AutismKB 2.0

Annotation Detail for ENG


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Basic Information Top
Gene Symbol:ENG ( CD105,END,FLJ41744,HHT1,ORW,ORW1 )
Gene Full Name: endoglin
Band: 9q34.11
Quick LinksEntrez ID:2022; OMIM: 131195; Uniprot ID:EGLN_HUMAN; ENSEMBL ID: ENSG00000106991; HGNC ID: 3349
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
88N-linked (GlcNAc...) (Potential).
102N-linked (GlcNAc...) (Potential).
121N-linked (GlcNAc...) (Potential).
134N-linked (GlcNAc...).
307N-linked (GlcNAc...) (Potential).
401Cell attachment site (Potential).
Location(AA) Modifications Resource
88N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
102N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
121N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
134N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
307N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
20Phosphoserine(MAPK)HMM predict
20Phosphoserine(CDC2)HMM predict
22O-linkedHMM predict
23Phosphoserine(IKK)HMM predict
47O-linkedHMM predict
47Phosphoserine(ATM)HMM predict
88N-linkedHMM predict
102N-linkedHMM predict
121N-linkedHMM predict
134N-linkedHMM predict
336Phosphothreonine(PKC)HMM predict
337Phosphoserine(CDC2)HMM predict
337O-linkedHMM predict
343Phosphothreonine(PKC)HMM predict
351Phosphoserine(MAPK)HMM predict
410Phosphoserine(IKK)HMM predict
434Phosphoserine(CDC2)HMM predict
434Phosphoserine(CDK)HMM predict
480Phosphoserine(CDC2)HMM predict
521Phosphoserine(MAPK)HMM predict
521Phosphoserine(CDC2)HMM predict
523Phosphoserine(ATM)HMM predict
523Phosphoserine(CDC2)HMM predict
550O-linkedHMM predict
576Phosphoserine(MAPK)HMM predict
619PhosphoserineHMM predict
619Phosphoserine(CDK)HMM predict
619Phosphoserine(CDK)HMM predict
619Phosphoserine(CDC2)HMM predict
621PhosphoserineHMM predict
621Phosphoserine(PKC)HMM predict
634Phosphoserine(IKK)HMM predict
634O-linkedHMM predict
635Phosphoserine(CK1)HMM predict
635O-linkedHMM predict
637Phosphoserine(CK1)HMM predict
638Phosphoserine(CK1)HMM predict
639Phosphoserine(CK1)HMM predict
645GlycineHMM predict
646O-linkedHMM predict
647O-linkedHMM predict
650O-linkedHMM predict
650Phosphothreonine(MAPK)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_000118
  • Location:chr9 129617116-129656804
  • strand:-
No data
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Rb SenescentGSE19898 129640581 129640898 317 0
Rb shRbSenescenceGSE19898 129620634 129620856 222 0
TFAP2C MCF7GSE21234 129656540 129656950 410 0
hScc1 BcellGSE12603 129631906 129632124 218 0
hScc1 BcellGSE12603 129637406 129638397 991 0
hScc1 BcellGSE12603 129652117 129652298 181 0
hScc1 BcellGSE12603 129655340 129655750 410 0
p130 QuiescentGSE19898 129630768 129631141 373 0
p130 QuiescentGSE19898 129640655 129641022 367 0
p130 SenescentGSE19898 129640372 129640957 585 0
p130 shRbQuiescentGSE19898 129630626 129631101 475 0
p130 shRbQuiescentGSE19898 129637340 129638785 1445 0
p130 shRbQuiescentGSE19898 129640366 129641159 793 0
p130 shRbSenescentGSE19898 129637785 129638469 684 0
p130 shRbSenescentGSE19898 129640339 129640627 288 0
Validated miRNA targets Top
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
27062 mRNA chr9 127657898 127664353 122 mRNA ENG chr9 127656849 127696538Sense/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


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