AutismKB 2.0

Evidence Details for FGF12


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Basic Information Top
Gene Symbol:FGF12 ( FGF12B,FHF1 )
Gene Full Name: fibroblast growth factor 12
Band: 3q28-q29
Quick LinksEntrez ID:2257; OMIM: 601513; Uniprot ID:FGF12_HUMAN; ENSEMBL ID: ENSG00000114279; HGNC ID: 3668
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>FGF12|2257|nucleotide
ATGGAGAGCAAAGAACCCCAGCTCAAAGGGATTGTGACAAGGTTATTCAGCCAGCAGGGATACTTCCTGCAGATGCACCCAGATGGTACCATTGATGGGACCAAG
GACGAAAACAGCGACTACACTCTCTTCAATCTAATTCCCGTGGGCCTGCGTGTAGTGGCCATCCAAGGAGTGAAGGCTAGCCTCTATGTGGCCATGAATGGTGAA
GGCTATCTCTACAGTTCAGATGTTTTCACTCCAGAATGCAAATTCAAGGAATCTGTGTTTGAAAACTACTATGTGATCTATTCTTCCACACTGTACCGCCAGCAA
GAATCAGGCCGAGCTTGGTTTCTGGGACTCAATAAAGAAGGTCAAATTATGAAGGGGAACAGAGTGAAGAAAACCAAGCCCTCATCACATTTTGTACCGAAACCT
ATTGAAGTGTGTATGTACAGAGAACCATCGCTACATGAAATTGGAGAAAAACAAGGGCGTTCAAGGAAAAGTTCTGGAACACCAACCATGAATGGAGGCAAAGTT
GTGAATCAAGATTCAACATAG





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>FGF12|2257|protein
MESKEPQLKGIVTRLFSQQGYFLQMHPDGTIDGTKDENSDYTLFNLIPVGLRVVAIQGVKASLYVAMNGEGYLYSSDVFTPECKFKESVFENYYVIYSSTLYRQQ
ESGRAWFLGLNKEGQIMKGNRVKKTKPSSHFVPKPIEVCMYREPSLHEIGEKQGRSRKSSGTPTMNGGKVVNQDST



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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) 1 (4) 1 (1) 0 (0) 1 (1) 1 (2) 0 (0) 0 (0) 0 (0) 15 (8)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Jacquemont, 2006 France aCGHASD - - - - 29 - 29
Bremer, 2011 - aCGHASD - - - - 223 - 223
Nord, 2011 US aCGH--ASD - - - - 41 367 408
Egger G, 2014 Austria Microarray--ASD 73 - - - 245 2357 -
Linkage Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Risch, 1999 USA microsatellite-based genomic screenPDD 90 - 90 - - - -
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
Microarray Studies: 1
Reference Source Tissue #Subjects
(% Women)
ADI-R ADOS Endo- pheno Diagnosis Normal Controls
(% Women)
Fold Change Up/ Down P/Q value
Garbett, 2008_1 Unknown superior temporal gyrus (STG) 6
(33.33%)
---autism 6
(33.33%)
1.13794 Up 0.0394883
  • Platform: Affymetrix Human Genome 133 plus 2 microarrays
  • ProbeSet: 207501_s_at
  • RefSeq_ID/ EST: -
  • GEO_ID: -
  • Statistic Method: pairwise/groupwise two-tailed t-test between the RMA intensities of AUT and CONT samples
Proteomics Studies:0
Reference Source Tissue Platform #Subjects
(% Women)
ADI-R ADOS Diagnosis Normal Controls(% Women)
No Evidence.
NGS de novo Mutation Studies Top
Reference Case Number Family Number de novo Number Title
De Rubeis S, 2014 2270 - 1702 Synaptic, transcriptional and chromatin genes disrupted in autism
Bowling KM, 2017 18 - 18 Genomic diagnosis for children with intellectual disability and/or developmental delay.
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top

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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