Evidence Details for KIAA1755
Basic Information Top
Gene Symbol: | KIAA1755 ( - ) |
---|---|
Gene Full Name: | KIAA1755 |
Band: | 20q11.23 |
Quick Links | Entrez ID:85449; OMIM: NA; Uniprot ID:K1755_HUMAN; ENSEMBL ID: ENSG00000149633; HGNC ID: 29372 |
Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>KIAA1755|85449|nucleotide
ATGGACCCTCCATCCCTCGACACAGCCATCCAGCATGCCCTGGCGGGCCTCTATCCTCCTTTCGAGGCCACAGCACCCACCGTCCTGGGTCAGGTGTTCCGTCTC
CTGGACTCTGGCTTCCAGGGGGATGGGCTGAGCTTCCTTCTGGATTTCCTGATCCCTGCCAAGCGCCTGTGTGAGCAAGTGCGAGAAGCAGCCTGTGCTCCCTAC
TCACACTGCCTCTTCTTACACGAGGGCTGGCCACTCTGTCTGAGGGATGAAGTTGTGGTCCACTTGGCACCCCTCAACCCTCTCTTATTGCGCCAGGGTGACTTC
TACCTCCAAGTGGAGCCCCAGGAGGAGCAGTCTGTCTGCATCATGATCAAATGCCTCTCCCTGGACCTCTGCACAGTGGACAAGAAGCCTGTTCCAGAGCCAGCC
TACCCTATACTTTTCACCCAAGAATGGCTGGAGGCCATCAACAGTGACTTTGAGGGAAATCCCCTACACAACTGCTTGGTAGCATCAGAAAATGGGATTGCCCCT
GTGCCTTGGACCAAGATAACCAGCCCAGAGTTTGTGGATGACAGACCCCAAGTAGTGAATGCCCTCTGCCAAGCCTGGGGGCCCCTTCCATTAGAGGCACTGGAT
TTGAGCAGCCCTCAAGAGTTGCACCAGGCCAGCTCCCCAGACAACCAGGTGCTTCCTGCCCAGAGTTTGGCCAAGGGTAAGGGCAGGACATATGGGAGCAAGTAT
CCAGGACTCATCAAGGTGGAGCAAGCCCGGTGTGGGGAGGTGGCTTTCAGGATGGACGAGGTGGTCAGCCAGGACTTCGAGGGAGACTATGTGGCTCTCCTAGGC
TTTTCCCAAGAGAGCAGAGGAGAGTCTCCCAGTAGGGAGGCAGGCACATCCAGTGGGTGTACTTCTGGGGCACTAGAGGAGATAGCTGGAACTAAGGAAACTCCC
TTATTTCAAAAGATACTGCCTCTCTCAGAGGCCAATGAAGGACCTTCCTTGGGAAATCGGGCTTGCACAAAGCCAGAAAGCTCTGAGGAGAGGCCCTATAATTTG
GGCTTCAGGAGAAAGGTCAATCTTAAAGCACCCACCCACAACTCAGAAAGGCCGCCCCAAGGCTCCTACATGAATGTCCTTGAGGACGCACTGGACTGTGCCTCT
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ATGGACCCTCCATCCCTCGACACAGCCATCCAGCATGCCCTGGCGGGCCTCTATCCTCCTTTCGAGGCCACAGCACCCACCGTCCTGGGTCAGGTGTTCCGTCTC
CTGGACTCTGGCTTCCAGGGGGATGGGCTGAGCTTCCTTCTGGATTTCCTGATCCCTGCCAAGCGCCTGTGTGAGCAAGTGCGAGAAGCAGCCTGTGCTCCCTAC
TCACACTGCCTCTTCTTACACGAGGGCTGGCCACTCTGTCTGAGGGATGAAGTTGTGGTCCACTTGGCACCCCTCAACCCTCTCTTATTGCGCCAGGGTGACTTC
TACCTCCAAGTGGAGCCCCAGGAGGAGCAGTCTGTCTGCATCATGATCAAATGCCTCTCCCTGGACCTCTGCACAGTGGACAAGAAGCCTGTTCCAGAGCCAGCC
TACCCTATACTTTTCACCCAAGAATGGCTGGAGGCCATCAACAGTGACTTTGAGGGAAATCCCCTACACAACTGCTTGGTAGCATCAGAAAATGGGATTGCCCCT
GTGCCTTGGACCAAGATAACCAGCCCAGAGTTTGTGGATGACAGACCCCAAGTAGTGAATGCCCTCTGCCAAGCCTGGGGGCCCCTTCCATTAGAGGCACTGGAT
TTGAGCAGCCCTCAAGAGTTGCACCAGGCCAGCTCCCCAGACAACCAGGTGCTTCCTGCCCAGAGTTTGGCCAAGGGTAAGGGCAGGACATATGGGAGCAAGTAT
CCAGGACTCATCAAGGTGGAGCAAGCCCGGTGTGGGGAGGTGGCTTTCAGGATGGACGAGGTGGTCAGCCAGGACTTCGAGGGAGACTATGTGGCTCTCCTAGGC
TTTTCCCAAGAGAGCAGAGGAGAGTCTCCCAGTAGGGAGGCAGGCACATCCAGTGGGTGTACTTCTGGGGCACTAGAGGAGATAGCTGGAACTAAGGAAACTCCC
TTATTTCAAAAGATACTGCCTCTCTCAGAGGCCAATGAAGGACCTTCCTTGGGAAATCGGGCTTGCACAAAGCCAGAAAGCTCTGAGGAGAGGCCCTATAATTTG
GGCTTCAGGAGAAAGGTCAATCTTAAAGCACCCACCCACAACTCAGAAAGGCCGCCCCAAGGCTCCTACATGAATGTCCTTGAGGACGCACTGGACTGTGCCTCT
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>KIAA1755|85449|protein
MDPPSLDTAIQHALAGLYPPFEATAPTVLGQVFRLLDSGFQGDGLSFLLDFLIPAKRLCEQVREAACAPYSHCLFLHEGWPLCLRDEVVVHLAPLNPLLLRQGDF
YLQVEPQEEQSVCIMIKCLSLDLCTVDKKPVPEPAYPILFTQEWLEAINSDFEGNPLHNCLVASENGIAPVPWTKITSPEFVDDRPQVVNALCQAWGPLPLEALD
LSSPQELHQASSPDNQVLPAQSLAKGKGRTYGSKYPGLIKVEQARCGEVAFRMDEVVSQDFEGDYVALLGFSQESRGESPSREAGTSSGCTSGALEEIAGTKETP
LFQKILPLSEANEGPSLGNRACTKPESSEERPYNLGFRRKVNLKAPTHNSERPPQGSYMNVLEDALDCASGLRAGVSQEPAASKMQGPLGNPENMVQLRPGPRQA
SSPRLSPASPAAAASETKIEVKTKERNGRLPKPMPCPSRNTSSPEPPTPGLKFSFLRGQRQPSVTPEKASLQHNGPWKVLCSLYSPKPNRAKSLGKAGTTQTKTS
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MDPPSLDTAIQHALAGLYPPFEATAPTVLGQVFRLLDSGFQGDGLSFLLDFLIPAKRLCEQVREAACAPYSHCLFLHEGWPLCLRDEVVVHLAPLNPLLLRQGDF
YLQVEPQEEQSVCIMIKCLSLDLCTVDKKPVPEPAYPILFTQEWLEAINSDFEGNPLHNCLVASENGIAPVPWTKITSPEFVDDRPQVVNALCQAWGPLPLEALD
LSSPQELHQASSPDNQVLPAQSLAKGKGRTYGSKYPGLIKVEQARCGEVAFRMDEVVSQDFEGDYVALLGFSQESRGESPSREAGTSSGCTSGALEEIAGTKETP
LFQKILPLSEANEGPSLGNRACTKPESSEERPYNLGFRRKVNLKAPTHNSERPPQGSYMNVLEDALDCASGLRAGVSQEPAASKMQGPLGNPENMVQLRPGPRQA
SSPRLSPASPAAAASETKIEVKTKERNGRLPKPMPCPSRNTSSPEPPTPGLKFSFLRGQRQPSVTPEKASLQHNGPWKVLCSLYSPKPNRAKSLGKAGTTQTKTS
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Evidence summary Top
Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
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) | 1 (1) | 0 (0) | 0 (0) | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 2 (2) |
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top
Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
---|---|---|---|---|---|---|---|---|---|---|---|---|
Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
Allen-Brady, 2008 | - | SNP-based genomic screen | ASD | 1 | - | 1 | - | 7 | 22 | 29 |
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
Reference | Case Number | Family Number | de novo Number | Title |
---|---|---|---|---|
Krumm N, 2015 | 2377 | 1373 | 77 | Excess of rare, inherited truncating mutations in autism |
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top
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