AutismKB 2.0

Evidence Details for ZC3H12B


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Basic Information Top
Gene Symbol:ZC3H12B ( CXorf32,MCPIP2 )
Gene Full Name: zinc finger CCCH-type containing 12B
Band: Xq11.2-q12
Quick LinksEntrez ID:340554; OMIM: NA; Uniprot ID:ZC12B_HUMAN; ENSEMBL ID: ENSG00000102053; HGNC ID: 17407
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ZC3H12B|340554|nucleotide
ATGACGGCCACAGCTGAGGTAGAGACACCAAAAATGGAGAAGAGTGCCTCCAAGGAAGAGAAGCAGCAGCCTAAGCAGGACAGCACAGAGCAGGGCAATGCTGAT
TCTGAAGAGTGGATGAGCTCTGAGAGTGACCCTGAACAGATAAGCCTTAAGAGTAGCGACAACAGCAAGAGCTGCCAACCTAGGGATGGTCAGTTGAAGAAAAAG
GAGATGCACTCCAAGCCACACCGCCAGCTCTGTCGATCACCCTGCCTAGATCGTCCAAGTTTCTCCCAGAGCAGCATTTTACAGGATGGTAAACTTGACTTGGAG
AAGGAATACCAAGCTAAGATGGAGTTTGCGCTAAAGCTGGGCTATGCAGAGGAACAGATTCAATCAGTGCTAAACAAGCTGGGCCCAGAATCACTTATTAATGAT
GTATTGGCAGAGCTTGTCAGACTTGGGAACAAAGGTGATTCAGAAGGGCAGATCAACTTGAGTCTGTTAGTGCCTCGTGGGCCCAGCTCCAGAGAGATTGCAAGC
CCTGAATTGTCTCTTGAAGATGAAATAGATAACAGTGACAATTTGAGGCCAGTTGTCATTGATGGAAGTAATGTGGCAATGAGCCATGGGAATAAAGAAGAATTC
TCCTGCAGAGGAATACAACTTGCTGTGGATTGGTTTCTAGATAAAGGCCATAAAGATATTACTGTATTTGTGCCTGCATGGAGAAAGGAGCAATCCCGCCCTGAT
GCACCAATTACAGATCAAGATATTCTACGAAAACTGGAGAAGGAAAAGATTCTTGTCTTCACACCATCCCGAAGAGTCCAAGGCAGGAGGGTTGTCTGCTATGAT
GACCGGTTCATAGTCAAACTGGCTTTTGATTCTGATGGCATCATTGTGTCCAATGATAACTACCGAGACCTTCAAGTTGAAAAGCCAGAATGGAAGAAGTTTATA
GAGGAGCGGTTGCTGATGTATTCTTTTGTGAATGACAAATTTATGCCTCCAGATGATCCATTAGGACGCCACGGCCCAAGCCTTGAAAATTTCTTAAGAAAGAGA
CCCATTGTTCCTGAGCATAAGAAGCAACCATGTCCTTATGGCAAAAAATGCACCTACGGCCACAAGTGCAAATACTACCATCCGGAGCGGGCCAACCAACCCCAG
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>ZC3H12B|340554|protein
MTATAEVETPKMEKSASKEEKQQPKQDSTEQGNADSEEWMSSESDPEQISLKSSDNSKSCQPRDGQLKKKEMHSKPHRQLCRSPCLDRPSFSQSSILQDGKLDLE
KEYQAKMEFALKLGYAEEQIQSVLNKLGPESLINDVLAELVRLGNKGDSEGQINLSLLVPRGPSSREIASPELSLEDEIDNSDNLRPVVIDGSNVAMSHGNKEEF
SCRGIQLAVDWFLDKGHKDITVFVPAWRKEQSRPDAPITDQDILRKLEKEKILVFTPSRRVQGRRVVCYDDRFIVKLAFDSDGIIVSNDNYRDLQVEKPEWKKFI
EERLLMYSFVNDKFMPPDDPLGRHGPSLENFLRKRPIVPEHKKQPCPYGKKCTYGHKCKYYHPERANQPQRSVADELRISAKLSTVKTMSEGTLAKCGTGMSSAK
GEITSEVKRVAPKRQSDPSIRSVAMEPEEWLSIARKPEASSVPSLVTALSVPTIPPPKSHAVGALNTRSASSPVPGSSHFPHQKASLEHMASMQYPPILVTNSHG
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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
O'Roak BJ, 2012 1703 209 242 Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.
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