Evidence Details for KRT81
Basic Information Top
Gene Symbol: | KRT81 ( HB1,Hb-1,KRTHB1,MLN137,ghHkb1,hHAKB2-1 ) |
---|---|
Gene Full Name: | keratin 81 |
Band: | 12q13.13 |
Quick Links | Entrez ID:3887; OMIM: 602153; Uniprot ID:KRT81_HUMAN; ENSEMBL ID: ENSG00000205426; HGNC ID: 6458 |
Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>KRT81|3887|nucleotide
ATGACCTGCGGATCAGGATTTGGTGGGCGCGCCTTCAGCTGCATCTCGGCCTGCGGGCCGCGGCCCGGCCGCTGCTGCATCACCGCCGCCCCCTACCGTGGCATC
TCCTGCTACCGCGGCCTCACCGGGGGCTTCGGCAGCCACAGCGTGTGCGGAGGCTTTCGGGCCGGCTCCTGCGGACGCAGCTTCGGCTACCGCTCCGGGGGCGTG
TGCGGGCCCAGTCCCCCATGCATCACCACCGTGTCGGTCAACGAGAGCCTCCTCACGCCCCTCAACCTGGAGATCGACCCCAACGCGCAGTGCGTGAAGCAGGAG
GAGAAGGAGCAGATCAAGTCCCTCAACAGCAGGTTCGCGGCCTTCATCGACAAGGTGCGCTTCCTGGAGCAGCAGAACAAACTGCTGGAGACAAAGCTGCAGTTC
TACCAGAACCGCGAGTGTTGCCAGAGCAACCTGGAGCCCCTGTTTGAGGGCTACATCGAGACTCTGCGGCGGGAGGCCGAGTGCGTGGAGGCCGACAGCGGGAGG
CTGGCCTCAGAGCTTAACCACGTGCAGGAGGTGCTGGAGGGCTACAAGAAGAAGTATGAGGAGGAGGTTTCTCTGAGAGCAACAGCTGAGAACGAGTTTGTGGCT
CTGAAGAAGGATGTGGACTGCGCCTACCTCCGCAAGTCAGACCTGGAGGCCAACGTGGAGGCCCTGATCCAGGAGATCGACTTCCTGAGGCGGCTGTATGAGGAG
GAGATCCTCATTCTCCAGTCGCACATCTCAGACACCTCCGTGGTTGTCAAGCTGGACAACAGCCGGGACCTGAACATGGACTGCATCATTGCCGAGATTAAGGCA
CAGTATGACGACATTGTCACCCGCAGCCGGGCCGAGGCCGAGTCCTGGTACCGCAGCAAGTGTGAGGAGATGAAGGCCACGGTGATCAGGCACGGGGAGACCCTG
CGCCGCACCAAGGAGGAGATCAATGAGCTGAACCGCATGATCCAAAGGCTGACGGCCGAGGTGGAGAATGCCAAGTGCCAGAACTCCAAGCTGGAGGCCGCGGTG
GCCCAGTCTGAGCAGCAGGGTGAGGCGGCCCTCAGTGATGCCCGCTGCAAGCTGGCCGAGCTGGAGGGCGCCCTGCAGAAGGCCAAGCAGGACATGGCCTGCCTG
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ATGACCTGCGGATCAGGATTTGGTGGGCGCGCCTTCAGCTGCATCTCGGCCTGCGGGCCGCGGCCCGGCCGCTGCTGCATCACCGCCGCCCCCTACCGTGGCATC
TCCTGCTACCGCGGCCTCACCGGGGGCTTCGGCAGCCACAGCGTGTGCGGAGGCTTTCGGGCCGGCTCCTGCGGACGCAGCTTCGGCTACCGCTCCGGGGGCGTG
TGCGGGCCCAGTCCCCCATGCATCACCACCGTGTCGGTCAACGAGAGCCTCCTCACGCCCCTCAACCTGGAGATCGACCCCAACGCGCAGTGCGTGAAGCAGGAG
GAGAAGGAGCAGATCAAGTCCCTCAACAGCAGGTTCGCGGCCTTCATCGACAAGGTGCGCTTCCTGGAGCAGCAGAACAAACTGCTGGAGACAAAGCTGCAGTTC
TACCAGAACCGCGAGTGTTGCCAGAGCAACCTGGAGCCCCTGTTTGAGGGCTACATCGAGACTCTGCGGCGGGAGGCCGAGTGCGTGGAGGCCGACAGCGGGAGG
CTGGCCTCAGAGCTTAACCACGTGCAGGAGGTGCTGGAGGGCTACAAGAAGAAGTATGAGGAGGAGGTTTCTCTGAGAGCAACAGCTGAGAACGAGTTTGTGGCT
CTGAAGAAGGATGTGGACTGCGCCTACCTCCGCAAGTCAGACCTGGAGGCCAACGTGGAGGCCCTGATCCAGGAGATCGACTTCCTGAGGCGGCTGTATGAGGAG
GAGATCCTCATTCTCCAGTCGCACATCTCAGACACCTCCGTGGTTGTCAAGCTGGACAACAGCCGGGACCTGAACATGGACTGCATCATTGCCGAGATTAAGGCA
CAGTATGACGACATTGTCACCCGCAGCCGGGCCGAGGCCGAGTCCTGGTACCGCAGCAAGTGTGAGGAGATGAAGGCCACGGTGATCAGGCACGGGGAGACCCTG
CGCCGCACCAAGGAGGAGATCAATGAGCTGAACCGCATGATCCAAAGGCTGACGGCCGAGGTGGAGAATGCCAAGTGCCAGAACTCCAAGCTGGAGGCCGCGGTG
GCCCAGTCTGAGCAGCAGGGTGAGGCGGCCCTCAGTGATGCCCGCTGCAAGCTGGCCGAGCTGGAGGGCGCCCTGCAGAAGGCCAAGCAGGACATGGCCTGCCTG
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>KRT81|3887|protein
MTCGSGFGGRAFSCISACGPRPGRCCITAAPYRGISCYRGLTGGFGSHSVCGGFRAGSCGRSFGYRSGGVCGPSPPCITTVSVNESLLTPLNLEIDPNAQCVKQE
EKEQIKSLNSRFAAFIDKVRFLEQQNKLLETKLQFYQNRECCQSNLEPLFEGYIETLRREAECVEADSGRLASELNHVQEVLEGYKKKYEEEVSLRATAENEFVA
LKKDVDCAYLRKSDLEANVEALIQEIDFLRRLYEEEILILQSHISDTSVVVKLDNSRDLNMDCIIAEIKAQYDDIVTRSRAEAESWYRSKCEEMKATVIRHGETL
RRTKEEINELNRMIQRLTAEVENAKCQNSKLEAAVAQSEQQGEAALSDARCKLAELEGALQKAKQDMACLIREYQEVMNSKLGLDIEIATYRRLLEGEEQRLCEG
IGAVNVCVSSSRGGVVCGDLCVSGSRPVTGSVCSAPCNGNVAVSTGLCAPCGQLNTTCGGGSCGVGSCGISSLGVGSCGSSCRKC
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MTCGSGFGGRAFSCISACGPRPGRCCITAAPYRGISCYRGLTGGFGSHSVCGGFRAGSCGRSFGYRSGGVCGPSPPCITTVSVNESLLTPLNLEIDPNAQCVKQE
EKEQIKSLNSRFAAFIDKVRFLEQQNKLLETKLQFYQNRECCQSNLEPLFEGYIETLRREAECVEADSGRLASELNHVQEVLEGYKKKYEEEVSLRATAENEFVA
LKKDVDCAYLRKSDLEANVEALIQEIDFLRRLYEEEILILQSHISDTSVVVKLDNSRDLNMDCIIAEIKAQYDDIVTRSRAEAESWYRSKCEEMKATVIRHGETL
RRTKEEINELNRMIQRLTAEVENAKCQNSKLEAAVAQSEQQGEAALSDARCKLAELEGALQKAKQDMACLIREYQEVMNSKLGLDIEIATYRRLLEGEEQRLCEG
IGAVNVCVSSSRGGVVCGDLCVSGSRPVTGSVCSAPCNGNVAVSTGLCAPCGQLNTTCGGGSCGVGSCGISSLGVGSCGSSCRKC
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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) | 1 (3) | 1 (1) | 0 (0) | 0 (0) | 1 (1) | 0 (0) | 0 (0) | 0 (0) | 14 (5) |
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 microarray | ASD | 1491 | - | - | - | - | - | 0 | ||
Bucan, 2009 | USA | SNP microarray | autism, ASD | 912 | - | 912 | - | - | 1488 | 1488 | ||
Pinto, 2010 | - | SNP microarray, qPCR | ASD | - | - | - | - | 996 | 1287 | 2283 |
Linkage Studies Top
Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
---|---|---|---|---|---|---|---|---|---|---|---|---|
Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
Spence, 2006 | USA | microsatellite-based genomic screen | ASD | 133 | - | 133 | - | 280 | - | - |
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 |
---|---|---|---|---|
De Rubeis S, 2014 | 2270 | - | 1702 | Synaptic, transcriptional and chromatin genes disrupted in autism |
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top
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