Evidence Details for ITIH2
Basic Information Top
| Gene Symbol: | ITIH2 ( H2P,SHAP ) |
|---|---|
| Gene Full Name: | inter-alpha (globulin) inhibitor H2 |
| Band: | 10p14 |
| Quick Links | Entrez ID:3698; OMIM: 146640; Uniprot ID:ITIH2_HUMAN; ENSEMBL ID: ENSG00000151655; HGNC ID: 6167 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>ITIH2|3698|nucleotide
ATGAAAAGACTCACGTGCTTTTTCATCTGCTTCTTTCTTTCTGAAGTATCAGGCTTCGAAATCCCCATAAATGGACTTTCTGAATTTGTAGACTATGAAGATCTT
GTGGAACTGGCCCCAGGCAAATTTCAATTGGTGGCAGAGAACCGGAGATATCAGAGAAGCCTTCCAGGAGAATCGGAAGAAATGATGGAAGAGGTTGATCAAGTA
ACTCTTTATAGCTATAAAGTCCAGTCTACTATTACTTCTCGGATGGCCACCACCATGATCCAGAGCAAAGTGGTGAACAATTCCCCGCAGCCTCAGAATGTCGTG
TTTGATGTTCAGATCCCCAAAGGAGCATTCATTTCCAACTTCTCCATGACTGTGGACGGCAAGACATTTAGGAGCTCTATTAAGGAGAAAACTGTGGGCCGAGCT
CTTTATGCACAGGCCAGAGCAAAAGGCAAGACGGCTGGCTTGGTGAGGAGCAGCGCTCTTGATATGGAAAACTTCAGAACGGAAGTAAATGTCCTCCCAGGAGCA
AAGGTGCAGTTCGAACTTCACTACCAGGAGGTGAAGTGGAGGAAGCTGGGCTCCTATGAGCACAGGATCTATCTGCAACCTGGACGGCTGGCCAAACACTTAGAG
GTAGATGTGTGGGTTATCGAACCACAGGGACTGAGATTTCTTCATGTTCCCGACACATTTGAAGGCCATTTCGATGGTGTTCCGGTCATTTCTAAAGGACAACAG
AAGGCGCACGTCTCCTTCAAGCCCACGGTAGCACAGCAGAGAATATGCCCTAACTGCCGGGAGACTGCGGTAGATGGGGAACTGGTGGTGCTGTATGACGTGAAA
AGAGAAGAGAAGGCTGGTGAACTGGAGGTGTTTAATGGATATTTTGTCCACTTCTTTGCTCCTGACAACCTGGACCCAATTCCCAAAAACATCCTCTTTGTCATC
GATGTGAGTGGCTCCATGTGGGGAGTTAAAATGAAACAAACTGTGGAAGCAATGAAGACCATATTGGATGACCTCAGAGCAGAAGACCATTTCTCTGTGATTGAT
TTCAACCAGAACATTCGAACTTGGAGAAATGATTTAATTTCAGCTACAAAAACACAGGTTGCAGATGCCAAGAGGTATATTGAGAAAATCCAGCCCAGTGGAGGC
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ATGAAAAGACTCACGTGCTTTTTCATCTGCTTCTTTCTTTCTGAAGTATCAGGCTTCGAAATCCCCATAAATGGACTTTCTGAATTTGTAGACTATGAAGATCTT
GTGGAACTGGCCCCAGGCAAATTTCAATTGGTGGCAGAGAACCGGAGATATCAGAGAAGCCTTCCAGGAGAATCGGAAGAAATGATGGAAGAGGTTGATCAAGTA
ACTCTTTATAGCTATAAAGTCCAGTCTACTATTACTTCTCGGATGGCCACCACCATGATCCAGAGCAAAGTGGTGAACAATTCCCCGCAGCCTCAGAATGTCGTG
TTTGATGTTCAGATCCCCAAAGGAGCATTCATTTCCAACTTCTCCATGACTGTGGACGGCAAGACATTTAGGAGCTCTATTAAGGAGAAAACTGTGGGCCGAGCT
CTTTATGCACAGGCCAGAGCAAAAGGCAAGACGGCTGGCTTGGTGAGGAGCAGCGCTCTTGATATGGAAAACTTCAGAACGGAAGTAAATGTCCTCCCAGGAGCA
AAGGTGCAGTTCGAACTTCACTACCAGGAGGTGAAGTGGAGGAAGCTGGGCTCCTATGAGCACAGGATCTATCTGCAACCTGGACGGCTGGCCAAACACTTAGAG
GTAGATGTGTGGGTTATCGAACCACAGGGACTGAGATTTCTTCATGTTCCCGACACATTTGAAGGCCATTTCGATGGTGTTCCGGTCATTTCTAAAGGACAACAG
AAGGCGCACGTCTCCTTCAAGCCCACGGTAGCACAGCAGAGAATATGCCCTAACTGCCGGGAGACTGCGGTAGATGGGGAACTGGTGGTGCTGTATGACGTGAAA
AGAGAAGAGAAGGCTGGTGAACTGGAGGTGTTTAATGGATATTTTGTCCACTTCTTTGCTCCTGACAACCTGGACCCAATTCCCAAAAACATCCTCTTTGTCATC
GATGTGAGTGGCTCCATGTGGGGAGTTAAAATGAAACAAACTGTGGAAGCAATGAAGACCATATTGGATGACCTCAGAGCAGAAGACCATTTCTCTGTGATTGAT
TTCAACCAGAACATTCGAACTTGGAGAAATGATTTAATTTCAGCTACAAAAACACAGGTTGCAGATGCCAAGAGGTATATTGAGAAAATCCAGCCCAGTGGAGGC
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>ITIH2|3698|protein
MKRLTCFFICFFLSEVSGFEIPINGLSEFVDYEDLVELAPGKFQLVAENRRYQRSLPGESEEMMEEVDQVTLYSYKVQSTITSRMATTMIQSKVVNNSPQPQNVV
FDVQIPKGAFISNFSMTVDGKTFRSSIKEKTVGRALYAQARAKGKTAGLVRSSALDMENFRTEVNVLPGAKVQFELHYQEVKWRKLGSYEHRIYLQPGRLAKHLE
VDVWVIEPQGLRFLHVPDTFEGHFDGVPVISKGQQKAHVSFKPTVAQQRICPNCRETAVDGELVVLYDVKREEKAGELEVFNGYFVHFFAPDNLDPIPKNILFVI
DVSGSMWGVKMKQTVEAMKTILDDLRAEDHFSVIDFNQNIRTWRNDLISATKTQVADAKRYIEKIQPSGGTNINEALLRAIFILNEANNLGLLDPNSVSLIILVS
DGDPTVGELKLSKIQKNVKENIQDNISLFSLGMGFDVDYDFLKRLSNENHGIAQRIYGNQDTSSQLKKFYNQVSTPLLRNVQFNYPHTSVTDVTQNNFHNYFGGS
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MKRLTCFFICFFLSEVSGFEIPINGLSEFVDYEDLVELAPGKFQLVAENRRYQRSLPGESEEMMEEVDQVTLYSYKVQSTITSRMATTMIQSKVVNNSPQPQNVV
FDVQIPKGAFISNFSMTVDGKTFRSSIKEKTVGRALYAQARAKGKTAGLVRSSALDMENFRTEVNVLPGAKVQFELHYQEVKWRKLGSYEHRIYLQPGRLAKHLE
VDVWVIEPQGLRFLHVPDTFEGHFDGVPVISKGQQKAHVSFKPTVAQQRICPNCRETAVDGELVVLYDVKREEKAGELEVFNGYFVHFFAPDNLDPIPKNILFVI
DVSGSMWGVKMKQTVEAMKTILDDLRAEDHFSVIDFNQNIRTWRNDLISATKTQVADAKRYIEKIQPSGGTNINEALLRAIFILNEANNLGLLDPNSVSLIILVS
DGDPTVGELKLSKIQKNVKENIQDNISLFSLGMGFDVDYDFLKRLSNENHGIAQRIYGNQDTSSQLKKFYNQVSTPLLRNVQFNYPHTSVTDVTQNNFHNYFGGS
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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) | 1 (3) | 0 (0) | 1 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 3 (4) |
Syndromic Autism Gene TopGenome-Wide Association Studies(By Ethnic Group) TopCNV Studies TopLinkage Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Risch, 1999 | USA | microsatellite-based genomic screen |  | | PDD | 90 | - | 90 | - | - | - | - |
| Lamb, 2005 | - | microsatellite-based genomic screen | | | autism | 207 | - | 207 | - | 420 | - | - |
| Buxbaum, 2004 | USA | microsatellite-based genomic screen | |  | autism | 115 | - | 115 | - | - | - | - |
Low 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.