AutismKB 2.0

Evidence Details for TAP1


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Basic Information Top
Gene Symbol:TAP1 ( ABC17,ABCB2,APT1,D6S114E,FLJ26666,FLJ41500,PSF1,RING4,TAP1*0102N,TAP1N )
Gene Full Name: transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)
Band: 6p21.32
Quick LinksEntrez ID:6890; OMIM: 170260; Uniprot ID:TAP1_HUMAN; ENSEMBL ID: ENSG00000168394; HGNC ID: 43
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>TAP1|6890|nucleotide
ATGGCTGAGCTTCTCGCCAGCGCAGGATCAGCCTGTTCCTGGGACTTTCCGAGAGCCCCGCCCTCGTTCCCTCCCCCAGCCGCCAGTAGGGGAGGACTCGGCGGT
ACCCGGAGCTTCAGGCCCCACCGGGGCGCGGAGAGTCCCAGGCCCGGCCGGGACCGGGACGGCGTCCGAGTGCCAATGGCTAGCTCTAGGTGTCCCGCTCCCCGC
GGGTGCCGCTGCCTCCCCGGAGCTTCTCTCGCATGGCTGGGGACAGTACTGCTACTTCTCGCCGACTGGGTGCTGCTCCGGACCGCGCTGCCCCGCATATTCTCC
CTGCTGGTGCCCACCGCGCTGCCACTGCTCCGGGTCTGGGCGGTGGGCCTGAGCCGCTGGGCCGTGCTCTGGCTGGGGGCCTGCGGGGTCCTCAGGGCAACGGTT
GGCTCCAAGAGCGAAAACGCAGGTGCCCAGGGCTGGCTGGCTGCTTTGAAGCCATTAGCTGCGGCACTGGGCTTGGCCCTGCCGGGACTTGCCTTGTTCCGAGAG
CTGATCTCATGGGGAGCCCCCGGGTCCGCGGATAGCACCAGGCTACTGCACTGGGGAAGTCACCCTACCGCCTTCGTTGTCAGTTATGCAGCGGCACTGCCCGCA
GCAGCCCTGTGGCACAAACTCGGGAGCCTCTGGGTGCCCGGCGGTCAGGGCGGCTCTGGAAACCCTGTGCGTCGGCTTCTAGGCTGCCTGGGCTCGGAGACGCGC
CGCCTCTCGCTGTTCCTGGTCCTGGTGGTCCTCTCCTCTCTTGGGGAGATGGCCATTCCATTCTTTACGGGCCGCCTCACTGACTGGATTCTACAAGATGGCTCA
GCCGATACCTTCACTCGAAACTTAACTCTCATGTCCATTCTCACCATAGCCAGTGCAGTGCTGGAGTTCGTGGGTGACGGGATCTATAACAACACCATGGGCCAC
GTGCACAGCCACTTGCAGGGAGAGGTGTTTGGGGCTGTCCTGCGCCAGGAGACGGAGTTTTTCCAACAGAACCAGACAGGTAACATCATGTCTCGGGTAACAGAG
GACACGTCCACCCTGAGTGATTCTCTGAGTGAGAATCTGAGCTTATTTCTGTGGTACCTGGTGCGAGGCCTATGTCTCTTGGGGATCATGCTCTGGGGATCAGTG
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>TAP1|6890|protein
MAELLASAGSACSWDFPRAPPSFPPPAASRGGLGGTRSFRPHRGAESPRPGRDRDGVRVPMASSRCPAPRGCRCLPGASLAWLGTVLLLLADWVLLRTALPRIFS
LLVPTALPLLRVWAVGLSRWAVLWLGACGVLRATVGSKSENAGAQGWLAALKPLAAALGLALPGLALFRELISWGAPGSADSTRLLHWGSHPTAFVVSYAAALPA
AALWHKLGSLWVPGGQGGSGNPVRRLLGCLGSETRRLSLFLVLVVLSSLGEMAIPFFTGRLTDWILQDGSADTFTRNLTLMSILTIASAVLEFVGDGIYNNTMGH
VHSHLQGEVFGAVLRQETEFFQQNQTGNIMSRVTEDTSTLSDSLSENLSLFLWYLVRGLCLLGIMLWGSVSLTMVTLITLPLLFLLPKKVGKWYQLLEVQVRESL
AKSSQVAIEALSAMPTVRSFANEEGEAQKFREKLQEIKTLNQKEAVAYAVNSWTTSISGMLLKVGILYIGGQLVTSGAVSSGNLVTFVLYQMQFTQAVEVLLSIY
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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 (1) 0 (0) 0 (0) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 3 (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
Berkel, 2010 Canada SNP microarrayASD - - - - 396 5023 5419
Linkage Studies Top