AutismKB 2.0

Evidence Details for TAF1L


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:TAF1L ( MGC134910,TAF2A2 )
Gene Full Name: TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like
Band: 9p21.1
Quick LinksEntrez ID:138474; OMIM: 607798; Uniprot ID:TAF1L_HUMAN; ENSEMBL ID: ENSG00000122728; HGNC ID: 18056
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>TAF1L|138474|nucleotide
ATGCGACCCGGCTGCGATTTGCTGCTGAGGGCAGCAGCTACCGTCACTGCCGCCATCATGTCAGACTCGGACAGCGAGGAAGATTCATCTGGAGGTGGCCCATTT
ACTTTAGCGGGTATCCTTTTCGGCAACATCAGTGGAGCGGGGCAGCTGGAGGGGGAAAGCGTCTTGGATGATGAGTGTAAGAAGCACTTGGCAGGCTTGGGGGCT
TTGGGGCTGGGCAGCCTAATCACTGAACTCACGGCAAATGAAGAATTGACTGGGACTGGCGGTGCCTTGGTAAATGATGAAGGGTGGATTAGGAGTACAGAAGAT
GCTGTAGACTATTCAGACATCAATGAGGTGGCAGAAGATGAAAGCCAAAGACACCAGCAGACGATGGGGAGCTTGCAGCCCCTTTACCACTCGGATTATGATGAA
GATGACTATGATGCTGATTGTGAAGACATTGATTGCAAGTTGATGCCTCCTCCACCTCCACCCCCGGGACCAATGAAGAAGGATAAGGACCAAGATGCTATTACC
TGTGTGTCTGAAAGTGGAGAAGACATCATCTTGCCCTCCATCATTGCCCCTTCCTTTTTGGCCTCAGAGAAAGTGGATTTCAGTAGTTACTCTGATTCAGAATCT
GAGATGGGACCTCAGGAAGCAACACAGGCAGAATCTGAGGATGGAAAGCTGACCCTTCCATTGGCTGGGATTATGCAGCATGATGCCACCAAGCTGTTGCCAAGT
GTCACCGAACTTTTTCCAGAATTTCGACCTGGAAAAGTGTTACGCTTCCTACATCTTTTTGGACCAGGGAAGAATGTCCCATCTGTTTGGCGGAGTGCTCGGAGA
AAGAGGAAGAAGCATCGTGAGCTGATACAGGAAGAGCAGATCCAGGAGGTGGAATGCTCAGTAGAATCAGAAGTCAGCCAGAAGTCTTTGTGGAACTATGACTAT
GCTCCACCACCACCCCCAGAGCAGTGTCTCGCTGATGATGAAATCACGATGATGGTTCCTGTGGAGTCCAAATTTTCCCAATCAACTGGAGATGTAGATAAAGTG
ACAGATACCAAACCAAGAGTGGCTGAGTGGCGTTATGGGCCTGCCCGACTGTGGTATGATATGCTGGGTGTCTCCGAAGATGGCAGTGGGTTTGACTATGGCTTC
Show »

>TAF1L|138474|protein
MRPGCDLLLRAAATVTAAIMSDSDSEEDSSGGGPFTLAGILFGNISGAGQLEGESVLDDECKKHLAGLGALGLGSLITELTANEELTGTGGALVNDEGWIRSTED
AVDYSDINEVAEDESQRHQQTMGSLQPLYHSDYDEDDYDADCEDIDCKLMPPPPPPPGPMKKDKDQDAITCVSESGEDIILPSIIAPSFLASEKVDFSSYSDSES
EMGPQEATQAESEDGKLTLPLAGIMQHDATKLLPSVTELFPEFRPGKVLRFLHLFGPGKNVPSVWRSARRKRKKHRELIQEEQIQEVECSVESEVSQKSLWNYDY
APPPPPEQCLADDEITMMVPVESKFSQSTGDVDKVTDTKPRVAEWRYGPARLWYDMLGVSEDGSGFDYGFKLRKTQHEPVIKSRMMEEFRKLEESNGTDLLADEN
FLMVTQLHWEDSIIWDGEDIKHKGTKPQGASLAGWLPSIKTRNVMAYNVQQGFAPTLDDDKPWYSIFPIDNEDLVYGRWEDNIIWDAQAMPRLLEPPVLALDPND
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 (1) 0 (0) 0 (0) 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
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Linkage Studies Top