AutismKB 2.0

Evidence Details for DHTKD1


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Basic Information Top
Gene Symbol:DHTKD1 ( DKFZp762M115,KIAA1630,MGC3090 )
Gene Full Name: dehydrogenase E1 and transketolase domain containing 1
Band: 10p14
Quick LinksEntrez ID:55526; OMIM: NA; Uniprot ID:DHTK1_HUMAN; ENSEMBL ID: ENSG00000181192; HGNC ID: 23537
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>DHTKD1|55526|nucleotide
ATGGCCTCTGCTACTGCGGCAGCAGCACGACGGGGCCTCGGCCGGGCTCTCCCTCTCCTCTGGCGTGGCTACCAGACCGAGCGGGGCGTTTACGGCTACCGGCCG
AGGAAGCCCGAGAGCCGCGAGCCCCAGGGCGCCCTGGAGCGCCCCCCAGTTGATCATGGCCTTGCCAGGTTGGTGACAGTATATTGTGAGCATGGTCATAAAGCT
GCCAAAATCAACCCCCTCTTCACCGGACAAGCCCTGCTGGAGAATGTGCCTGAAATCCAAGCCCTGGTGCAGACACTGCAGGGACCCTTCCACACGGCAGGATTA
TTGAACATGGGGAAGGAAGAGGCCTCACTTGAGGAAGTGTTAGTCTATCTCAATCAAATCTACTGTGGGCAGATTTCTATTGAAACCTCCCAACTTCAGAGCCAG
GATGAGAAAGACTGGTTTGCCAAGCGGTTTGAGGAACTGCAAAAGGAGACGTTTACCACAGAAGAGCGAAAACATCTGTCGAAACTAATGCTGGAATCTCAGGAG
TTTGACCACTTTCTGGCCACCAAGTTCTCGACAGTGAAGCGATATGGAGGCGAAGGGGCTGAAAGCATGATGGGCTTTTTCCACGAGCTGCTGAAAATGTCGGCC
TACAGCGGGATCACTGATGTCATTATTGGGATGCCCCATAGAGGGAGGCTGAATTTATTGACAGGCCTTCTGCAGTTCCCTCCAGAGCTGATGTTCCGTAAAATG
CGAGGCTTAAGTGAATTTCCAGAGAATTTCTCAGCCACTGGAGACGTCCTGTCTCACCTGACCTCCTCTGTGGACCTGTACTTTGGGGCGCACCATCCCCTCCAT
GTGACAATGTTGCCCAATCCCTCGCACCTGGAGGCCGTCAACCCCGTGGCCGTGGGCAAAACTCGCGGCAGGCAGCAGTCTCGCCAAGACGGCGATTACTCTCCA
GACAACTCAGCCCAGCCGGGGGACAGGGTCATTTGCTTACAGGTCCATGGTGATGCTTCTTTCTGTGGTCAAGGGATTGTTCCTGAAACATTCACGCTGTCCAAT
CTCCCACATTTCAGAATTGGTGGGAGTGTGCATTTGATTGTTAATAACCAGCTGGGTTACACCACTCCAGCTGAAAGAGGAAGGTCTTCTTTATACTGCAGTGAT
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>DHTKD1|55526|protein
MASATAAAARRGLGRALPLLWRGYQTERGVYGYRPRKPESREPQGALERPPVDHGLARLVTVYCEHGHKAAKINPLFTGQALLENVPEIQALVQTLQGPFHTAGL
LNMGKEEASLEEVLVYLNQIYCGQISIETSQLQSQDEKDWFAKRFEELQKETFTTEERKHLSKLMLESQEFDHFLATKFSTVKRYGGEGAESMMGFFHELLKMSA
YSGITDVIIGMPHRGRLNLLTGLLQFPPELMFRKMRGLSEFPENFSATGDVLSHLTSSVDLYFGAHHPLHVTMLPNPSHLEAVNPVAVGKTRGRQQSRQDGDYSP
DNSAQPGDRVICLQVHGDASFCGQGIVPETFTLSNLPHFRIGGSVHLIVNNQLGYTTPAERGRSSLYCSDIGKLVGCAIIHVNGDSPEEVVRATRLAFEYQRQFR
KDVIIDLLCYRQWGHNELDEPFYTNPIMYKIIRARKSIPDTYAEHLIAGGLMTQEEVSEIKSSYYAKLNDHLNNMAHYRPPALNLQAHWQGLAQPEAQITTWSTG
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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 (1) 1 (3) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 2 (5)
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
Linkage Studies Top