AutismKB 2.0

Evidence Details for CD34


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Basic Information Top
Gene Symbol:CD34 ( - )
Gene Full Name: CD34 molecule
Band: 1q32.2
Quick LinksEntrez ID:947; OMIM: 142230; Uniprot ID:CD34_HUMAN; ENSEMBL ID: ENSG00000174059; HGNC ID: 1662
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>CD34|947|nucleotide
ATGCTGGTCCGCAGGGGCGCGCGCGCAGGGCCCAGGATGCCGCGGGGCTGGACCGCGCTTTGCTTGCTGAGTTTGCTGCCTTCTGGGTTCATGAGTCTTGACAAC
AACGGTACTGCTACCCCAGAGTTACCTACCCAGGGAACATTTTCAAATGTTTCTACAAATGTATCCTACCAAGAAACTACAACACCTAGTACCCTTGGAAGTACC
AGCCTGCACCCTGTGTCTCAACATGGCAATGAGGCCACAACAAACATCACAGAAACGACAGTCAAATTCACATCTACCTCTGTGATAACCTCAGTTTATGGAAAC
ACAAACTCTTCTGTCCAGTCACAGACCTCTGTAATCAGCACAGTGTTCACCACCCCAGCCAACGTTTCAACTCCAGAGACAACCTTGAAGCCTAGCCTGTCACCT
GGAAATGTTTCAGACCTTTCAACCACTAGCACTAGCCTTGCAACATCTCCCACTAAACCCTATACATCATCTTCTCCTATCCTAAGTGACATCAAGGCAGAAATC
AAATGTTCAGGCATCAGAGAAGTGAAATTGACTCAGGGCATCTGCCTGGAGCAAAATAAGACCTCCAGCTGTGCGGAGTTTAAGAAGGACAGGGGAGAGGGCCTG
GCCCGAGTGCTGTGTGGGGAGGAGCAGGCTGATGCTGATGCTGGGGCCCAGGTATGCTCCCTGCTCCTTGCCCAGTCTGAGGTGAGGCCTCAGTGTCTACTGCTG
GTCTTGGCCAACAGAACAGAAATTTCCAGCAAACTCCAACTTATGAAAAAGCACCAATCTGACCTGAAAAAGCTGGGGATCCTAGATTTCACTGAGCAAGATGTT
GCAAGCCACCAGAGCTATTCCCAAAAGACCCTGATTGCACTGGTCACCTCGGGAGCCCTGCTGGCTGTCTTGGGCATCACTGGCTATTTCCTGATGAATCGCCGC
AGCTGGAGCCCCACAGGAGAAAGGCTGGGCGAAGACCCTTATTACACGGAAAACGGTGGAGGCCAGGGCTATAGCTCAGGACCTGGGACCTCCCCTGAGGCTCAG
GGAAAGGCCAGTGTGAACCGAGGGGCTCAGGAAAACGGGACCGGCCAGGCCACCTCCAGAAACGGCCATTCAGCAAGACAACACGTGGTGGCTGATACCGAATTG
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>CD34|947|protein
MLVRRGARAGPRMPRGWTALCLLSLLPSGFMSLDNNGTATPELPTQGTFSNVSTNVSYQETTTPSTLGSTSLHPVSQHGNEATTNITETTVKFTSTSVITSVYGN
TNSSVQSQTSVISTVFTTPANVSTPETTLKPSLSPGNVSDLSTTSTSLATSPTKPYTSSSPILSDIKAEIKCSGIREVKLTQGICLEQNKTSSCAEFKKDRGEGL
ARVLCGEEQADADAGAQVCSLLLAQSEVRPQCLLLVLANRTEISSKLQLMKKHQSDLKKLGILDFTEQDVASHQSYSQKTLIALVTSGALLAVLGITGYFLMNRR
SWSPTGERLGEDPYYTENGGGQGYSSGPGTSPEAQGKASVNRGAQENGTGQATSRNGHSARQHVVADTEL

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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 (0) 0 (0) 0 (1) 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
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Reference Source Platform ADI-R ADOS Diagnosis Family Affected Validation Method
Total Simplex Multiplex
Cukier HN, 2014 - Illumina HiSeq 2000ASD 40 - - 100 HumanExome BeadChip or Sanger sequencing
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