AutismKB 2.0

Annotation Detail for GFRA1


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:GFRA1 ( DKFZp313E1012,DKFZp686J0156,FLJ10561,FLJ31546,GDNFR,GDNFRA,GFR-ALPHA-1,MGC23045,RET1L,RETL1,TRNR1 )
Gene Full Name: GDNF family receptor alpha 1
Band: 10q25.3
Quick LinksEntrez ID:2674; OMIM: 601496; Uniprot ID:GFRA1_HUMAN; ENSEMBL ID: ENSG00000151892; HGNC ID: 4243
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
59N-linked (GlcNAc...) (Potential).
347N-linked (GlcNAc...) (Potential).
406N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
59N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
347N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
406N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
429GPI-anchor amidated serine (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
121Phosphotyrosine(Syk)HMM predict
121Phosphotyrosine(Jak)HMM predict
121Phosphotyrosine(SRC)HMM predict
176O-linkedHMM predict
179O-linkedHMM predict
180O-linkedHMM predict
216S-palmitoylHMM predict
228Phosphothreonine(PKC)HMM predict
228Phosphothreonine(PKA)HMM predict
271O-linkedHMM predict
273Phosphoserine(IKK)HMM predict
275Phosphoserine(IKK)HMM predict
275Phosphoserine(CK2)HMM predict
347N-linkedHMM predict
362O-linkedHMM predict
363O-linkedHMM predict
366O-linkedHMM predict
367O-linkedHMM predict
406N-linkedHMM predict
410N-linkedHMM predict
420Phosphotyrosine(INSR)HMM predict
435Phosphoserine(IKK)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_005264
  • Location:chr10 117812942-118022965
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
FoxA1 MCF7MACSdata 118024164 118024386 222 1310
H3K27me3 colorectalcancer 118022692 118024865 2173 813
TFAP2C MCF7GSE21234 118023940 118024397 457 1203
hScc1 BcellGSE12603 118037563 118037836 273 14734
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
hScc1 BcellGSE12603 118022029 118022540 511 0
Validated miRNA targets Top
Cis-Nats regulation Top

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