AutismKB 2.0

Evidence Details for HNRNPH2


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Basic Information Top
Gene Symbol:HNRNPH2 ( FTP3,HNRPH',HNRPH2,hnRNPH' )
Gene Full Name: heterogeneous nuclear ribonucleoprotein H2 (H')
Band: Xq22.1
Quick LinksEntrez ID:3188; OMIM: 300610; Uniprot ID:HNRH2_HUMAN; ENSEMBL ID: ENSG00000126945; HGNC ID: 5042
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>HNRNPH2|3188|nucleotide
ATGATGCTGAGCACGGAAGGCAGGGAGGGGTTCGTGGTGAAGGTCAGGGGCCTACCCTGGTCCTGCTCAGCCGATGAAGTGATGCGCTTCTTCTCTGATTGCAAG
ATCCAAAATGGCACATCAGGTATTCGTTTCATCTACACCAGAGAAGGCAGACCAAGTGGTGAAGCATTTGTTGAACTTGAATCTGAAGAGGAAGTGAAATTGGCT
TTGAAGAAGGACAGAGAAACCATGGGACACAGATACGTTGAAGTATTCAAGTCTAACAGTGTTGAAATGGATTGGGTGTTGAAGCATACAGGTCCGAATAGCCCT
GATACTGCCAACGATGGCTTCGTCCGGCTTAGAGGACTCCCATTTGGCTGTAGCAAGGAAGAGATTGTTCAGTTCTTTTCAGGGTTGGAAATTGTGCCAAATGGG
ATGACACTGCCAGTGGACTTTCAGGGGCGAAGCACAGGGGAAGCCTTTGTGCAGTTTGCTTCACAGGAGATAGCTGAGAAGGCCTTAAAGAAACACAAGGAAAGA
ATAGGGCACAGGTACATTGAGATCTTCAAGAGTAGCCGAGCTGAAGTTCGAACCCACTATGATCCCCCTCGAAAGCTCATGGCTATGCAGCGGCCAGGTCCCTAT
GATAGGCCGGGGGCTGGCAGAGGGTATAATAGCATTGGCAGAGGAGCTGGGTTTGAAAGGATGAGGCGTGGTGCCTATGGTGGAGGGTATGGAGGCTATGATGAC
TATGGTGGCTATAATGATGGATATGGCTTTGGGTCTGATAGATTTGGAAGAGACCTCAATTACTGTTTTTCAGGAATGTCTGATCATAGATACGGAGATGGTGGG
TCCAGTTTCCAGAGCACCACAGGGCACTGTGTACACATGAGGGGGTTACCTTACAGAGCCACTGAGAATGATATTTATAATTTCTTCTCACCTCTTAATCCCATG
AGAGTACATATTGAAATTGGACCCGATGGCAGAGTTACCGGTGAGGCAGATGTTGAATTTGCTACTCATGAAGATGCTGTGGCAGCTATGGCAAAAGACAAAGCT
AATATGCAACACAGATATGTGGAGCTCTTCTTAAATTCTACTGCAGGAACAAGTGGGGGTGCTTACGATCACAGCTATGTAGAACTTTTTTTGAATTCTACAGCA
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>HNRNPH2|3188|protein
MMLSTEGREGFVVKVRGLPWSCSADEVMRFFSDCKIQNGTSGIRFIYTREGRPSGEAFVELESEEEVKLALKKDRETMGHRYVEVFKSNSVEMDWVLKHTGPNSP
DTANDGFVRLRGLPFGCSKEEIVQFFSGLEIVPNGMTLPVDFQGRSTGEAFVQFASQEIAEKALKKHKERIGHRYIEIFKSSRAEVRTHYDPPRKLMAMQRPGPY
DRPGAGRGYNSIGRGAGFERMRRGAYGGGYGGYDDYGGYNDGYGFGSDRFGRDLNYCFSGMSDHRYGDGGSSFQSTTGHCVHMRGLPYRATENDIYNFFSPLNPM
RVHIEIGPDGRVTGEADVEFATHEDAVAAMAKDKANMQHRYVELFLNSTAGTSGGAYDHSYVELFLNSTAGASGGAYGSQMMGGMGLSNQSSYGGPASQQLSGGY
GGGYGGQSSMSGYDQVLQENSSDYQSNLA
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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) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 0 (1)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
Reference Case Number Family Number de novo Number Title
Takata A, 2018 262 262 322 Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum Di
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top

Contact 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.

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018