AutismKB 2.0

Evidence Details for AHCTF1


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Basic Information Top
Gene Symbol:AHCTF1 ( DKFZp434N093,ELYS,MST108,TMBS62 )
Gene Full Name: AT hook containing transcription factor 1
Band: 1q44
Quick LinksEntrez ID:25909; OMIM: 610853; Uniprot ID:ELYS_HUMAN; ENSEMBL ID: ENSG00000153207; HGNC ID: 24618
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>AHCTF1|25909|nucleotide
ATGGCGGCGGAGCGGCGCTGTGGAAGTATGCGAGACTTAAGAGCTCAAGTGACTAGTGGTCTCCTGCCATTTCCAGAAGTGACTCTTCAAGCCCTTGGAGAAGAC
GAAATAACATTAGAATCTGTGCTTCGTGGAAAGTTTGCTGCAGGGAAAAATGGACTTGCTTGCTTGGCTTGTGGTCCACAACTTGAGGTAGTAAACTCTATAACA
GGAGAGCGATTGTCTGCTTACAGATTCAGTGGAGTCAATGAACAGCCTCCTGTAGTTTTAGCTGTGAAAGAATTCTCTTGGCAGAAGAGAACTGGATTATTAATA
GGATTGGAAGAAACAGAAGGGAGTGTTCTCTGTCTTTATGACCTTGGAATATCAAAAGTAGTTAAAGCAGTTGTTCTTCCTGGAAGGGTAACAGCTATTGAACCT
ATAATTAATCATGGAGGAGCCAGTGCAAGCACTCAGCATTTACATCCAAGTCTGCGATGGCTTTTTGGAGTGGCAGCTGTGGTCACTGATGTTGGACAGATCCTT
CTTGTTGACCTATGTTTGGATGACTTGTCATGCAATCAAAATGAAGTTGAAGCATCAGATCTTGAAGTTCTAACTGGTATCCCAGCTGAAGTACCACACATTAGA
GAAAGTGTAATGAGACAAGGGCGCCATCTGTGTTTCCAGTTAGTAAGTCCAACAGGAACAGCTGTTTCAACTCTTAGTTACATAAGCAGGACAAATCAGCTTGCT
GTAGGTTTTTCTGATGGCTATCTAGCACTTTGGAACATGAAAAGCATGAAAAGAGAATATTACATACAATTGGAAAGTGGACAAGTTCCTGTATATGCTGTCACT
TTTCAAGAACCTGAGAATGATCCTCGGAATTGCTGTTACTTGTGGGCTGTTCAGTCTACACAAGATAGTGAAGGGGATGTTTTGAGTTTGCATCTGCTGCAGCTG
GCCTTTGGTAATAGAAAGTGTTTGGCATCAGGACAAATCTTATATGAGGGGTTAGAATACTGTGAAGAAAGATACACCCTGGACCTGACAGGTGGCATGTTCCCT
TTGAGGGGACAGACGAGTAATACCAAATTGTTGGGATGCCAGAGTATAGAGAAATTTCGATCTCATGGTGACAGGGAGGAAGGCGTGAATGAAGCTCTATCGCCT
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>AHCTF1|25909|protein
MAAERRCGSMRDLRAQVTSGLLPFPEVTLQALGEDEITLESVLRGKFAAGKNGLACLACGPQLEVVNSITGERLSAYRFSGVNEQPPVVLAVKEFSWQKRTGLLI
GLEETEGSVLCLYDLGISKVVKAVVLPGRVTAIEPIINHGGASASTQHLHPSLRWLFGVAAVVTDVGQILLVDLCLDDLSCNQNEVEASDLEVLTGIPAEVPHIR
ESVMRQGRHLCFQLVSPTGTAVSTLSYISRTNQLAVGFSDGYLALWNMKSMKREYYIQLESGQVPVYAVTFQEPENDPRNCCYLWAVQSTQDSEGDVLSLHLLQL
AFGNRKCLASGQILYEGLEYCEERYTLDLTGGMFPLRGQTSNTKLLGCQSIEKFRSHGDREEGVNEALSPDTSVSVFTWQVNIYGQGKPSVYLGLFDINRWYHAQ
MPDSLRSGEYLHNCSYFALWSLESVVSRTSPHGILDILVHERSLNRGVPPSYPPPEQFFNPSTYNFDATCLLNSGVVHLTCTGFQKETLTFLKKSGPSLNELIPD
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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) 0 (2) 1 (1) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 2 (4)
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
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Linkage Studies Top