Evidence Details for SVIL

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Basic Information Top

Gene Symbol:	SVIL ( DKFZp686A17191 )
Gene Full Name:	supervillin
Band:	10p11.23
Quick Links	Entrez ID:6840; OMIM: 604126; Uniprot ID:SVIL_HUMAN; ENSEMBL ID: ENSG00000197321; HGNC ID: 11480
Relate to Another Database:	SFARIGene; denovo-db

Sequences Top

Nucleotide Sequence
Protein Sequence

>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

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 (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
Reference	Stage	Platform	#Families	#Subjects (% Women)	ADI-R	ADOS	Diagnosis	Age (range)	IQ (range)	Result
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
Reference	Stage	Platform	#Subjects (% Women)	ADI-R	ADOS	Diagnosis	Age (range)	IQ	#Subjects (% Women)	Age (range)	Result
No Evidence.

CNV Studies Top

Reference	Source	Method	ADI-R	ADOS	Diagnosis	Family				Individual
Reference	Source	Method	ADI-R	ADOS	Diagnosis	Total	Simplex	Multiplex	Control	Affected	Control	Total
No matched CNVs !

Linkage Studies Top

Reference	Source	Method	ADI-R	ADOS	Diagnosis	Family				Individual
Reference	Source	Method	ADI-R	ADOS	Diagnosis	Total	Simplex	Multiplex	Control	Affected	Control	Total
Spence, 2006	USA	microsatellite-based genomic screen			ASD	133	-	133	-	280	-	-
Lauritsen, 2006	Faroe Islands	microsatellite-based genomic screen			autism	-	-	-	-	12	44	56

Low Scale Association Studies (by Ethnic Group) Top

Reference	Source	Platform	#Families	Affecteds	Result
#Subjects (% Women)	ADI-R	ADOS	Diagnosis	Age (range)	IQ (range)
No Evidence.

Reference	Source	Platfrom	ASD Cases	Normal Controls	Result
ADI-R	ADOS	Diagnosis	Age (range)	IQ	#Subjects (% Women)	Age (range)
No Evidence.

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 (-)	0.78	Down	-
Platform: a custom printed microarray containing 39,936 human PCR amplicon probes derived from cDNA clones purchased from Research Genetics (Invitrogen ) ProbeSet: - RefSeq_ID/ EST: AI291307 GEO_ID: GSE15451 Statistic Method: one-class SAM by MeV

Proteomics Studies:0

Reference	Source	Tissue	Platform	#Subjects (% Women)	ADI-R	ADOS	Diagnosis	Normal Controls(% Women)
No Evidence.

NGS de novo Mutation Studies Top

Reference	Case Number	Family Number	de novo Number	Title
Neale BM, 2012	175	175	173	Patterns and rates of exonic de novo mutations in autism spectrum disorders.
De Rubeis S, 2014	2270	-	1702	Synaptic, transcriptional and chromatin genes disrupted in autism

NGS Mosaic SNV Studies Top

Reference	Case Number	Family Number	Mosaic Number	Title
No matched NGS Mosaic SNVs!

NGS Other Studies Top

Reference	Source	Platform	ADI-R	ADOS	Diagnosis	Family			Affected	Validation Method
Reference	Source	Platform	ADI-R	ADOS	Diagnosis	Total	Simplex	Multiplex	Affected	Validation Method
No matched NGS Other Studies!

Low Scale Gene Studies Top

Reference	Organism	Tissue	ADI-R	ADOS	Diagnosis	Evidence Level	Result
No Evidence.

Contact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.

Simple Query:

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

Studies: 1,036
Genes: 1,379
CNVs/SVs: 5,420
SNVs/Indels: 11,669
de novo Mutations: 5,669
Mosaics: 789
Linkage Regions: 172

Paper Collected: 6/30/2018

Last Update: 8/26/2018

AutismKB 2.0

Evidence Details for SVIL

Simple Query:

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics