AutismKB 2.0

Annotation Detail for IMPG1


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Basic Information Top
Gene Symbol:IMPG1 ( GP147,IPM150,SPACR )
Gene Full Name: interphotoreceptor matrix proteoglycan 1
Band: 6q14.1
Quick LinksEntrez ID:3617; OMIM: 602870; Uniprot ID:IMPG1_HUMAN; ENSEMBL ID: ENSG00000112706; HGNC ID: 6055
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
42N-linked (GlcNAc...) (Potential).
143N-linked (GlcNAc...) (Potential).
191N-linked (GlcNAc...) (Potential).
215N-linked (GlcNAc...) (Potential).
403O-linked (GalNAc...) (Potential).
421O-linked (GalNAc...) (Potential).
432O-linked (GalNAc...) (Potential).
442O-linked (GalNAc...) (Potential).
592N-linked (GlcNAc...) (Potential).
616N-linked (GlcNAc...) (Potential).
630N-linked (GlcNAc...) (Potential).
648N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
42N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
143N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
191N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
215N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
403O-linked (GalNAc...) (Potential).Swiss-Prot 53.0
421O-linked (GalNAc...) (Potential).Swiss-Prot 53.0
432O-linked (GalNAc...) (Potential).Swiss-Prot 53.0
442O-linked (GalNAc...) (Potential).Swiss-Prot 53.0
592N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
616N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
630N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
648N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
42N-linkedHMM predict
68Phosphothreonine(PKC)HMM predict
123SulfotyrosineHMM predict
143N-linkedHMM predict
146N-linkedHMM predict
200Phosphothreonine(MAPK)HMM predict
215N-linkedHMM predict
254Phosphoserine(ATM)HMM predict
258Phosphotyrosine(Syk)HMM predict
297Phosphoserine(CK2)HMM predict
297Phosphoserine(CK1)HMM predict
317Phosphoserine(IKK)HMM predict
336Phosphotyrosine(Syk)HMM predict
368Phosphoserine(CK1)HMM predict
393Phosphoserine(IKK)HMM predict
397O-linkedHMM predict
409O-linkedHMM predict
409Phosphoserine(MAPK)HMM predict
435Phosphoserine(IKK)HMM predict
443O-linkedHMM predict
458Phosphoserine(CK1)HMM predict
467O-linkedHMM predict
508Phosphoserine(CK1)HMM predict
525Phosphoserine(ATM)HMM predict
527Phosphothreonine(MAPK)HMM predict
539Phosphotyrosine(EGFR)HMM predict
541Phosphoserine(ATM)HMM predict
592N-linkedHMM predict
616N-linkedHMM predict
630N-linkedHMM predict
636N-linkedHMM predict
648N-linkedHMM predict
758Phosphotyrosine(EGFR)HMM predict
760Phosphothreonine(PKC)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_001563
  • Location:chr6 76687781-76839054
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ER E2-MCF7GSE14664 76853785 76853818 33 14747
ER Fulvestrant-MCF7GSE14664 76853784 76853818 34 14747
Oct1 H2O2-HelaGSE14283 76853785 76853812 27 14744
Oct1 H2O2-HelaGSE14283 76856274 76856304 30 17235
Oct1 HelaGSE14283 76853784 76853813 29 14744
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 76701322 76701710 388 0
CTCF CD4SISSRdata 76701322 76701710 388 0
CTCF G2GSE9613 76698549 76698808 259 0
CTCF G2GSE9613 76701085 76702039 954 0
CTCF G2GSE9613 76823759 76823897 138 0
Nanog ESGSE20650 76753354 76753869 515 0
Nanog ESGSE20650 76807606 76807938 332 0
Nanog hESGSE18292 76759411 76759835 424 0
Nanog hESGSE18292 76807457 76808031 574 0
Rb shRbQuiescentGSE19898 76701640 76701888 248 0
TFAP2C MCF7GSE21234 76763929 76764331 402 0
hScc1 BcellGSE12603 76701238 76702039 801 0
hScc1 CdLSGSE12603 76698435 76698974 539 0
hScc1 CdLSGSE12603 76701275 76701962 687 0
hScc1 G2GSE9613 76701006 76702074 1068 0
p130 QuiescentGSE19898 76701730 76702004 274 0
p130 shRbSenescentGSE19898 76701652 76701977 325 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