AutismKB 2.0

Evidence Details for ITCH


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Basic Information Top
Gene Symbol:ITCH ( AIF4,AIP4,NAPP1,dJ468O1.1 )
Gene Full Name: itchy E3 ubiquitin protein ligase homolog (mouse)
Band: 20q11.22
Quick LinksEntrez ID:83737; OMIM: 606409; Uniprot ID:ITCH_HUMAN; ENSEMBL ID: ENSG00000078747; HGNC ID: 13890
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ITCH|83737|nucleotide
ATGTCTGACAGTGGATCACAACTTGGTTCAATGGGTAGCCTCACCATGAAATCACAGCTTCAGATCACTGTCATCTCAGCAAAACTTAAGGAAAATAAGAAGAAT
TGGTTTGGACCAAGTCCTTACGTAGAGGTCACAGTAGATGGACAGTCAAAGAAGACAGAAAAATGCAACAACACAAACAGTCCCAAGTGGAAGCAACCCCTTACA
GTTATCGTTACCCCTGTGAGTAAATTACATTTTCGTGTGTGGAGTCACCAGACACTGAAATCTGATGTTTTGTTGGGAACTGCTGCATTAGATATTTATGAAACA
TTAAAGTCAAACAATATGAAACTTGAAGAAGTAGTTGTGACTTTGCAGCTTGGAGGTGACAAAGAGCCAACAGAGACAATAGGAGACTTGTCAATTTGTCTTGAT
GGGCTACAGTTAGAGTCTGAAGTTGTTACCAATGGTGAAACTACATGTTCAGAAAGTGCTTCTCAGAATGATGATGGCTCCAGATCCAAGGATGAAACAAGAGTG
AGCACAAATGGATCAGATGACCCTGAAGATGCAGGAGCTGGTGAAAATAGGAGAGTCAGTGGGAATAATTCTCCATCACTCTCAAATGGTGGTTTTAAACCTTCT
AGACCTCCAAGACCTTCACGACCACCACCACCCACCCCACGTAGACCAGCATCTGTCAATGGTTCACCATCTGCCACTTCTGAAAGTGATGGGTCTAGTACAGGC
TCTCTGCCGCCGACAAATACAAATACAAATACATCTGAAGGAGCAACATCTGGATTAATAATTCCTCTTACTATATCTGGAGGCTCAGGCCCTAGGCCATTAAAT
CCTGTAACTCAAGCTCCCTTGCCACCTGGTTGGGAGCAGAGAGTGGACCAGCACGGGCGAGTTTACTATGTAGATCATGTTGAGAAAAGAACAACATGGGATAGA
CCAGAACCTCTACCTCCTGGCTGGGAACGGCGGGTTGACAACATGGGACGTATTTATTATGTTGACCATTTCACAAGAACAACAACGTGGCAGAGGCCAACACTG
GAATCCGTCCGGAACTATGAACAATGGCAGCTACAGCGTAGTCAGCTTCAAGGAGCAATGCAGCAGTTTAACCAGAGATTCATTTATGGGAATCAAGATTTATTT
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>ITCH|83737|protein
MSDSGSQLGSMGSLTMKSQLQITVISAKLKENKKNWFGPSPYVEVTVDGQSKKTEKCNNTNSPKWKQPLTVIVTPVSKLHFRVWSHQTLKSDVLLGTAALDIYET
LKSNNMKLEEVVVTLQLGGDKEPTETIGDLSICLDGLQLESEVVTNGETTCSESASQNDDGSRSKDETRVSTNGSDDPEDAGAGENRRVSGNNSPSLSNGGFKPS
RPPRPSRPPPPTPRRPASVNGSPSATSESDGSSTGSLPPTNTNTNTSEGATSGLIIPLTISGGSGPRPLNPVTQAPLPPGWEQRVDQHGRVYYVDHVEKRTTWDR
PEPLPPGWERRVDNMGRIYYVDHFTRTTTWQRPTLESVRNYEQWQLQRSQLQGAMQQFNQRFIYGNQDLFATSQSKEFDPLGPLPPGWEKRTDSNGRVYFVNHNT
RITQWEDPRSQGQLNEKPLPEGWEMRFTVDGIPYFVDHNRRTTTYIDPRTGKSALDNGPQIAYVRDFKAKVQYFRFWCQQLAMPQHIKITVTRKTLFEDSFQQIM
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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 (1) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 2 (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
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Linkage Studies Top