AutismKB 2.0

Evidence Details for AHDC1


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:AHDC1 ( CL23945,DJ159A19.3,RP1-159A19.1 )
Gene Full Name: AT hook, DNA binding motif, containing 1
Band: 1p36.11-p35.3
Quick LinksEntrez ID:27245; OMIM: NA; Uniprot ID:AHDC1_HUMAN; ENSEMBL ID: ENSG00000126705; HGNC ID: 25230
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>AHDC1|27245|nucleotide
ATGCGTGTGAAGCCCCAGGGCCTGGTGGTGACTTCCAGTGCCGTGTGCAGCTCTCCTGACTACCTCCGGGAACCCAAGTACTACCCCGGCGGCCCCCCCACCCCC
CGGCCCCTGCTTCCCACCCGGCCCCCTGCCAGCCCACCTGACAAGGCCTTCTCCACCCACGCCTTCTCCGAGAACCCACGCCCACCCCCACGCCGGGACCCCAGC
ACCCGGCGCCCACCAGTCCTTGCCAAGGGGGACGACCCGCTGCCCCCACGGGCAGCCCGTCCTGTCTCACAGGCCCGCTGCCCCACACCGGTCGGAGACGGCAGC
AGCTCCCGACGCTGCTGGGACAACGGGCGGGTGAACCTGCGACCAGTGGTGCAGCTGATTGACATCATGAAGGACCTGACACGCCTCTCCCAGGACCTGCAGCAC
AGTGGTGTACACCTGGACTGTGGTGGGCTCCGACTGAGCCGCCCGCCTGCACCGCCACCCGGCGACCTACAGTACAGCTTCTTCTCCTCACCCAGTTTGGCCAAC
AGCATCCGTAGCCCTGAGGAGCGGGCCACCCCACACGCCAAGTCGGAGCGGCCCAGCCATCCCCTCTACGAGCCTGAGCCTGAGCCTAGGGACAGTCCCCAGCCT
GGCCAAGGCCATAGTCCCGGAGCCACGGCTGCGGCCACGGGTCTGCCCCCAGAGCCTGAGCCAGACAGCACTGATTACTCAGAACTTGCTGACGCCGACATCCTT
AGTGAGCTGGCCTCCCTCACTTGCCCAGAGGCCCAGCTGCTAGAGGCCCAGGCCCTCGAGCCACCATCGCCCGAGCCGGAGCCTCAGCTCCTGGACCCCCAGCCC
CGCTTCCTGGACCCGCAGGCACTAGAGCCGCTCGGGGAAGCTCTGGAGCTGCCACCCCTGCAACCTCTTGCTGATCCTCTGGGGCTGCCGGGCCTGGCTCTCCAG
GCCCTGGACACCCTGCCTGACTCCTTGGAGTCGCAGCTGCTTGACCCCCAGGCACTCGACCCCCTGCCCAAGCTGCTTGACGTCCCAGGTCGCCGTCTGGAGCCC
CAGCAGCCCCTGGGGCACTGCCCACTGGCCGAGCCCTTGCGCCTGGACTTGTGCTCACCGCACGGCCCCCCCGGGCCTGAGGGTCACCCCAAGTACGCCTTGCGG
Show »

>AHDC1|27245|protein
MRVKPQGLVVTSSAVCSSPDYLREPKYYPGGPPTPRPLLPTRPPASPPDKAFSTHAFSENPRPPPRRDPSTRRPPVLAKGDDPLPPRAARPVSQARCPTPVGDGS
SSRRCWDNGRVNLRPVVQLIDIMKDLTRLSQDLQHSGVHLDCGGLRLSRPPAPPPGDLQYSFFSSPSLANSIRSPEERATPHAKSERPSHPLYEPEPEPRDSPQP
GQGHSPGATAAATGLPPEPEPDSTDYSELADADILSELASLTCPEAQLLEAQALEPPSPEPEPQLLDPQPRFLDPQALEPLGEALELPPLQPLADPLGLPGLALQ
ALDTLPDSLESQLLDPQALDPLPKLLDVPGRRLEPQQPLGHCPLAEPLRLDLCSPHGPPGPEGHPKYALRRTDRPKILCRRRKAGRGRKADAGPEGRLLPLPMPT
GLVAALAEPPPPPPPPPPALPGPGPVSVPELKPESSQTPVVSTRKGKCRGVRRMVVKMAKIPVSLGRRNKTTYKVSSLSSSLSVEGKELGLRVSAEPTPLLKMKN
Show »

Evidence summary Top

Click 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) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) (0)
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
Iossifov I, 2014 2508 - 1194 The contribution of de novo coding mutations to autism spectrum disorder.
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