AutismKB 2.0

Evidence Details for TXNDC3


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Basic Information Top
Gene Symbol:TXNDC3 ( CILD6,NME8,SPTRX2 )
Gene Full Name: thioredoxin domain containing 3 (spermatozoa)
Band: 7p14.1
Quick LinksEntrez ID:51314; OMIM: 607421; Uniprot ID:TXND3_HUMAN; ENSEMBL ID: ENSG00000086288; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>TXNDC3|51314|nucleotide
ATGGCAAGCAAAAAACGAGAAGTCCAGTTACAGACAGTCATCAATAATCAAAGCCTGTGGGATGAGATGTTGCAGAACAAAGGCTTAACAGTGATTGATGTTTAC
CAAGCCTGGTGTGGACCTTGCAGAGCAATGCAACCTTTATTCAGAAAATTGAAAAATGAACTGAACGAAGACGAAATTCTGCATTTTGCTGTCGCAGAAGCTGAC
AACATTGTGACTTTGCAGCCATTTAGAGATAAATGTGAACCTGTTTTTCTCTTTAGTGTTAATGGCAAAATTATCGAAAAGATTCAGGGTGCAAATGCACCGCTT
GTTAATAAAAAAGTTATTAATTTGATCGATGAGGAGAGAAAAATTGCAGCAGGTGAAATGGCTCGACCTCAGTATCCTGAAATTCCATTAGTAGACTCAGATTCA
GAAGTTAGTGAAGAATCACCATGTGAAAGTGTTCAGGAATTATACAGTATTGCTATTATCAAACCGGATGCTGTGATTAGTAAAAAAGTTCTAGAAATTAAAAGA
AAAATTACCAAAGCTGGATTTATTATAGAAGCAGAGCATAAGACAGTGCTCACTGAAGAACAAGTTGTCAACTTCTATAGTCGAATAGCAGACCAGTGTGACTTC
GAAGAGTTTGTCTCTTTTATGACAAGTGGCTTAAGCTATATTCTAGTTGTATCTCAAGGAAGTAAACACAATCCTCCCTCTGAAGAAACCGAACCACAGACTGAC
ACCGAACCTAACGAACGATCTGAGGATCAACCTGAGGTCGAAGCCCAGGTTACACCTGGAATGATGAAGAACAAACAAGACAGTTTACAAGAATATCTGGAAAGA
CAACATTTAGCTCAGCTCTGTGACATTGAAGAGGATGCAGCTAATGTTGCTAAGTTCATGGATGCTTTCTTCCCCGATTTTAAAAAAATGAAAAGCATGAAATTA
GAAAAGACATTGGCATTACTTCGACCAAATCTCTTTCATGAAAGGAAAGATGATGTTTTGCGTATTATTAAAGATGAAGACTTCAAAATACTGGAGCAAAGACAA
GTAGTATTATCGGAAAAAGAAGCACAAGCACTGTGCAAGGAATATGAAAATGAAGACTATTTTAATAAACTTATAGAAAACATGACCAGTGGTCCATCTCTAGCC
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>TXNDC3|51314|protein
MASKKREVQLQTVINNQSLWDEMLQNKGLTVIDVYQAWCGPCRAMQPLFRKLKNELNEDEILHFAVAEADNIVTLQPFRDKCEPVFLFSVNGKIIEKIQGANAPL
VNKKVINLIDEERKIAAGEMARPQYPEIPLVDSDSEVSEESPCESVQELYSIAIIKPDAVISKKVLEIKRKITKAGFIIEAEHKTVLTEEQVVNFYSRIADQCDF
EEFVSFMTSGLSYILVVSQGSKHNPPSEETEPQTDTEPNERSEDQPEVEAQVTPGMMKNKQDSLQEYLERQHLAQLCDIEEDAANVAKFMDAFFPDFKKMKSMKL
EKTLALLRPNLFHERKDDVLRIIKDEDFKILEQRQVVLSEKEAQALCKEYENEDYFNKLIENMTSGPSLALVLLRDNGLQYWKQLLGPRTVEEAIEYFPESLCAQ
FAMDSLPVNQLYGSDSLETAEREIQHFFPLQSTLGLIKPHATSEQREQILKIVKEAGFDLTQVKKMFLTPEQIEKIYPKVTGKDFYKDLLEMLSVGPSMVMILTK
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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) 1 (1) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 4 (3)
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
Wolpert, 2001 - FISHautism - - - - 1 - 1
Linkage Studies Top