Evidence Details for KRT75
Basic Information Top
Gene Symbol: | KRT75 ( K6HF,KB18,PFB ) |
---|---|
Gene Full Name: | keratin 75 |
Band: | 12q13.13 |
Quick Links | Entrez ID:9119; OMIM: 609025; Uniprot ID:K2C75_HUMAN; ENSEMBL ID: ENSG00000170454; HGNC ID: 24431 |
Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>KRT75|9119|nucleotide
ATGTCTCGGCAGTCCTCCATCACCTTCCAGTCTGGCAGCCGCAGGGGCTTCAGCACCACCTCGGCCATCACCCCGGCAGCTGGCCGCTCCCGCTTCAGCTCTGTC
TCTGTGGCCCGCTCTGCAGCAGGGAGTGGGGGCCTGGGAAGGATCAGCAGTGCTGGGGCCAGCTTTGGAAGCCGCAGCCTCTACAACCTGGGGGGTGCCAAGCGG
GTCTCCATCAATGGGTGTGGCAGCAGCTGCCGAAGTGGCTTTGGTGGCAGGGCCAGCAACAGGTTTGGAGTCAACAGTGGATTTGGCTATGGGGGTGGAGTTGGA
GGAGGCTTCAGTGGCCCCAGCTTCCCCGTGTGTCCCCCTGGAGGCATCCAAGAGGTCACTGTCAACCAGAGTCTCCTGACTCCTCTTCACCTGCAAATCGACCCC
ACCATCCAGCGGGTGCGGGCCGAGGAGCGCGAGCAGATCAAGACCCTCAACAATAAGTTCGCCTCCTTCATCGACAAGGTGAGGTTCTTGGAGCAGCAGAACAAG
GTCCTGGAGACCAAGTGGGCCCTCCTGCAGGAGCAGGGCTCCAGGACTGTGAGGCAGAACCTAGAGCCCCTCTTTGATTCCTATACCAGTGAGCTCCGACGGCAG
CTGGAAAGCATCACCACCGAGAGGGGCAGGCTTGAAGCTGAACTGAGGAACATGCAGGATGTTGTGGAAGATTTCAAAGTCAGGTACGAAGATGAAATTAACAAG
CGCACAGCTGCTGAGAATGAATTTGTAGCCCTGAAAAAGGACGTAGATGCTGCCTATATGAACAAGGTGGAGCTGGAAGCCAAGGTCAAATCTCTGCCCGAGGAG
ATCAACTTCATCCACTCAGTCTTTGATGCAGAGCTGTCCCAGTTGCAGACCCAGGTCGGTGACACATCCGTGGTGCTGTCCATGGACAACAACCGCAACCTGGAC
CTGGATAGTATCATCGCCGAGGTCAAAGCACAATACGAGGACATTGCCAACCGCAGCCGGGCCGAGGCTGAGTCCTGGTACCAGACCAAGTACGAGGAGCTGCAG
GTCACCGCAGGCAGACATGGGGATGACCTTCGAAACACCAAACAAGAGATCTCTGAAATGAACCGCATGATCCAGAGGCTGAGAGCTGAGATTGACAGCGTCAAG
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ATGTCTCGGCAGTCCTCCATCACCTTCCAGTCTGGCAGCCGCAGGGGCTTCAGCACCACCTCGGCCATCACCCCGGCAGCTGGCCGCTCCCGCTTCAGCTCTGTC
TCTGTGGCCCGCTCTGCAGCAGGGAGTGGGGGCCTGGGAAGGATCAGCAGTGCTGGGGCCAGCTTTGGAAGCCGCAGCCTCTACAACCTGGGGGGTGCCAAGCGG
GTCTCCATCAATGGGTGTGGCAGCAGCTGCCGAAGTGGCTTTGGTGGCAGGGCCAGCAACAGGTTTGGAGTCAACAGTGGATTTGGCTATGGGGGTGGAGTTGGA
GGAGGCTTCAGTGGCCCCAGCTTCCCCGTGTGTCCCCCTGGAGGCATCCAAGAGGTCACTGTCAACCAGAGTCTCCTGACTCCTCTTCACCTGCAAATCGACCCC
ACCATCCAGCGGGTGCGGGCCGAGGAGCGCGAGCAGATCAAGACCCTCAACAATAAGTTCGCCTCCTTCATCGACAAGGTGAGGTTCTTGGAGCAGCAGAACAAG
GTCCTGGAGACCAAGTGGGCCCTCCTGCAGGAGCAGGGCTCCAGGACTGTGAGGCAGAACCTAGAGCCCCTCTTTGATTCCTATACCAGTGAGCTCCGACGGCAG
CTGGAAAGCATCACCACCGAGAGGGGCAGGCTTGAAGCTGAACTGAGGAACATGCAGGATGTTGTGGAAGATTTCAAAGTCAGGTACGAAGATGAAATTAACAAG
CGCACAGCTGCTGAGAATGAATTTGTAGCCCTGAAAAAGGACGTAGATGCTGCCTATATGAACAAGGTGGAGCTGGAAGCCAAGGTCAAATCTCTGCCCGAGGAG
ATCAACTTCATCCACTCAGTCTTTGATGCAGAGCTGTCCCAGTTGCAGACCCAGGTCGGTGACACATCCGTGGTGCTGTCCATGGACAACAACCGCAACCTGGAC
CTGGATAGTATCATCGCCGAGGTCAAAGCACAATACGAGGACATTGCCAACCGCAGCCGGGCCGAGGCTGAGTCCTGGTACCAGACCAAGTACGAGGAGCTGCAG
GTCACCGCAGGCAGACATGGGGATGACCTTCGAAACACCAAACAAGAGATCTCTGAAATGAACCGCATGATCCAGAGGCTGAGAGCTGAGATTGACAGCGTCAAG
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>KRT75|9119|protein
MSRQSSITFQSGSRRGFSTTSAITPAAGRSRFSSVSVARSAAGSGGLGRISSAGASFGSRSLYNLGGAKRVSINGCGSSCRSGFGGRASNRFGVNSGFGYGGGVG
GGFSGPSFPVCPPGGIQEVTVNQSLLTPLHLQIDPTIQRVRAEEREQIKTLNNKFASFIDKVRFLEQQNKVLETKWALLQEQGSRTVRQNLEPLFDSYTSELRRQ
LESITTERGRLEAELRNMQDVVEDFKVRYEDEINKRTAAENEFVALKKDVDAAYMNKVELEAKVKSLPEEINFIHSVFDAELSQLQTQVGDTSVVLSMDNNRNLD
LDSIIAEVKAQYEDIANRSRAEAESWYQTKYEELQVTAGRHGDDLRNTKQEISEMNRMIQRLRAEIDSVKKQCSSLQTAIADAEQRGELALKDARAKLVDLEEAL
QKAKQDMARLLREYQELMNIKLALDVEIATYRKLLEGEECRLSGEGVSPVNISVVTSTLSSGYGSGSSIGGGNLGLGGGSGYSFTTSGGHSLGAGLGGSGFSATS
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MSRQSSITFQSGSRRGFSTTSAITPAAGRSRFSSVSVARSAAGSGGLGRISSAGASFGSRSLYNLGGAKRVSINGCGSSCRSGFGGRASNRFGVNSGFGYGGGVG
GGFSGPSFPVCPPGGIQEVTVNQSLLTPLHLQIDPTIQRVRAEEREQIKTLNNKFASFIDKVRFLEQQNKVLETKWALLQEQGSRTVRQNLEPLFDSYTSELRRQ
LESITTERGRLEAELRNMQDVVEDFKVRYEDEINKRTAAENEFVALKKDVDAAYMNKVELEAKVKSLPEEINFIHSVFDAELSQLQTQVGDTSVVLSMDNNRNLD
LDSIIAEVKAQYEDIANRSRAEAESWYQTKYEELQVTAGRHGDDLRNTKQEISEMNRMIQRLRAEIDSVKKQCSSLQTAIADAEQRGELALKDARAKLVDLEEAL
QKAKQDMARLLREYQELMNIKLALDVEIATYRKLLEGEECRLSGEGVSPVNISVVTSTLSSGYGSGSSIGGGNLGLGGGSGYSFTTSGGHSLGAGLGGSGFSATS
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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 (1) | 0 (1) | 1 (1) | 0 (0) | 1 (1) | 1 (1) | 0 (0) | 0 (0) | 0 (0) | 13 (5) |
Syndromic Autism Gene Top
Genome-Wide Association Studies (By Ethnic Group) Top
Family Based Association Studies: 1
Reference | Stage | Platform | #Families | Affecteds | Result | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|
#Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ (range) |
||||||
CAUCASIAN | |||||||||||
Hussman, 2011_1 | Discovery | Illumina Infinium Human 1 M beadship | 597 | - (-) | ASD | - - |
- - |
Case Control Based Association Studies: 0
Reference | Stage | Platform | ASD Cases | Normal Controls | Result | |||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|
#Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ | #Subjects (% Women) |
Age (range) |
|||||
No Evidence. |
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 |
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
Microarray Studies: 0
Reference | Source | Tissue | #Subjects (% Women) |
ADI-R | ADOS | Endo- pheno | Diagnosis | Normal Controls (% Women) |
Fold Change | Up/ Down | P/Q value | |
---|---|---|---|---|---|---|---|---|---|---|---|---|
No Evidence. |
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 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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