AutismKB 2.0

Evidence Details for SVIL


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Basic Information Top
Gene Symbol:SVIL ( DKFZp686A17191 )
Gene Full Name: supervillin
Band: 10p11.23
Quick LinksEntrez ID:6840; OMIM: 604126; Uniprot ID:SVIL_HUMAN; ENSEMBL ID: ENSG00000197321; HGNC ID: 11480
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SVIL|6840|nucleotide
ATGAAAAGAAAAGAAAGAATTGCCAGGCGCCTGGAAGGGATTGAAAATGACACTCAGCCCATCCTCTTGCAGAGCTGCACAGGATTGGTGACTCACCGCCTGCTG
GAGGAAGACACCCCTCGATACATGAGAGCCAGCGACCCTGCCAGCCCCCACATCGGCCGATCAAATGAAGAGGAGGAAACTTCTGATTCTTCTCTAGAAAAGCAA
ACTCGATCCAAATACTGCACAGAAACCTCCGGTGTCCACGGTGACTCACCCTATGGTTCGGGTACCATGGACACCCACAGTCTGGAGTCCAAAGCCGAAAGAATT
GCAAGGTACAAAGCAGAAAGAAGGCGACAGCTGGCAGAGAAGTATGGGCTGACTCTGGATCCCGAGGCCGACTCCGAGTATTTATCCCGCTATACCAAGTCCAGG
AAGGAGCCTGATGCTGTCGAGAAGCGGGGAGGAAAAAGTGACAAACAGGAAGAGTCAAGCAGAGATGCTAGTTCTCTGTACCCCGGGACCGAGACGATGGGGCTC
AGGACCTGTGCCGGTGAATCCAAGGACTATGCCCTCCATGTGGGTGACGGCTCTTCCGACCCGGAGGTGCTGCTGAACATAGAAAACCAAAGACGAGGTCAAGAG
CTGAGTGCCACCCGGCAGGCCCATGACCTGTCCCCAGCAGCCGAGAGTTCCTCGACCTTCTCTTTCTCTGGGCGAGACTCCTCCTTCACTGAAGTGCCACGGTCC
CCCAAGCACGCCCACAGCTCCTCCCTGCAGCAGGCAGCCTCCCGGAGCCCCTCCTTTGGTGACCCACAGCTATCCCCTGAGGCCCGACCCAGGTGCACTTCACAT
TCAGAAACGCCAACTGTCGATGATGAAGAAAAGGTGGATGAACGAGCCAAGCTGAGCGTCGCCGCCAAGAGGTTGCTTTTCAGGGAGATGGAAAAATCTTTTGAT
GAACAAAATGTTCCAAAGCGACGCTCAAGAAACACAGCTGTGGAGCAGAGGCTACGCCGTCTGCAGGACAGGTCCCTCACCCAGCCCATCACCACTGAAGAGGTG
GTCATCGCAGCCACATTGCAGGCCTCTGCTCACCAAAAGGCCTTAGCCAAGGACCAGACAAATGAGGGCAAAGAGCTTGCTGAGCAAGGAGAACCTGATTCCTCC
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>SVIL|6840|protein
MKRKERIARRLEGIENDTQPILLQSCTGLVTHRLLEEDTPRYMRASDPASPHIGRSNEEEETSDSSLEKQTRSKYCTETSGVHGDSPYGSGTMDTHSLESKAERI
ARYKAERRRQLAEKYGLTLDPEADSEYLSRYTKSRKEPDAVEKRGGKSDKQEESSRDASSLYPGTETMGLRTCAGESKDYALHVGDGSSDPEVLLNIENQRRGQE
LSATRQAHDLSPAAESSSTFSFSGRDSSFTEVPRSPKHAHSSSLQQAASRSPSFGDPQLSPEARPRCTSHSETPTVDDEEKVDERAKLSVAAKRLLFREMEKSFD
EQNVPKRRSRNTAVEQRLRRLQDRSLTQPITTEEVVIAATLQASAHQKALAKDQTNEGKELAEQGEPDSSTLSLAEKLALFNKLSQPVSKAISTRNRIDTRQRRM
NARYQTQPVTLGEVEQVQSGKLIPFSPAVNTSVSTVASTVAPMYAGDLRTKPPLDHNASATDYKFSSSIENSDSPVRSILKSQAWQPLVEGSENKGMLREYGETE
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Evidence summary Top

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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 (1) 0 (0) 1 (2) 0 (0) 1 (1) 0 (2) 0 (0) 0 (0) 0 (0) 3 (6)
Syndromic Autism Gene Top
Genome-Wide Association Studies (By Ethnic Group) Top
Family Based Association Studies: 1
Reference Stage Platform #Families Affecteds Result
#Subjects
(% Women)		 ADI-R ADOS Diagnosis Age
(range)		 IQ
(range)
CAUCASIAN
Hussman, 2011_1 Discovery Illumina Infinium Human 1 M beadship 597 -
(-)		ASD -
-		 -
-
Case Control Based Association Studies: 0
Reference Stage Platform ASD Cases Normal Controls Result
#Subjects
(% Women)		 ADI-R ADOS Diagnosis Age
(range)		 IQ #Subjects
(% Women)		 Age
(range)
No Evidence.
CNV Studies Top
Linkage Studies Top