AutismKB 2.0

Annotation Detail for MYOC


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:MYOC ( GLC1A,GPOA,JOAG,JOAG1,TIGR,myocilin )
Gene Full Name: myocilin, trabecular meshwork inducible glucocorticoid response
Band: 1q24.3
Quick LinksEntrez ID:4653; OMIM: 601652; Uniprot ID:MYOC_HUMAN; ENSEMBL ID: ENSG00000034971; HGNC ID: 7610
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
57N-linked (GlcNAc...) (Probable).
504Microbody targeting signal (Potential).
Location(AA) Modifications Resource
57N-linked (GlcNAc...) (Probable).Swiss-Prot 53.0
Location(AA) Modification Resource
8S-palmitoylHMM predict
9S-palmitoylHMM predict
52Phosphoserine(ATM)HMM predict
57N-linkedHMM predict
93Phosphoserine(PKG)HMM predict
94Phosphoserine(CK1)HMM predict
97Phosphoserine(CK1)HMM predict
123Phosphothreonine(PKC)HMM predict
172Phosphoserine(PKB)HMM predict
174Phosphoserine(CK1)HMM predict
174PhosphoserineHMM predict
174Phosphoserine(ATM)HMM predict
191Phosphothreonine(PKA)HMM predict
277O-linkedHMM predict
324O-linkedHMM predict
376Phosphotyrosine(INSR)HMM predict
425Phosphoserine(PKG)HMM predict
425Phosphoserine(CAMK2)HMM predict
441O-linkedHMM predict
443O-linkedHMM predict
444O-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_000261
  • Location:chr1 169871180-169888395
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 169891311 169891596 285 3058
CTCF CD4SISSRdata 169891311 169891596 285 3058
CTCF G2GSE9613 169890678 169891931 1253 2909
ER E2-MCF7GSE14664 169890415 169890455 40 2040
Oct1 H2O2-HelaGSE14283 169908318 169908348 30 19938
Oct1 HelaGSE14283 169899440 169899469 29 11059
Oct1 HelaGSE14283 169908318 169908347 29 19937
hScc1 BcellGSE12603 169890961 169891850 889 3010
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
NRSF mAbJurkat 169870864 169871119 255 189
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 169880746 169880958 212 0
CTCF CD4SISSRdata 169880746 169880958 212 0
CTCF G2GSE9613 169880921 169881186 265 0
Myc K562GSE19551 169880775 169881107 332 0
Myc hESGSE17917 169878973 169879274 301 0
NRSF JurkatGSE13047 169871783 169872378 595 0
NRSF mAbJurkat 169871522 169873090 1568 0
NRSF-mono JurkatQuESTdata 169871782 169872371 589 0
NRSF-poly JurkatQuESTdata 169871819 169872421 602 0
Rb QuiescentGSE19898 169880655 169881063 408 0
Rb SenescentGSE19898 169880567 169881084 517 0
hScc1 BcellGSE12603 169880921 169881426 505 0
hScc1 BcellGSE12603 169888118 169888437 319 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