AutismKB 2.0

Evidence Details for VANGL1


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:VANGL1 ( KITENIN,LPP2,MGC5338,STB2,STBM2 )
Gene Full Name: vang-like 1 (van gogh, Drosophila)
Band: 1p13.1
Quick LinksEntrez ID:81839; OMIM: 610132; Uniprot ID:VANG1_HUMAN; ENSEMBL ID: ENSG00000173218; HGNC ID: 15512
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>VANGL1|81839|nucleotide
ATGGATACCGAATCCACTTATTCTGGATATTCTTACTATTCAAGTCATTCGAAAAAATCTCACAGACAAGGGGAAAGAACTAGAGAGAGACACAAGTCACCCCGG
AATAAAGACGGCAGAGGGTCAGAAAAGTCTGTCACCATTCAACCTCCCACTGGAGAGCCCCTGTTGGGAAATGATTCTACTCGGACAGAGGAAGATGACAACTGG
GGAGAGACCACCACGGCCATCACAGGCACCTCGGAGCACAGCATATCCCAAGAGGACATTGCCAGGATCAGCAAGGACATGGAGGACAGCGTGGGGCTGGATTGC
AAACGCTACCTGGGCCTCACCGTCGCCTCTTTTCTTGGACTTCTAGTTTTCCTCACCCCTATTGCCTTCATCCTTTTACCTCCGATCCTGTGGAGGGATGAGCTG
GAGCCTTGTGGCACAATTTGTGAGGGGCTCTTTATCTCCATGGCATTCAAACTCCTCATTCTGCTCATAGGGACCTGGGCACTTTTTTTCCGCAAGCGGAGAGCT
GACATGCCACGGGTGTTTGTGTTTCGTGCCCTTTTGTTGGTCCTCATCTTTCTCTTTGTGGTTTCCTATTGGCTTTTTTACGGGGTCCGCATTTTGGACTCTCGG
GACCGGAATTACCAGGGCATTGTGCAATATGCAGTCTCCCTTGTGGATGCCCTCCTCTTCATCCATTACCTGGCCATCGTCCTGCTGGAGCTCAGGCAGCTGCAG
CCCATGTTCACGCTGCAGGTGGTCCGCTCCACCGATGGCGAGTCCCGCTTCTACAGCCTGGGACACCTGAGTATCCAGCGAGCAGCATTGGTGGTCCTAGAAAAT
TACTACAAAGATTTCACCATCTATAACCCAAACCTCCTAACAGCCTCCAAATTCCGAGCAGCCAAGCATATGGCCGGGCTGAAAGTCTACAATGTAGATGGCCCC
AGTAACAATGCCACTGGCCAGTCCCGGGCCATGATTGCTGCAGCTGCTCGGCGCAGGGACTCAAGCCACAACGAGTTGTATTATGAAGAGGCCGAACATGAACGG
CGAGTAAAGAAGCGGAAAGCAAGGCTGGTGGTTGCAGTGGAAGAGGCCTTCATCCACATTCAGCGTCTCCAGGCTGAGGAGCAGCAGAAAGCCCCAGGGGAGGTG
Show »

>VANGL1|81839|protein
MDTESTYSGYSYYSSHSKKSHRQGERTRERHKSPRNKDGRGSEKSVTIQPPTGEPLLGNDSTRTEEDDNWGETTTAITGTSEHSISQEDIARISKDMEDSVGLDC
KRYLGLTVASFLGLLVFLTPIAFILLPPILWRDELEPCGTICEGLFISMAFKLLILLIGTWALFFRKRRADMPRVFVFRALLLVLIFLFVVSYWLFYGVRILDSR
DRNYQGIVQYAVSLVDALLFIHYLAIVLLELRQLQPMFTLQVVRSTDGESRFYSLGHLSIQRAALVVLENYYKDFTIYNPNLLTASKFRAAKHMAGLKVYNVDGP
SNNATGQSRAMIAAAARRRDSSHNELYYEEAEHERRVKKRKARLVVAVEEAFIHIQRLQAEEQQKAPGEVMDPREAAQAIFPSMARALQKYLRITRQQNYHSMES
ILQHLAFCITNGMTPKAFLERYLSAGPTLQYDKDRWLSTQWRLVSDEAVTNGLRDGIVFVLKCLDFSLVVNVKKIPFIILSEEFIDPKSHKFVLRLQSETSV
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) 0 (1) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (2)
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
Gai, 2011 AGRE SNP microarray--autism - - - - 1224 3801 5025
Linkage Studies Top