AutismKB 2.0

Evidence Details for SRBD1


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:SRBD1 ( FLJ10379 )
Gene Full Name: S1 RNA binding domain 1
Band: 2p21
Quick LinksEntrez ID:55133; OMIM: NA; Uniprot ID:SRBD1_HUMAN; ENSEMBL ID: ENSG00000068784; HGNC ID: 25521
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SRBD1|55133|nucleotide
ATGTCATCATTGCCAAGAAGAGCGAAAGTACAGGTCCAGGATGTGGTACTGAAAGATGAATTTTCTTCATTCTCTGAGTTATCATCTGCCTCTGAAGAAGATGAC
AAGGAAGATAGTGCCTGGGAGCCCCAAAAGAAAGTTCCCAGAAGCCGTAAACAGCCCCCTCCCAAGGAATCCAAACCAAAGAGGATGCCTCGGGTGAAGAAGAAT
GCCCCACAGATCAGTGATGGCTCAGAAGTCGTTGTTGTTAAGGAGGAGCTGAATAGCTCTGTGGCTATTGCTGATACTGCTTTAGAAGACAGAAAAAATAAATTG
GATACTGTACAGACTCTGAAAACAGCCAAGACAAAACAGAAATGTGCAGCGCAGCCACATACAGTTCGAAGGACTAAAAAGCTGAAAGTTGAAGAAGAAACCAGC
AAAGCCAGCAACTTAGAGGGTGAGAGTAATAGTTCAGAGACACCATCCACAAGCACTGTGTGGGGAGGTACATGCAAGAAGGAAGAGAATGACGATGACTTTACA
TTTGGTCAGTCCGCTTTAAAGAAAATCAAGACTGAGACATATCCTCAGGGGCAGCCTGTCAAGTTTCCAGCAAATGCCAATAGTACTAAAGAGGAGGTGGAAATG
AATTGGGACATGGTACAGGTTTTATCTGAGAGAACTAATATTGAACCTTGGGTTTGTGCCAACATCATTCGTCTCTTTAATGATGATAACACAATTCCCTTCATT
ATACGTTATAGAAAAGAGCTCATTAATAACCTTGATGCTGATTCCTTGAGAGAAGTTCAGCAAACCCTAGAAGAGCTACGGGCTGTTGCAAAGAAAGTTCATAGT
ACAATCCAGAAAATTAAGAAGGAAGGGAAGATGTCTGAGTGCTTGTTAAAAGCCATGCTGAATTGTAAAACTTTTGAAGAACTAGAACACGTGTCTGCTCCATAT
AAAACTGGAAGCAAAGGGACTAAAGCCCAGAGAGCAAGACAGTTGGGCTTAGAAGGAGCAGCCAGGGCACTGCTTGAGAAACCAGGGGAGCTCAGTCTGCTATCG
TACATTAGGCCTGACGTTAAAGGGCTTTCAACGCTTCAGGATATTGAAATAGGAGTGCAGCATATTTTAGCAGATATGATTGCTAAAGACAAAGACACGCTTGAC
Show »

>SRBD1|55133|protein
MSSLPRRAKVQVQDVVLKDEFSSFSELSSASEEDDKEDSAWEPQKKVPRSRKQPPPKESKPKRMPRVKKNAPQISDGSEVVVVKEELNSSVAIADTALEDRKNKL
DTVQTLKTAKTKQKCAAQPHTVRRTKKLKVEEETSKASNLEGESNSSETPSTSTVWGGTCKKEENDDDFTFGQSALKKIKTETYPQGQPVKFPANANSTKEEVEM
NWDMVQVLSERTNIEPWVCANIIRLFNDDNTIPFIIRYRKELINNLDADSLREVQQTLEELRAVAKKVHSTIQKIKKEGKMSECLLKAMLNCKTFEELEHVSAPY
KTGSKGTKAQRARQLGLEGAARALLEKPGELSLLSYIRPDVKGLSTLQDIEIGVQHILADMIAKDKDTLDFIRNLCQKRHVCIQSSLAKVSSKKVNEKDVDKFLL
YQHFSCNIRNIHHHQILAINRGENLKVLTVKVNISDGVKDEFCRWCIQNRWRPRSFARPELMKILYNSLNDSFKRLIYPLLCREFRAKLTSDAEKESVMMFGRNL
Show »

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) 1 (4) 0 (0) 0 (0) 0 (0) 2 (3) 0 (0) 0 (1) 0 (0) 22 (8)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Christian, 2008 USA aCGHASD 397 35 362 - 397 372 769
Bucan, 2009 USA SNP microarrayautism, ASD 912 - 912 - - 1488 1488
Gai, 2011 AGRE SNP microarray--autism - - - - 1224 3801 5025
Levy, 2011 Simons Simplex Collection aCGH--ASD 915 915 - - - - -
Linkage Studies Top