AutismKB 2.0

Annotation Detail for FGFRL1


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Basic Information Top
Gene Symbol:FGFRL1 ( FGFR5,FHFR )
Gene Full Name: fibroblast growth factor receptor-like 1
Band: 4p16.3
Quick LinksEntrez ID:53834; OMIM: 605830; Uniprot ID:FGRL1_HUMAN; ENSEMBL ID: ENSG00000127418; HGNC ID: 3693
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
111N-linked (GlcNAc...) (Potential).
231N-linked (GlcNAc...) (Potential).
255N-linked (GlcNAc...) (Potential).
293N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
111N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
231N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
255N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
293N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
111N-linkedHMM predict
126Phosphoserine(PKG)HMM predict
133O-linkedHMM predict
133Phosphoserine(CK1)HMM predict
141Phosphoserine(ATM)HMM predict
150Phosphothreonine(PKA)HMM predict
150Phosphothreonine(PKC)HMM predict
205Phosphothreonine(PKA)HMM predict
231N-linkedHMM predict
244Phosphoserine(PKA)HMM predict
255N-linkedHMM predict
293N-linkedHMM predict
294Phosphoserine(PKB)HMM predict
370O-linkedHMM predict
373O-linkedHMM predict
373O-linkedHMM predict
374Phosphoserine(CK1)HMM predict
399S-palmitoylHMM predict
407O-linkedHMM predict
407Phosphothreonine(MAPK)HMM predict
452Phosphoserine(ATM)HMM predict
452PhosphoserineHMM predict
484Phosphothreonine(CDK)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_001004356
  • Location:chr4 995609-1010684
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 993431 993638 207 2075
CTCF CD4SISSRdata 993431 993638 207 2075
CTCF G2GSE9613 993397 995075 1678 1374
TFAP2C MCF7GSE21234 992715 993347 632 2579
TFAP2C MCF7GSE21234 994164 994933 769 1061
hScc1 BcellGSE12603 992995 994438 1443 1893
hScc1 G2GSE9613 994645 995333 688 621
p130 SenescentGSE19898 992968 993241 273 2505
p130 SenescentGSE19898 994169 994537 368 1257
No data
No data
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-210 hsa-mir-210 11 21044961
hsa-miR-210 hsa-mir-210 11 19782034
No data
Cis-Nats regulation 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