQLSDQ
QVPPHQDCAC
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MASATDSRYGQKESSDQNFDYMFKILIIGNSSVGKTSFLFRYADDSFTPAFVSTVGIDFKVKTIYRNDKRIKLQIWDTAGQERYRTITTAYYRGAMGFILMYDIT
NEESFNAVQDWSTQIKTYSWDNAQVLLVGNKCDMEDERVVSSERGRQLADHLGFEFFEASAKDNINVKQTFERLVDVICEKMSESLDTADPAVTGAKQGPQLSDQ
QVPPHQDCAC
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Evidence summary Top
Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
Evidences | Syndromic Gene | GWAS | CNV | Linkage | Association | Expression | NGS de novo | NGS Mosaic | NGS Other | Low-Scale Gene Studies | Total |
---|---|---|---|---|---|---|---|---|---|---|---|
Score (No. of Studies) | No | 0 (0) | 0 (0) | 1 (1) | 0 (0) | 1 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (1) | 3 (3) |
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top
Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
---|---|---|---|---|---|---|---|---|---|---|---|---|
Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
McCauley, 2005 | - | microsatellite-based genomic screen | autism | 158 | - | 158 | - | 333 | - | - |
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
Microarray Studies: 1
Reference | Source | Tissue | #Subjects (% Women) |
ADI-R | ADOS | Endo- pheno | Diagnosis | Normal Controls (% Women) |
Fold Change | Up/ Down | P/Q value | |
---|---|---|---|---|---|---|---|---|---|---|---|---|
Hu, 2009_1 | mixed | lymphoblastoid cell lines | 21 (-) | autism with nonaffected sib pairs | autism | 17 (-) |
1.22 | Up | - | |||
|
Proteomics Studies:0
Reference | Source | Tissue | Platform | #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Normal Controls(% Women) | |
---|---|---|---|---|---|---|---|---|---|
No Evidence. |
NGS de novo Mutation Studies Top
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top
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