AutismKB 2.0

Evidence Details for FER


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Basic Information Top
Gene Symbol:FER ( TYK3 )
Gene Full Name: fer (fps/fes related) tyrosine kinase
Band: 5q21.3
Quick LinksEntrez ID:2241; OMIM: 176942; Uniprot ID:FER_HUMAN; ENSEMBL ID: ENSG00000151422; HGNC ID: 3655
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>FER|2241|nucleotide
ATGGGGTTTGGGAGTGACCTGAAGAATTCACATGAAGCAGTGTTAAAATTGCAAGACTGGGAATTACGGTTACTGGAAACAGTAAAGAAATTTATGGCCCTGAGA
ATAAAAAGTGATAAAGAATATGCATCTACTTTACAGAACCTTTGTAATCAAGTTGATAAGGAAAGTACTGTCCAAATGAATTATGTCAGCAACGTATCCAAGTCT
TGGCTACTTATGATTCAGCAGACAGAACAACTTAGTAGGATAATGAAGACACATGCAGAGGACTTGAACTCTGGACCTTTACACAGGCTCACCATGATGATTAAG
GACAAGCAGCAGGTGAAGAAAAGTTACATAGGTGTTCATCAGCAGATAGAGGCAGAGATGATCAAGGTTACCAAAACAGAATTGGAGAAGTTAAAATGCAGCTAT
AGACAATTAATAAAAGAAATGAATTCTGCCAAAGAGAAATATAAAGAAGCTTTAGCTAAAGGGAAGGAAACTGAAAAGGCCAAGGAACGATACGACAAAGCCACA
ATGAAACTTCATATGTTGCACAATCAGTATGTATTGGCGTTGAAAGGGGCACAGCTCCATCAGAATCAGTATTATGATATCACACTTCCCCTGCTTCTGGACTCC
TTACAAAAGATGCAAGAAGAAATGATAAAAGCACTCAAAGGTATATTTGATGAATACAGCCAGATAACCAGTCTTGTCACAGAGGAAATAGTGAATGTCCATAAA
GAGATTCAAATGTCGGTTGAACAGATAGATCCTAGTACAGAATACAATAATTTCATAGATGTTCACAGAACAACGGCTGCTAAAGAACAAGAAATAGAGTTTGAT
ACTTCCTTACTGGAAGAAAATGAAAATCTTCAGGCAAATGAGATCATGTGGAATAACTTAACAGCAGAAAGTTTGCAAGTAATGTTGAAAACGTTAGCGGAAGAA
CTTATGCAAACACAGCAGATGCTTTTAAACAAGGAGGAGGCTGTTTTGGAGTTAGAGAAGAGAATTGAAGAATCTTCTGAAACTTGTGAGAAGAAGTCTGATATT
GTGCTTCTGCTAAGCCAAAAACAGGCACTTGAAGAACTGAAACAGTCAGTCCAGCAGCTGAGATGCACTGAAGCAAAGTTTTCAGCACAGAAGGAATTACTAGAG
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>FER|2241|protein
MGFGSDLKNSHEAVLKLQDWELRLLETVKKFMALRIKSDKEYASTLQNLCNQVDKESTVQMNYVSNVSKSWLLMIQQTEQLSRIMKTHAEDLNSGPLHRLTMMIK
DKQQVKKSYIGVHQQIEAEMIKVTKTELEKLKCSYRQLIKEMNSAKEKYKEALAKGKETEKAKERYDKATMKLHMLHNQYVLALKGAQLHQNQYYDITLPLLLDS
LQKMQEEMIKALKGIFDEYSQITSLVTEEIVNVHKEIQMSVEQIDPSTEYNNFIDVHRTTAAKEQEIEFDTSLLEENENLQANEIMWNNLTAESLQVMLKTLAEE
LMQTQQMLLNKEEAVLELEKRIEESSETCEKKSDIVLLLSQKQALEELKQSVQQLRCTEAKFSAQKELLEQKVQENDGKEPPPVVNYEEDARSVTSMERKERLSK
FESIRHSIAGIIRSPKSALGSSALSDMISISEKPLAEQDWYHGAIPRIEAQELLKKQGDFLVRESHGKPGEYVLSVYSDGQRRHFIIQYVDNMYRFEGTGFSNIP
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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 (1) 0 (1) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 0 (3)
Syndromic Autism Gene Top
Genome-Wide Association Studies (By Ethnic Group) Top
Family Based Association Studies: 1
Reference Stage Platform #Families Affecteds Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ
(range)
CAUCASIAN
Hussman, 2011_1 Discovery Illumina Infinium Human 1 M beadship 597 -
(-)
ASD -
-
-
-
Case Control Based Association Studies: 0
Reference Stage Platform ASD Cases Normal Controls Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ #Subjects
(% Women)
Age
(range)
No Evidence.
CNV Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
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
Michaelson JJ, 2012 - 10 565 Whole-genome sequencing in autism identifies hot spots for de novo germline mutation.
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.

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  (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