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 TopClick 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 TopGenome-Wide Association Studies(By Ethnic Group) TopCNV 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