AutismKB 2.0

Annotation Detail for EGFR


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Basic Information Top
Gene Symbol:EGFR ( ERBB,ERBB1,HER1,PIG61,mENA )
Gene Full Name: epidermal growth factor receptor
Band: 7p11.2
Quick LinksEntrez ID:1956; OMIM: 131550; Uniprot ID:EGFR_HUMAN; ENSEMBL ID: ENSG00000146648; HGNC ID: 3236
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
56N-linked (GlcNAc...) (complex); atypical;
128N-linked (GlcNAc...).
175N-linked (GlcNAc...).
196N-linked (GlcNAc...).
352N-linked (GlcNAc...).
361N-linked (GlcNAc...).
413N-linked (GlcNAc...).
444N-linked (GlcNAc...).
528N-linked (GlcNAc...).
568N-linked (GlcNAc...); partial.
603N-linked (GlcNAc...); partial.
678Phosphothreonine; by PKC.
693Phosphothreonine.
695Phosphoserine.
725Phosphothreonine.
869Phosphotyrosine.
978Phosphotyrosine.
991Phosphoserine.
993Phosphothreonine.
995Phosphoserine.
998Phosphotyrosine; by autocatalysis.
1016Phosphotyrosine; by autocatalysis.
1025Phosphoserine.
1026Phosphoserine.
1037Phosphoserine.
1039Phosphoserine.
1041Phosphothreonine.
1042Phosphoserine.
1045Phosphoserine.
1064Phosphoserine.
1069Phosphotyrosine.
1070Phosphoserine.
1071Phosphoserine.
1081Phosphoserine.
1092Phosphotyrosine; by autocatalysis.
1110Phosphotyrosine; by autocatalysis.
1138Phosphotyrosine.
1166Phosphoserine.
1172Phosphotyrosine; by autocatalysis.
1197Phosphotyrosine; by autocatalysis.
Location(AA) Modifications Resource
56N-linked (GlcNAc...) (complex); atypical;partial./FTId=CAR
128N-linked (GlcNAc...).Swiss-Prot 53.0
175N-linked (GlcNAc...).Swiss-Prot 53.0
196N-linked (GlcNAc...).Swiss-Prot 53.0
352N-linked (GlcNAc...).Swiss-Prot 53.0
361N-linked (GlcNAc...).Swiss-Prot 53.0
413N-linked (GlcNAc...).Swiss-Prot 53.0
444N-linked (GlcNAc...).Swiss-Prot 53.0
528N-linked (GlcNAc...).Swiss-Prot 53.0
568N-linked (GlcNAc...); partial.Swiss-Prot 53.0
603N-linked (GlcNAc...); partial.Swiss-Prot 53.0
678Phosphothreonine; by PKC.Swiss-Prot 53.0
678Phosphothreonine (PKC alpha;PK)Phospho.ELM 6.0
693Phosphothreonine (ERT PK;MAPK1)Phospho.ELM 6.0
693Phosphothreonine.Swiss-Prot 53.0
695PhosphoserinePhospho.ELM 6.0
695Phosphoserine.Swiss-Prot 53.0
716Glycyl lysine isopeptide (Lys-Gly)(interchain with G-Cter in ubiquitin).Swiss-Prot 53.0
737Glycyl lysine isopeptide (Lys-Gly)(interchain with G-Cter in ubiquitin).Swiss-Prot 53.0
754Glycyl lysine isopeptide (Lys-Gly)(interchain with G-Cter in ubiquitin).Swiss-Prot 53.0
768Phosphoserine (CaM-KIIalpha)Phospho.ELM 6.0
867Glycyl lysine isopeptide (Lys-Gly)(interchain with G-Cter in ubiquitin).Swiss-Prot 53.0
869Phosphotyrosine (Src)Phospho.ELM 6.0
915Phosphotyrosine (Src)Phospho.ELM 6.0
929Glycyl lysine isopeptide (Lys-Gly)(interchain with G-Cter in ubiquitin).Swiss-Prot 53.0
944Phosphotyrosine (Src)Phospho.ELM 6.0
970Glycyl lysine isopeptide (Lys-Gly)(interchain with G-Cter in ubiquitin).Swiss-Prot 53.0
978PhosphotyrosinePhospho.ELM 6.0
978Phosphotyrosine.Swiss-Prot 53.0
991PhosphoserinePhospho.ELM 6.0
991Phosphoserine.Swiss-Prot 53.0
995Phosphoserine.Swiss-Prot 53.0
998PhosphotyrosinePhospho.ELM 6.0
998Phosphotyrosine.Swiss-Prot 53.0
1016Phosphotyrosine (EGFR)Phospho.ELM 6.0
1026Phosphoserine (CDK1)Phospho.ELM 6.0
1026Phosphoserine.Swiss-Prot 53.0
1028PhosphoserinePhospho.ELM 6.0
1039PhosphoserinePhospho.ELM 6.0
1042PhosphoserinePhospho.ELM 6.0
1045PhosphoserinePhospho.ELM 6.0
1064Phosphoserine.Swiss-Prot 53.0
1064PhosphoserinePhospho.ELM 6.0
1069Phosphotyrosine.Swiss-Prot 53.0
1069PhosphotyrosinePhospho.ELM 6.0
1070Phosphoserine.Swiss-Prot 53.0
1070Phosphoserine (CaM-KIIalpha)Phospho.ELM 6.0
1071Phosphoserine.Swiss-Prot 53.0
1071Phosphoserine (CaM-KIIalpha)Phospho.ELM 6.0
1081Phosphoserine (CaM-KIIalpha)Phospho.ELM 6.0
1092Phosphotyrosine (EGFR)Phospho.ELM 6.0
1092Phosphotyrosine; by autocatalysis.Swiss-Prot 53.0
1104PhosphoserinePhospho.ELM 6.0
1110Phosphotyrosine (EGFR)Phospho.ELM 6.0
1110Phosphotyrosine; by autocatalysis.Swiss-Prot 53.0
1125Phosphotyrosine (Src)Phospho.ELM 6.0
1138Phosphotyrosine.Swiss-Prot 53.0
1166Phosphoserine (CaM-KIIalpha)Phospho.ELM 6.0
1166Phosphoserine.Swiss-Prot 53.0
1172Phosphotyrosine (EGFR)Phospho.ELM 6.0
1172Phosphotyrosine; by autocatalysis.Swiss-Prot 53.0
1190PhosphoserinePhospho.ELM 6.0
1197Phosphotyrosine; by autocatalysis.Swiss-Prot 53.0
1197Phosphotyrosine (EGFR)Phospho.ELM 6.0
Location(AA) Modification Resource
128N-linkedHMM predict
196N-linkedHMM predict
271N-linkedHMM predict
275Phosphotyrosine(Abl)HMM predict
315PhosphoserineHMM predict
333S-palmitoylHMM predict
350Phosphoserine(IKK)HMM predict
352N-linkedHMM predict
355N-linkedHMM predict
361N-linkedHMM predict
413N-linkedHMM predict
444N-linkedHMM predict
568N-linkedHMM predict
603N-linkedHMM predict
604N-linkedHMM predict
623N-linkedHMM predict
678Phosphothreonine(PKA)HMM predict
678Phosphothreonine(PKC)HMM predict
693Phosphothreonine(MAPK)HMM predict
752Phosphoserine(MAPK)HMM predict
752Phosphoserine(CDC2)HMM predict
869Phosphotyrosine(SRC)HMM predict
869Phosphotyrosine(Syk)HMM predict
892PhosphothreonineHMM predict
915Phosphotyrosine(Syk)HMM predict
978Phosphotyrosine(Syk)HMM predict
978Phosphotyrosine(Jak)HMM predict
998Phosphotyrosine(Syk)HMM predict
1016Phosphotyrosine(Jak)HMM predict
1016Phosphotyrosine(Syk)HMM predict
1026Phosphoserine(CDC2)HMM predict
1030O-linkedHMM predict
1032Phosphothreonine(MAPK)HMM predict
1032Phosphothreonine(CDK)HMM predict
1042O-linkedHMM predict
1042Phosphoserine(IKK)HMM predict
1043N-linkedHMM predict
1044N-linkedHMM predict
1071Phosphoserine(ATM)HMM predict
1094N-linkedHMM predict
1120O-linkedHMM predict
1125SulfotyrosineHMM predict
1148N-linkedHMM predict
1166Phosphoserine(CAMK2)HMM predict
1172SulfotyrosineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_005228
  • Location:chr7 55054218-55242523
  • strand:+
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 55248662 55249038 376 6327
NRSF pAbJurkat 55253114 55253363 249 10715
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 55212447 55212667 220 0
CTCF G2GSE9613 55217015 55217715 700 0
CTCF G2GSE9613 55221244 55221448 204 0
CTCF G2GSE9613 55222043 55222409 366 0
CTCF G2GSE9613 55224086 55224523 437 0
CTCF G2GSE9613 55240528 55240782 254 0
H3ac HepG2E 55212778 55213960 1182 0
Nanog hESGSE18292 55227014 55227520 506 0
Oct1 H2O2-HelaGSE14283 55241580 55241609 29 0
P300 T30-glioblastomaGSE21026 55220361 55222157 1796 0
P300 T30-glioblastomaGSE21026 55227589 55228665 1076 0
Rb SenescentGSE19898 55227784 55228415 631 0
TFAP2C MCF7GSE21234 55221316 55221821 505 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-let-7a hsa-let-7a-1 9 20097187
hsa-let-7a hsa-let-7a-2 11 20097187
hsa-let-7a hsa-let-7a-3 22 20097187
hsa-let-7a hsa-let-7a-1 9 20177422
hsa-let-7a hsa-let-7a-2 11 20177422
hsa-let-7a hsa-let-7a-3 22 20177422
hsa-let-7a hsa-let-7a-1 9 17728006
hsa-let-7a hsa-let-7a-2 11 17728006
hsa-let-7a hsa-let-7a-3 22 17728006
hsa-let-7a* hsa-let-7a-1 9 20177422
hsa-let-7a* hsa-let-7a-3 22 20177422
hsa-let-7a* hsa-let-7a-1 9 17728006
hsa-let-7a* hsa-let-7a-3 22 17728006
hsa-let-7b hsa-let-7b 22 20177422
hsa-let-7b hsa-let-7b 22 17728006
hsa-let-7b hsa-let-7b 22 18668040
hsa-let-7b* hsa-let-7b 22 20177422
hsa-let-7b* hsa-let-7b 22 17728006
hsa-let-7b* hsa-let-7b 22 18668040
hsa-let-7c hsa-let-7c 21 20177422
hsa-let-7c hsa-let-7c 21 17728006
hsa-let-7c* hsa-let-7c 21 20177422
hsa-let-7c* hsa-let-7c 21 17728006
hsa-let-7d hsa-let-7d 9 21266476
hsa-let-7d hsa-let-7d 9 20177422
hsa-let-7d hsa-let-7d 9 17728006
hsa-let-7d* hsa-let-7d 9 21266476
hsa-let-7d* hsa-let-7d 9 20177422
hsa-let-7d* hsa-let-7d 9 17728006
hsa-let-7e hsa-let-7e 19 20177422
hsa-let-7e hsa-let-7e 19 17728006
hsa-let-7e* hsa-let-7e 19 20177422
hsa-let-7e* hsa-let-7e 19 17728006
hsa-let-7f hsa-let-7f-1 9 20177422
hsa-let-7f hsa-let-7f-2 X 20177422
hsa-let-7f hsa-let-7f-1 9 17728006
hsa-let-7f hsa-let-7f-2 X 17728006
hsa-let-7f-1* hsa-let-7f-1 9 20177422
hsa-let-7f-1* hsa-let-7f-1 9 17728006
hsa-let-7f-2* hsa-let-7f-2 X 20177422
hsa-let-7f-2* hsa-let-7f-2 X 17728006
hsa-let-7g hsa-let-7g 3 20818338
hsa-let-7g hsa-let-7g 3 20177422
hsa-let-7g hsa-let-7g 3 17728006
hsa-let-7g* hsa-let-7g 3 20818338
hsa-let-7g* hsa-let-7g 3 20177422
hsa-let-7g* hsa-let-7g 3 17728006
hsa-let-7i hsa-let-7i 12 20177422
hsa-let-7i hsa-let-7i 12 17728006
hsa-let-7i* hsa-let-7i 12 20177422
hsa-let-7i* hsa-let-7i 12 17728006
hsa-miR-1 hsa-mir-1-2 18 18668040
hsa-miR-1 hsa-mir-1-1 20 18668040
hsa-miR-10b hsa-mir-10b 2 19585508
hsa-miR-10b* hsa-mir-10b 2 19585508
hsa-miR-125a-3p hsa-mir-125a 19 19881956
hsa-miR-125a-3p hsa-mir-125a 19 19702827
hsa-miR-125a-5p hsa-mir-125a 19 19881956
hsa-miR-125a-5p hsa-mir-125a 19 19702827
hsa-miR-126 hsa-mir-126 9 20097187
hsa-miR-126* hsa-mir-126 9 20097187
hsa-miR-126* hsa-mir-126 9 19493678
hsa-miR-137 hsa-mir-137 1 20818338
hsa-miR-138 hsa-mir-138-2 16 19597153
hsa-miR-138 hsa-mir-138-1 3 19597153
hsa-miR-145 hsa-mir-145 5 20097187
hsa-miR-145 hsa-mir-145 5 19493678
hsa-miR-145* hsa-mir-145 5 20097187
hsa-miR-145* hsa-mir-145 5 19493678
hsa-miR-146a hsa-mir-146a 5 20124483
hsa-miR-146a hsa-mir-146a 5 19585508
hsa-miR-146a* hsa-mir-146a 5 20124483
hsa-miR-146a* hsa-mir-146a 5 19585508
hsa-miR-146b-3p hsa-mir-146b 10 21266476
hsa-miR-146b-3p hsa-mir-146b 10 19585508
hsa-miR-146b-5p hsa-mir-146b 10 21266476
hsa-miR-146b-5p hsa-mir-146b 10 19585508
hsa-miR-155 hsa-mir-155 21 20818338
hsa-miR-155 hsa-mir-155 21 18668040
hsa-miR-155* hsa-mir-155 21 20818338
hsa-miR-155* hsa-mir-155 21 18668040
hsa-miR-16 hsa-mir-16-1 13 18668040
hsa-miR-16 hsa-mir-16-2 3 18668040
hsa-miR-182 hsa-mir-182 7 19493678
hsa-miR-182* hsa-mir-182 7 19493678
hsa-miR-183 hsa-mir-183 7 19493678
hsa-miR-183 hsa-mir-183 7 19047896
hsa-miR-183* hsa-mir-183 7 19493678
hsa-miR-183* hsa-mir-183 7 19047896
hsa-miR-18b hsa-mir-18b 0 20818338
hsa-miR-18b* hsa-mir-18b 0 20818338
hsa-miR-192 hsa-mir-192 11 19047896
hsa-miR-192* hsa-mir-192 11 19047896
hsa-miR-200a hsa-mir-200a 1 19671845
hsa-miR-200a* hsa-mir-200a 1 19671845
hsa-miR-200b hsa-mir-200b 1 19671845
hsa-miR-200b* hsa-mir-200b 1 19671845
hsa-miR-200c hsa-mir-200c 12 19671845
hsa-miR-200c* hsa-mir-200c 12 19671845
hsa-miR-206 hsa-mir-206 6 19423651
hsa-miR-20a hsa-mir-20a 13 20818338
hsa-miR-20a* hsa-mir-20a 13 20818338
hsa-miR-21 hsa-mir-21 17 21063030
hsa-miR-21 hsa-mir-21 17 20113523
hsa-miR-21 hsa-mir-21 17 20048743
hsa-miR-21 hsa-mir-21 17 19597153
hsa-miR-21 hsa-mir-21 17 19493678
hsa-miR-21* hsa-mir-21 17 21063030
hsa-miR-21* hsa-mir-21 17 20113523
hsa-miR-21* hsa-mir-21 17 20048743
hsa-miR-21* hsa-mir-21 17 19597153
hsa-miR-21* hsa-mir-21 17 19493678
hsa-miR-210 hsa-mir-210 11 19493678
hsa-miR-212 hsa-mir-212 17 20856931
hsa-miR-25 hsa-mir-25 7 20818338
hsa-miR-25* hsa-mir-25 7 20818338
hsa-miR-27a hsa-mir-27a 19 21156786
hsa-miR-27a* hsa-mir-27a 19 21156786
hsa-miR-30a hsa-mir-30a 6 18668040
hsa-miR-30a* hsa-mir-30a 6 18668040
hsa-miR-30b hsa-mir-30b 8 18668040
hsa-miR-30b* hsa-mir-30b 8 18668040
hsa-miR-30c hsa-mir-30c-2 6 18668040
hsa-miR-30c hsa-mir-30c-1 1 18668040
hsa-miR-30c-1* hsa-mir-30c-1 1 18668040
hsa-miR-30c-2* hsa-mir-30c-2 6 18668040
hsa-miR-30d hsa-mir-30d 8 18668040
hsa-miR-30d* hsa-mir-30d 8 18668040
hsa-miR-30e hsa-mir-30e 1 18668040
hsa-miR-30e* hsa-mir-30e 1 18668040
hsa-miR-32 hsa-mir-32 9 20818338
hsa-miR-32* hsa-mir-32 9 20818338
hsa-miR-328 hsa-mir-328 16 20818338
hsa-miR-331-3p hsa-mir-331 12 20931396
hsa-miR-342-3p hsa-mir-342 14 20818338
hsa-miR-342-5p hsa-mir-342 14 20818338
hsa-miR-34c-3p hsa-mir-34c 11 20818338
hsa-miR-34c-5p hsa-mir-34c 11 20818338
hsa-miR-424 hsa-mir-424 X 17889671
hsa-miR-424* hsa-mir-424 X 17889671
hsa-miR-429 hsa-mir-429 1 19671845
hsa-miR-448 hsa-mir-448 X 20798686
hsa-miR-495 hsa-mir-495 14 20818338
hsa-miR-7 hsa-mir-7-1 9 21156648
hsa-miR-7 hsa-mir-7-2 15 21156648
hsa-miR-7 hsa-mir-7-3 19 21156648
hsa-miR-7 hsa-mir-7-1 9 20978205
hsa-miR-7 hsa-mir-7-2 15 20978205
hsa-miR-7 hsa-mir-7-3 19 20978205
hsa-miR-7 hsa-mir-7-1 9 20931396
hsa-miR-7 hsa-mir-7-2 15 20931396
hsa-miR-7 hsa-mir-7-3 19 20931396
hsa-miR-7 hsa-mir-7-1 9 19073608
hsa-miR-7 hsa-mir-7-2 15 19073608
hsa-miR-7 hsa-mir-7-3 19 19073608
hsa-miR-7 hsa-mir-7-1 9 18483236
hsa-miR-7 hsa-mir-7-2 15 18483236
hsa-miR-7 hsa-mir-7-3 19 18483236
hsa-miR-7 hsa-mir-7-1 9 16377567
hsa-miR-7 hsa-mir-7-2 15 16377567
hsa-miR-7 hsa-mir-7-3 19 16377567
hsa-miR-7-1* hsa-mir-7-1 9 18483236
ID in Tarbase Data Type Support Type miRNA Gene Direct Support Publication
1036 Unknown pSILAC miR-16 EGFR down 50-25% 18668040
1153 Unknown pSILAC miR-1 EGFR down 75-50% 18668040
Ensembl Protein Type Differentially expressed in Pathology or Event Mis Regulation Gene Expression Tumour Involvement
ENSG00000146648 n_a n_a n_a "epithelium, lymphocyte, muscle cell" "benign tumour, malignant tumour, carcinoma, sarcoma"
ENSG00000146648 n_a n_a n_a "epithelium, lymphocyte, muscle cell" "benign tumour, malignant tumour, carcinoma, sarcoma"
Cis-Nats regulation Top
Cluster ID Plue Type Plus Gene Name Plus Chromosome Plus Start Plus End Overlap Length Minus Type Minus Gene Name Minus Chromosome Minus Star Minus End Type
24009 mRNA EGFR chr7 54860933 55049239 186 mRNA chr7 55021652 55030836Sense/Antisense (SA) pairs

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