AutismKB 2.0

Evidence Details for ITIH4


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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 LinksEntrez 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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>ITIH4|3700|protein
MKPPRPVRTCSKVLVLLSLLAIHQTTTAEKNGIDIYSLTVDSRVSSRFAHTVVTSRVVNRANTVQEATFQMELPKKAFITNFSMIIDGMTYPGIIKEKAEAQAQY
SAAVAKGKSAGLVKATGRNMEQFQVSVSVAPNAKITFELVYEELLKRRLGVYELLLKVRPQQLVKHLQMDIHIFEPQGISFLETESTFMTNQLVDALTTWQNKTK
AHIRFKPTLSQQQKSPEQQETVLDGNLIIRYDVDRAISGGSIQIENGYFVHYFAPEGLTTMPKNVVFVIDKSGSMSGRKIQQTREALIKILDDLSPRDQFNLIVF
STEATQWRPSLVPASAENVNKARSFAAGIQALGGTNINDAMLMAVQLLDSSNQEERLPEGSVSLIILLTDGDPTVGETNPRSIQNNVREAVSGRYSLFCLGFGFD
VSYAFLEKLALDNGGLARRIHEDSDSALQLQDFYQEVANPLLTAVTFEYPSNAVEEVTQNNFRLLFKGSEMVVAGKLQDRGPDVLTATVSGKLPTQNITFQTESS
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Evidence summary Top

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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 Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top