AutismKB 2.0

Evidence Details for KIAA1598


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Basic Information Top
Gene Symbol:KIAA1598 ( DKFZp686A0439,MGC40476,SHOOTIN1,shootin-1 )
Gene Full Name: KIAA1598
Band: 10q25.3
Quick LinksEntrez ID:57698; OMIM: 611171; Uniprot ID:SHOT1_HUMAN; ENSEMBL ID: ENSG00000187164; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>KIAA1598|57698|nucleotide
ATGAACAGCTCGGACGAAGAGAAGCAGCTGCAGCTCATTACCAGTCTGAAGGAGCAAGCAATAGGCGAATATGAAGACCTTAGAGCAGAGAACCAGAAAACAAAG
GAGAAGTGTGACAAAATTAGGCAAGAACGAGATGAAGCCGTTAAAAAACTGGAAGAATTTCAGAAAATTTCTCACATGGTCATAGAGGAAGTTAATTTCATGCAG
AACCATCTTGAAATAGAGAAGACTTGTCGAGAAAGTGCTGAAGCTTTGGCAACAAAGCTAAATAAAGAAAATAAAACGTTGAAAAGAATCAGCATGTTGTACATG
GCCAAGCTGGGACCAGATGTAATAACTGAAGAGATAAACATTGATGATGAAGATTCGACTACAGACACAGACGGTGCCGCCGAGACTTGTGTCTCAGTACAGTGT
CAGAAGCAAATTAAAGAACTTCGAGATCAAATTGTATCTGTTCAGGAGGAAAAGAAGATTTTAGCCATTGAGCTGGAAAATCTCAAGAGCAAACTCGTAGAAGTA
ATTGAAGAAGTAAATAAAGTTAAACAAGAAAAGACTGTTTTAAATTCAGAAGTTCTTGAACAGAGAAAAGTCTTAGAAAAATGCAATAGAGTGTCCATGTTAGCT
GTAGAAGAGTATGAGGAGATGCAAGTAAACCTGGAGCTGGAGAAGGACCTTCGAAAGAAAGCAGAGTCATTTGCACAAGAGATGTTCATTGAGCAAAACAAGCTA
AAGAGACAAAGCCACCTTCTGCTGCAGAGCTCCATCCCTGATCAGCAGCTTTTGAAAGCTTTAGACGAAAATGCAAAACTCACCCAGCAACTTGAAGAAGAGAGA
ATTCAGCATCAACAAAAGGTCAAAGAATTAGAAGAGCAACTAGAAAATGAAACACTCCACAAAGAAATACACAACCTCAAACAGCAACTGGAGCTTCTAGAGGAA
GATAAAAAGGAATTGGAATTGAAATATCAGAATTCTGAAGAGAAAGCCAGAAATTTAAAGCACTCTGTTGATGAACTCCAGAAACGAGTGAACCAGTCTGAGAAT
TCAGTACCTCCACCACCTCCTCCTCCACCACCACTTCCCCCTCCACCTCCCAATCCTATCCGATCCCTCATGTCCATGATCCGGAAACGATCCCACCCCAGTGGC
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>KIAA1598|57698|protein
MNSSDEEKQLQLITSLKEQAIGEYEDLRAENQKTKEKCDKIRQERDEAVKKLEEFQKISHMVIEEVNFMQNHLEIEKTCRESAEALATKLNKENKTLKRISMLYM
AKLGPDVITEEINIDDEDSTTDTDGAAETCVSVQCQKQIKELRDQIVSVQEEKKILAIELENLKSKLVEVIEEVNKVKQEKTVLNSEVLEQRKVLEKCNRVSMLA
VEEYEEMQVNLELEKDLRKKAESFAQEMFIEQNKLKRQSHLLLQSSIPDQQLLKALDENAKLTQQLEEERIQHQQKVKELEEQLENETLHKEIHNLKQQLELLEE
DKKELELKYQNSEEKARNLKHSVDELQKRVNQSENSVPPPPPPPPPLPPPPPNPIRSLMSMIRKRSHPSGSGAKKEKATQPETTEEVTDLKRQAVEEMMDRIKKG
VHLRPVNQTARPKTKPESSKGCESAVDELKGILGTLNKSTSSRSLKSLDPENSETELERILRRRKVTAEADSSSPTGILATSESKSMPVLGSVSSVTKTALNKKT
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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 (0) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 0 (1)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top