AutismKB 2.0

Annotation Detail for FGFR1


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Basic Information Top
Gene Symbol:FGFR1 ( BFGFR,CD331,CEK,FGFBR,FLG,FLJ99988,FLT2,HBGFR,KAL2,N-SAM,OGD )
Gene Full Name: fibroblast growth factor receptor 1
Band: 8p11.23
Quick LinksEntrez ID:2260; OMIM: 136350; Uniprot ID:FGFR1_HUMAN; ENSEMBL ID: ENSG00000077782; HGNC ID: 3688
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
77N-linked (GlcNAc...) (Potential).
117N-linked (GlcNAc...) (Potential).
227N-linked (GlcNAc...) (Potential).
240N-linked (GlcNAc...) (Potential).
264N-linked (GlcNAc...) (Potential).
296N-linked (GlcNAc...).
317N-linked (GlcNAc...) (Potential).
330N-linked (GlcNAc...) (Potential).
653Phosphotyrosine.
654Phosphotyrosine; by autocatalysis.
766Phosphotyrosine; by autocatalysis.
Location(AA) Modifications Resource
77N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
117N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
154Phosphotyrosine (FGFR1)Phospho.ELM 6.0
227N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
240N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
264N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
280Phosphotyrosine (FGFR1)Phospho.ELM 6.0
296N-linked (GlcNAc...).Swiss-Prot 53.0
307Phosphotyrosine (FGFR1)Phospho.ELM 6.0
317N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
330N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
463Phosphotyrosine (FGFR1)Phospho.ELM 6.0
583Phosphotyrosine (FGFR1)Phospho.ELM 6.0
585Phosphotyrosine (FGFR1)Phospho.ELM 6.0
605Phosphotyrosine (FGFR1)Phospho.ELM 6.0
653Phosphotyrosine (FGFR1)Phospho.ELM 6.0
654Phosphotyrosine (by autocatalysis) (Bysimilarity).Swiss-Prot 53.0
654Phosphotyrosine (FGFR1)Phospho.ELM 6.0
730Phosphotyrosine (FGFR1)Phospho.ELM 6.0
766Phosphotyrosine (by autocatalysis).Swiss-Prot 53.0
766Phosphotyrosine (FGFR1)Phospho.ELM 6.0
Location(AA) Modification Resource
15O-linkedHMM predict
20O-linkedHMM predict
20O-linkedHMM predict
77N-linkedHMM predict
91Phosphoserine(IKK)HMM predict
103O-linkedHMM predict
105Phosphoserine(CDC2)HMM predict
105Phosphoserine(CDK)HMM predict
107O-linkedHMM predict
107O-linkedHMM predict
107Phosphoserine(IKK)HMM predict
109Phosphoserine(CK1)HMM predict
111O-linkedHMM predict
125PhosphoserineHMM predict
125Phosphoserine(CK2)HMM predict
134Phosphoserine(CK1)HMM predict
135Phosphoserine(CK2)HMM predict
135Phosphoserine(CK1)HMM predict
136Phosphoserine(CK1)HMM predict
157Phosphoserine(CDC2)HMM predict
173Phosphothreonine(PKC)HMM predict
183Phosphothreonine(CDC2)HMM predict
183Phosphothreonine(CDK)HMM predict
183O-linkedHMM predict
185N-linkedHMM predict
187Phosphothreonine(PKC)HMM predict
227N-linkedHMM predict
228Phosphotyrosine(INSR)HMM predict
236Phosphotyrosine(EGFR)HMM predict
236Phosphotyrosine(SRC)HMM predict
236Phosphotyrosine(INSR)HMM predict
240N-linkedHMM predict
264N-linkedHMM predict
296N-linkedHMM predict
317N-linkedHMM predict
339Phosphotyrosine(INSR)HMM predict
428Phosphothreonine(PKA)HMM predict
433O-linkedHMM predict
450Phosphoserine(CK2)HMM predict
450Phosphoserine(CK1)HMM predict
452Phosphoserine(ATM)HMM predict
452Phosphoserine(IKK)HMM predict
463Phosphotyrosine(INSR)HMM predict
509Phosphothreonine(PKA)HMM predict
526Phosphoserine(CK1)HMM predict
586N-linkedHMM predict
590N-linkedHMM predict
596Phosphoserine(CK1)HMM predict
723Phosphoserine(IKK)HMM predict
724N-linkedHMM predict
727N-linkedHMM predict
730PhosphotyrosineHMM predict
730Phosphotyrosine(INSR)HMM predict
766Phosphotyrosine(Syk)HMM predict
766Phosphotyrosine(Jak)HMM predict
783O-linkedHMM predict
786Phosphoserine(CK2)HMM predict
790Phosphoserine(IKK)HMM predict
811ProlineHMM predict
819LeucineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_023105
  • Location:chr8 38387813-38445508
  • strand:-
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 38387355 38387571 216 351
CTCF CD4SISSRdata 38387355 38387571 216 351
hScc1 BcellGSE12603 38387179 38387575 396 437
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 38387179 38388724 1545 0
CTCF G2GSE9613 38390029 38390313 284 0
CTCF G2GSE9613 38392364 38392581 217 0
CTCF G2GSE9613 38396510 38396947 437 0
CTCF G2GSE9613 38398509 38398964 455 0
NRSF pAbJurkat 38391234 38391555 321 0
NRSF pAbJurkat 38397317 38397796 479 0
TFAP2C MCF7GSE21234 38389748 38390297 549 0
hScc1 BcellGSE12603 38388295 38388694 399 0
hScc1 CdLSGSE12603 38387179 38388724 1545 0
hScc1 G2GSE9613 38387179 38388724 1545 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-205 hsa-mir-205 1 20065103
hsa-miR-205 hsa-mir-205 1 20065103
hsa-miR-224 hsa-mir-224 X 20065103
hsa-miR-224 hsa-mir-224 X 20065103
hsa-miR-335 hsa-mir-335 7 20065103
hsa-miR-335 hsa-mir-335 7 20065103
hsa-miR-335* hsa-mir-335 7 20065103
hsa-miR-335* hsa-mir-335 7 20065103
hsa-miR-424 hsa-mir-424 X 20065103
hsa-miR-424 hsa-mir-424 X 20065103
hsa-miR-424* hsa-mir-424 X 20065103
hsa-miR-424* hsa-mir-424 X 20065103
hsa-miR-433 hsa-mir-433 14 20427658
hsa-miR-433 hsa-mir-433 14 20427658
hsa-miR-451 hsa-mir-451 17 20065103
hsa-miR-451 hsa-mir-451 17 20065103
hsa-miR-491-3p hsa-mir-491 9 20065103
hsa-miR-491-3p hsa-mir-491 9 20065103
hsa-miR-491-5p hsa-mir-491 9 20065103
hsa-miR-491-5p hsa-mir-491 9 20065103
hsa-miR-93 hsa-mir-93 7 20065103
hsa-miR-93 hsa-mir-93 7 20065103
hsa-miR-93* hsa-mir-93 7 20065103
hsa-miR-93* hsa-mir-93 7 20065103
No data
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