Evidence Details for KRT1
Basic Information Top
| Gene Symbol: | KRT1 ( CK1,EHK,EHK1,EPPK,K1,KRT1A,NEPPK ) |
|---|---|
| Gene Full Name: | keratin 1 |
| Band: | 12q13.13 |
| Quick Links | Entrez ID:3848; OMIM: 139350; Uniprot ID:K2C1_HUMAN; ENSEMBL ID: ENSG00000167768; HGNC ID: 6412 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>KRT1|3848|nucleotide
ATGAGTCGACAGTTTAGTTCCAGGTCTGGGTACCGAAGTGGAGGGGGCTTCAGCTCTGGCTCTGCTGGGATCATCAACTACCAGCGCAGGACCACCAGCAGCTCC
ACACGCCGCAGTGGAGGAGGTGGTGGGAGATTTTCAAGCTGTGGTGGTGGTGGTGGTAGCTTTGGTGCTGGTGGTGGATTTGGAAGTCGGAGTCTTGTTAACCTT
GGTGGCAGTAAAAGCATCTCCATAAGTGTGGCTAGAGGAGGTGGACGTGGTAGTGGCTTTGGTGGTGGTTATGGTGGTGGTGGCTTTGGTGGTGGTGGCTTTGGT
GGTGGTGGCTTTGGTGGAGGTGGCATTGGGGGTGGTGGCTTTGGTGGTTTTGGCAGTGGTGGTGGTGGTTTTGGTGGAGGTGGCTTTGGGGGTGGTGGATATGGG
GGTGGTTATGGTCCTGTCTGCCCTCCTGGTGGCATACAAGAAGTCACTATCAACCAGAGCCTTCTTCAGCCCCTCAATGTGGAGATTGACCCTGAGATCCAAAAG
GTGAAGTCTCGAGAAAGGGAGCAAATCAAGTCACTCAACAACCAATTTGCCTCCTTCATTGACAAGGTGAGGTTCCTGGAGCAGCAGAACCAGGTACTGCAAACA
AAATGGGAGCTGCTGCAGCAGGTAGATACCTCCACTAGAACCCATAATTTAGAGCCCTACTTTGAGTCATTCATCAACAATCTCCGAAGGAGAGTGGACCAACTG
AAGAGTGATCAATCTCGGTTGGATTCGGAACTGAAGAACATGCAGGACATGGTGGAGGATTACCGGAACAAGTATGAGGATGAAATCAACAAGCGGACAAATGCA
GAGAATGAATTTGTGACCATCAAGAAGGATGTGGATGGTGCTTATATGACCAAGGTGGACCTTCAGGCCAAACTTGACAACTTGCAGCAGGAAATTGATTTCCTT
ACAGCACTCTACCAAGCAGAGTTGTCTCAGATGCAGACTCAAATCAGTGAAACTAATGTCATCCTCTCTATGGACAACAACCGCAGTCTCGACCTGGACAGCATC
ATTGCTGAGGTCAAGGCCCAGTACGAGGATATAGCCCAGAAGAGCAAAGCTGAGGCCGAGTCCTTGTACCAGAGCAAGTATGAAGAGCTGCAGATCACTGCTGGC
Show »
ATGAGTCGACAGTTTAGTTCCAGGTCTGGGTACCGAAGTGGAGGGGGCTTCAGCTCTGGCTCTGCTGGGATCATCAACTACCAGCGCAGGACCACCAGCAGCTCC
ACACGCCGCAGTGGAGGAGGTGGTGGGAGATTTTCAAGCTGTGGTGGTGGTGGTGGTAGCTTTGGTGCTGGTGGTGGATTTGGAAGTCGGAGTCTTGTTAACCTT
GGTGGCAGTAAAAGCATCTCCATAAGTGTGGCTAGAGGAGGTGGACGTGGTAGTGGCTTTGGTGGTGGTTATGGTGGTGGTGGCTTTGGTGGTGGTGGCTTTGGT
GGTGGTGGCTTTGGTGGAGGTGGCATTGGGGGTGGTGGCTTTGGTGGTTTTGGCAGTGGTGGTGGTGGTTTTGGTGGAGGTGGCTTTGGGGGTGGTGGATATGGG
GGTGGTTATGGTCCTGTCTGCCCTCCTGGTGGCATACAAGAAGTCACTATCAACCAGAGCCTTCTTCAGCCCCTCAATGTGGAGATTGACCCTGAGATCCAAAAG
GTGAAGTCTCGAGAAAGGGAGCAAATCAAGTCACTCAACAACCAATTTGCCTCCTTCATTGACAAGGTGAGGTTCCTGGAGCAGCAGAACCAGGTACTGCAAACA
AAATGGGAGCTGCTGCAGCAGGTAGATACCTCCACTAGAACCCATAATTTAGAGCCCTACTTTGAGTCATTCATCAACAATCTCCGAAGGAGAGTGGACCAACTG
AAGAGTGATCAATCTCGGTTGGATTCGGAACTGAAGAACATGCAGGACATGGTGGAGGATTACCGGAACAAGTATGAGGATGAAATCAACAAGCGGACAAATGCA
GAGAATGAATTTGTGACCATCAAGAAGGATGTGGATGGTGCTTATATGACCAAGGTGGACCTTCAGGCCAAACTTGACAACTTGCAGCAGGAAATTGATTTCCTT
ACAGCACTCTACCAAGCAGAGTTGTCTCAGATGCAGACTCAAATCAGTGAAACTAATGTCATCCTCTCTATGGACAACAACCGCAGTCTCGACCTGGACAGCATC
ATTGCTGAGGTCAAGGCCCAGTACGAGGATATAGCCCAGAAGAGCAAAGCTGAGGCCGAGTCCTTGTACCAGAGCAAGTATGAAGAGCTGCAGATCACTGCTGGC
Show »
>KRT1|3848|protein
MSRQFSSRSGYRSGGGFSSGSAGIINYQRRTTSSSTRRSGGGGGRFSSCGGGGGSFGAGGGFGSRSLVNLGGSKSISISVARGGGRGSGFGGGYGGGGFGGGGFG
GGGFGGGGIGGGGFGGFGSGGGGFGGGGFGGGGYGGGYGPVCPPGGIQEVTINQSLLQPLNVEIDPEIQKVKSREREQIKSLNNQFASFIDKVRFLEQQNQVLQT
KWELLQQVDTSTRTHNLEPYFESFINNLRRRVDQLKSDQSRLDSELKNMQDMVEDYRNKYEDEINKRTNAENEFVTIKKDVDGAYMTKVDLQAKLDNLQQEIDFL
TALYQAELSQMQTQISETNVILSMDNNRSLDLDSIIAEVKAQYEDIAQKSKAEAESLYQSKYEELQITAGRHGDSVRNSKIEISELNRVIQRLRSEIDNVKKQIS
NLQQSISDAEQRGENALKDAKNKLNDLEDALQQAKEDLARLLRDYQELMNTKLALDLEIATYRTLLEGEESRMSGECAPNVSVSVSTSHTTISGGGSRGGGGGGY
Show »
MSRQFSSRSGYRSGGGFSSGSAGIINYQRRTTSSSTRRSGGGGGRFSSCGGGGGSFGAGGGFGSRSLVNLGGSKSISISVARGGGRGSGFGGGYGGGGFGGGGFG
GGGFGGGGIGGGGFGGFGSGGGGFGGGGFGGGGYGGGYGPVCPPGGIQEVTINQSLLQPLNVEIDPEIQKVKSREREQIKSLNNQFASFIDKVRFLEQQNQVLQT
KWELLQQVDTSTRTHNLEPYFESFINNLRRRVDQLKSDQSRLDSELKNMQDMVEDYRNKYEDEINKRTNAENEFVTIKKDVDGAYMTKVDLQAKLDNLQQEIDFL
TALYQAELSQMQTQISETNVILSMDNNRSLDLDSIIAEVKAQYEDIAQKSKAEAESLYQSKYEELQITAGRHGDSVRNSKIEISELNRVIQRLRSEIDNVKKQIS
NLQQSISDAEQRGENALKDAKNKLNDLEDALQQAKEDLARLLRDYQELMNTKLALDLEIATYRTLLEGEESRMSGECAPNVSVSVSTSHTTISGGGSRGGGGGGY
Show »
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) | 0 (1) | 1 (1) | 0 (0) | 2 (2) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 4 (4) |
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 |
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) TopLarge Scale Expression Studies Top Microarray Studies: 1
| Reference | Source | Tissue | #Subjects (% Women) |
ADI-R | ADOS | Endo- pheno | Diagnosis | Normal Controls (% Women) |
Fold Change | Up/ Down | P/Q value | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Kuwano, 2011_2 | Japan | Mother with ASD children | 21 (100.00%) | - | - | - | - | 21 (100.00%) |
2.13 | Up | 0.0167 | |
| ||||||||||||
Proteomics Studies:1
| Reference | Source | Tissue | Platform | #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Normal Controls(% Women) | |
|---|---|---|---|---|---|---|---|---|---|
| Corbett, 2007_1 | USA | blood | liquid chromatography-electrospray ionization-mass spectrometry (LC-ESI-MS) | 69 (15.94%) | | | ASD | 35 (17.14%) |
|
NGS de novo Mutation Studies TopNGS Mosaic SNV Studies TopNGS Other Studies Top Low Scale Gene Studies TopContact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.