AutismKB 2.0

Evidence Details for TAB1


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Basic Information Top
Gene Symbol:TAB1 ( 3'-Tab1,MAP3K7IP1,MGC57664 )
Gene Full Name: TGF-beta activated kinase 1/MAP3K7 binding protein 1
Band: 22q13.1
Quick LinksEntrez ID:10454; OMIM: 602615; Uniprot ID:TAB1_HUMAN; ENSEMBL ID: ENSG00000100324; HGNC ID: 18157
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>TAB1|10454|nucleotide
ATGGCGGCGCAGAGGAGGAGCTTGCTGCAGAGTGAGCAGCAGCCAAGCTGGACAGATGACCTGCCTCTCTGCCACCTCTCTGGGGTTGGCTCAGCCTCCAACCGC
AGCTACTCTGCTGATGGCAAGGGCACTGAGAGCCACCCGCCAGAGGACAGCTGGCTCAAGTTCAGGAGTGAGAACAACTGCTTCCTGTATGGGGTCTTCAACGGC
TATGATGGCAACCGAGTGACCAACTTCGTGGCCCAGCGGCTGTCCGCAGAGCTCCTGCTGGGCCAGCTGAATGCCGAGCACGCCGAGGCCGATGTGCGGCGTGTG
CTGCTGCAGGCCTTCGATGTGGTGGAGAGGAGCTTCCTGGAGTCCATTGACGACGCCTTGGCTGAGAAGGCAAGCCTCCAGTCGCAATTGCCAGAGGGAGTCCCT
CAGCACCAGCTGCCTCCTCAGTATCAGAAGATCCTTGAGAGACTCAAGACGTTAGAGAGGGAAATTTCGGGAGGGGCCATGGCCGTTGTGGCGGTCCTTCTCAAC
AACAAGCTCTACGTCGCCAATGTCGGTACAAACCGTGCACTTTTATGCAAATCGACAGTGGATGGGTTGCAGGTGACACAGCTGAACGTGGACCACACCACAGAG
AACGAGGATGAGCTCTTCCGTCTTTCGCAGCTGGGCTTGGATGCTGGAAAGATCAAGCAGGTGGGGATCATCTGTGGGCAGGAGAGCACCCGGCGGATCGGGGAT
TACAAGGTTAAATATGGCTACACGGACATTGACCTTCTCAGCGCTGCCAAGTCCAAACCAATCATCGCAGAGCCAGAAATCCATGGGGCACAGCCGCTGGATGGG
GTGACGGGCTTCTTGGTGCTGATGTCGGAGGGGTTGTACAAGGCCCTAGAGGCAGCCCATGGGCCTGGGCAGGCCAACCAGGAGATTGCTGCGATGATTGACACT
GAGTTTGCCAAGCAGACCTCCCTGGACGCAGTGGCCCAGGCCGTCGTGGACCGGGTGAAGCGCATCCACAGCGACACCTTCGCCAGTGGTGGGGAGCGTGCCAGG
TTCTGCCCCCGGCACGAGGACATGACCCTGCTAGTGAGGAACTTTGGCTACCCGCTGGGCGAAATGAGCCAGCCCACACCGAGCCCAGCCCCAGCTGCAGGAGGA
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>TAB1|10454|protein
MAAQRRSLLQSEQQPSWTDDLPLCHLSGVGSASNRSYSADGKGTESHPPEDSWLKFRSENNCFLYGVFNGYDGNRVTNFVAQRLSAELLLGQLNAEHAEADVRRV
LLQAFDVVERSFLESIDDALAEKASLQSQLPEGVPQHQLPPQYQKILERLKTLEREISGGAMAVVAVLLNNKLYVANVGTNRALLCKSTVDGLQVTQLNVDHTTE
NEDELFRLSQLGLDAGKIKQVGIICGQESTRRIGDYKVKYGYTDIDLLSAAKSKPIIAEPEIHGAQPLDGVTGFLVLMSEGLYKALEAAHGPGQANQEIAAMIDT
EFAKQTSLDAVAQAVVDRVKRIHSDTFASGGERARFCPRHEDMTLLVRNFGYPLGEMSQPTPSPAPAAGGRVYPVSVPYSSAQSTSKTSVTLSLVMPSQGQMVNG
AHSASTLDEATPTLTNQSPTLTLQSTNTHTQSSSSSSDGGLFRSRPAHSLPPGEDGRVEPYVDFAEFYRLWSVDHGEQSVVTAP
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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 (0) 1 (2) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 2 (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
Prasad, 2000 - FISHautism - - - - 1 - 1
Wassink, 2001 USA Chromosomal analysis of G-bandautism - - - - 278 - 278
Linkage Studies Top