AutismKB 2.0

Evidence Details for TIPARP


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Basic Information Top
Gene Symbol:TIPARP ( DKFZp434J214,DKFZp686N0351,DKFZp686P1838,FLJ40466,PARP7,pART14 )
Gene Full Name: TCDD-inducible poly(ADP-ribose) polymerase
Band: 3q25.31
Quick LinksEntrez ID:25976; OMIM: 612480; Uniprot ID:PARPT_HUMAN; ENSEMBL ID: ENSG00000163659; HGNC ID: 23696
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>TIPARP|25976|nucleotide
ATGGAAATGGAAACCACCGAACCTGAGCCAGACTGTGTAGTGCAGCCTCCCTCTCCTCCTGATGACTTTTCATGCCAAATGAGACTCTCTGAGAAGATCACTCCA
TTGAAGACTTGTTTTAAGAAAAAGGATCAGAAAAGATTGGGAACTGGAACCCTGAGGTCTTTGAGGCCAATATTAAACACTCTTCTAGAATCTGGCTCACTTGAT
GGGGTTTTTAGATCTAGGAACCAGAGTACAGATGAGAACAGCTTACATGAACCTATGATGAAGAAAGCCATGGAAATCAATTCATCATGCCCACCAGCAGAAAAT
AATATGTCTGTTCTGATTCCTGATAGGACAAATGTTGGGGACCAGATACCGGAAGCCCATCCTTCCACTGAAGCTCCAGAACGAGTGGTTCCAATCCAAGATCAC
AGCTTTCCATCAGAAACCCTCAGTGGGACGGTGGCAGATTCCACACCAGCTCACTTCCAGACTGATCTTTTGCACCCAGTTTCAAGTGATGTTCCTACTAGTCCT
GACTGCTTAGACAAAGTCATAGATTATGTTCCAGGCATTTTCCAAGAAAACAGTTTTACAATCCAATACATTCTGGACACCAGTGATAAGCTGAGTACTGAGCTC
TTTCAGGACAAAAGTGAAGAGGCTTCCCTTGACCTCGTGTTTGAGCTGGTGAACCAGTTGCAGTACCACACTCACCAAGAGAACGGAATTGAAATTTGCATGGAC
TTTCTGCAAGGCACTTGTATTTATGGCAGGGATTGTTTGAAGCACCACACTGTCTTGCCATATCATTGGCAGATCAAAAGGACAACTACTCAAAAGTGGCAGAGT
GTATTCAATGATTCTCAGGAGCACTTGGAAAGATTTTACTGTAACCCAGAAAATGATAGAATGAGAATGAAGTATGGAGGACAAGAATTTTGGGCAGATTTGAAT
GCCATGAACGTGTATGAAACAACTGAATTTGACCAACTACGAAGGCTGTCCACACCACCCTCTAGCAATGTCAACTCTATTTACCACACAGTCTGGAAATTCTTC
TGTAGGGACCACTTTGGATGGAGAGAGTATCCCGAGTCTGTCATTCGATTGATTGAAGAAGCCAACTCTCGGGGTCTGAAAGAGGTTCGATTTATGATGTGGAAT
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>TIPARP|25976|protein
MEMETTEPEPDCVVQPPSPPDDFSCQMRLSEKITPLKTCFKKKDQKRLGTGTLRSLRPILNTLLESGSLDGVFRSRNQSTDENSLHEPMMKKAMEINSSCPPAEN
NMSVLIPDRTNVGDQIPEAHPSTEAPERVVPIQDHSFPSETLSGTVADSTPAHFQTDLLHPVSSDVPTSPDCLDKVIDYVPGIFQENSFTIQYILDTSDKLSTEL
FQDKSEEASLDLVFELVNQLQYHTHQENGIEICMDFLQGTCIYGRDCLKHHTVLPYHWQIKRTTTQKWQSVFNDSQEHLERFYCNPENDRMRMKYGGQEFWADLN
AMNVYETTEFDQLRRLSTPPSSNVNSIYHTVWKFFCRDHFGWREYPESVIRLIEEANSRGLKEVRFMMWNNHYILHNSFFRREIKRRPLFRSCFILLPYLQTLGG
VPTQAPPPLEATSSSQIICPDGVTSANFYPETWVYMHPSQDFIQVPVSAEDKSYRIIYNLFHKTVPEFKYRILQILRVQNQFLWEKYKRKKEYMNRKMFGRDRII
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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) 0 (0) 0 (0) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 1 (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