Evidence Details for ITIH4
Basic Information Top
| Gene Symbol: | ITIH4 ( DKFZp686G21125,H4P,IHRP,ITIHL1,PK120 ) |
|---|---|
| Gene Full Name: | inter-alpha (globulin) inhibitor H4 (plasma Kallikrein-sensitive glycoprotein) |
| Band: | 3p21.1 |
| Quick Links | Entrez ID:3700; OMIM: 600564; Uniprot ID:ITIH4_HUMAN; ENSEMBL ID: ENSG00000055955,ENSG00000243696; HGNC ID: 6169 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>ITIH4|3700|nucleotide
ATGAAGCCCCCAAGGCCTGTCCGTACCTGCAGCAAAGTTCTCGTCCTGCTTTCACTGCTGGCCATCCACCAGACTACTACTGCCGAAAAGAATGGCATCGACATC
TACAGCCTCACCGTGGACTCCAGGGTCTCATCCCGATTTGCCCACACGGTCGTCACCAGCCGAGTGGTCAATAGGGCCAATACTGTGCAGGAGGCCACCTTCCAG
ATGGAGCTGCCCAAGAAAGCCTTCATCACCAACTTCTCCATGATCATCGATGGCATGACCTACCCAGGGATCATCAAGGAGAAGGCTGAAGCCCAGGCACAGTAC
AGCGCAGCAGTGGCCAAGGGAAAGAGCGCTGGCCTCGTCAAGGCCACCGGGAGAAACATGGAGCAGTTCCAGGTGTCGGTCAGTGTGGCTCCCAATGCCAAGATC
ACCTTTGAGCTGGTCTATGAGGAGCTGCTCAAGCGGCGTTTGGGGGTGTACGAGCTGCTGCTGAAAGTGCGGCCCCAGCAGCTGGTCAAGCACCTGCAGATGGAC
ATTCACATCTTCGAGCCCCAGGGCATCAGCTTTCTGGAGACAGAGAGCACCTTCATGACCAACCAGCTGGTAGACGCCCTCACCACCTGGCAGAATAAGACCAAG
GCTCACATCCGGTTCAAGCCAACACTTTCCCAGCAGCAAAAGTCCCCAGAGCAGCAAGAAACAGTCCTGGACGGCAACCTCATTATCCGCTATGATGTGGACCGG
GCCATCTCCGGGGGCTCCATTCAGATCGAGAACGGCTACTTTGTACACTACTTTGCCCCCGAGGGCCTAACCACAATGCCCAAGAATGTGGTCTTTGTCATTGAC
AAGAGCGGCTCCATGAGTGGCAGGAAAATCCAGCAGACCCGGGAAGCCCTAATCAAGATCCTGGATGACCTCAGCCCCAGAGACCAGTTCAACCTCATCGTCTTC
AGTACAGAAGCAACTCAGTGGAGGCCATCACTGGTGCCAGCCTCAGCCGAGAACGTGAACAAGGCCAGGAGCTTTGCTGCGGGCATCCAGGCCCTGGGAGGGACC
AACATCAATGATGCAATGCTGATGGCTGTGCAGTTGCTGGACAGCAGCAACCAGGAGGAGCGGCTGCCCGAAGGGAGTGTCTCACTCATCATCCTGCTCACCGAT
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ATGAAGCCCCCAAGGCCTGTCCGTACCTGCAGCAAAGTTCTCGTCCTGCTTTCACTGCTGGCCATCCACCAGACTACTACTGCCGAAAAGAATGGCATCGACATC
TACAGCCTCACCGTGGACTCCAGGGTCTCATCCCGATTTGCCCACACGGTCGTCACCAGCCGAGTGGTCAATAGGGCCAATACTGTGCAGGAGGCCACCTTCCAG
ATGGAGCTGCCCAAGAAAGCCTTCATCACCAACTTCTCCATGATCATCGATGGCATGACCTACCCAGGGATCATCAAGGAGAAGGCTGAAGCCCAGGCACAGTAC
AGCGCAGCAGTGGCCAAGGGAAAGAGCGCTGGCCTCGTCAAGGCCACCGGGAGAAACATGGAGCAGTTCCAGGTGTCGGTCAGTGTGGCTCCCAATGCCAAGATC
ACCTTTGAGCTGGTCTATGAGGAGCTGCTCAAGCGGCGTTTGGGGGTGTACGAGCTGCTGCTGAAAGTGCGGCCCCAGCAGCTGGTCAAGCACCTGCAGATGGAC
ATTCACATCTTCGAGCCCCAGGGCATCAGCTTTCTGGAGACAGAGAGCACCTTCATGACCAACCAGCTGGTAGACGCCCTCACCACCTGGCAGAATAAGACCAAG
GCTCACATCCGGTTCAAGCCAACACTTTCCCAGCAGCAAAAGTCCCCAGAGCAGCAAGAAACAGTCCTGGACGGCAACCTCATTATCCGCTATGATGTGGACCGG
GCCATCTCCGGGGGCTCCATTCAGATCGAGAACGGCTACTTTGTACACTACTTTGCCCCCGAGGGCCTAACCACAATGCCCAAGAATGTGGTCTTTGTCATTGAC
AAGAGCGGCTCCATGAGTGGCAGGAAAATCCAGCAGACCCGGGAAGCCCTAATCAAGATCCTGGATGACCTCAGCCCCAGAGACCAGTTCAACCTCATCGTCTTC
AGTACAGAAGCAACTCAGTGGAGGCCATCACTGGTGCCAGCCTCAGCCGAGAACGTGAACAAGGCCAGGAGCTTTGCTGCGGGCATCCAGGCCCTGGGAGGGACC
AACATCAATGATGCAATGCTGATGGCTGTGCAGTTGCTGGACAGCAGCAACCAGGAGGAGCGGCTGCCCGAAGGGAGTGTCTCACTCATCATCCTGCTCACCGAT
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>ITIH4|3700|protein
MKPPRPVRTCSKVLVLLSLLAIHQTTTAEKNGIDIYSLTVDSRVSSRFAHTVVTSRVVNRANTVQEATFQMELPKKAFITNFSMIIDGMTYPGIIKEKAEAQAQY
SAAVAKGKSAGLVKATGRNMEQFQVSVSVAPNAKITFELVYEELLKRRLGVYELLLKVRPQQLVKHLQMDIHIFEPQGISFLETESTFMTNQLVDALTTWQNKTK
AHIRFKPTLSQQQKSPEQQETVLDGNLIIRYDVDRAISGGSIQIENGYFVHYFAPEGLTTMPKNVVFVIDKSGSMSGRKIQQTREALIKILDDLSPRDQFNLIVF
STEATQWRPSLVPASAENVNKARSFAAGIQALGGTNINDAMLMAVQLLDSSNQEERLPEGSVSLIILLTDGDPTVGETNPRSIQNNVREAVSGRYSLFCLGFGFD
VSYAFLEKLALDNGGLARRIHEDSDSALQLQDFYQEVANPLLTAVTFEYPSNAVEEVTQNNFRLLFKGSEMVVAGKLQDRGPDVLTATVSGKLPTQNITFQTESS
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MKPPRPVRTCSKVLVLLSLLAIHQTTTAEKNGIDIYSLTVDSRVSSRFAHTVVTSRVVNRANTVQEATFQMELPKKAFITNFSMIIDGMTYPGIIKEKAEAQAQY
SAAVAKGKSAGLVKATGRNMEQFQVSVSVAPNAKITFELVYEELLKRRLGVYELLLKVRPQQLVKHLQMDIHIFEPQGISFLETESTFMTNQLVDALTTWQNKTK
AHIRFKPTLSQQQKSPEQQETVLDGNLIIRYDVDRAISGGSIQIENGYFVHYFAPEGLTTMPKNVVFVIDKSGSMSGRKIQQTREALIKILDDLSPRDQFNLIVF
STEATQWRPSLVPASAENVNKARSFAAGIQALGGTNINDAMLMAVQLLDSSNQEERLPEGSVSLIILLTDGDPTVGETNPRSIQNNVREAVSGRYSLFCLGFGFD
VSYAFLEKLALDNGGLARRIHEDSDSALQLQDFYQEVANPLLTAVTFEYPSNAVEEVTQNNFRLLFKGSEMVVAGKLQDRGPDVLTATVSGKLPTQNITFQTESS
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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) | 0 (0) | 0 (0) | 0 (0) | 1 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 1 (1) |
Syndromic Autism Gene TopGenome-Wide Association Studies(By Ethnic Group) TopCNV Studies TopLinkage Studies TopLow Scale Association Studies (by Ethnic Group) TopLarge 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 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.