AutismKB 2.0

Annotation Detail for MED13


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Basic Information Top
Gene Symbol:MED13 ( ARC250,DRIP250,HSPC221,KIAA0593,THRAP1,TRAP240 )
Gene Full Name: mediator complex subunit 13
Band: 17q23.2
Quick LinksEntrez ID:9969; OMIM: 603808; Uniprot ID:MED13_HUMAN; ENSEMBL ID: ENSG00000108510; HGNC ID: 22474
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
326Phosphothreonine.
329Phosphothreonine.
336Phosphothreonine.
394Phosphotyrosine.
395Phosphoserine.
481Phosphoserine.
500Phosphoserine.
504Phosphoserine.
519Phosphothreonine.
530Phosphoserine.
537Phosphoserine.
863Phosphothreonine.
890Phosphoserine.
1029Phosphoserine.
1192LXXLL motif 1.
1283LXXLL motif 2.
2048Phosphoserine.
Location(AA) Modifications Resource
No data
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_005121
  • Location:chr17 57374748-57497424
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 57498096 57498490 394 869
CTCF CD4SISSRdata 57498096 57498490 394 869
CTCF G2GSE9613 57497932 57498516 584 800
Fos K562GSE19551 57497737 57498604 867 746
PHF8 293TGSE20725 57497311 57498453 1142 458
PHF8 HeLaGSE20725 57496802 57498355 1553 154
PHF8 Hs68plusFBSGSE20725 57497216 57498564 1348 466
USF1 HepG2E 57497724 57500439 2715 1657
USF2 HepG2E 57497810 57500439 2629 1700
hScc1 BcellGSE12603 57497033 57498266 1233 225
hScc1 CdLSGSE12603 57498129 57498553 424 917
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 57497102 57497678 576 0
H3K4me3 colorectalcancer 57495545 57497327 1782 0
H3ac HepG2E 57494439 57497033 2594 0
Oct1 H2O2-HelaGSE14283 57391027 57391056 29 0
Oct1 HelaGSE14283 57400445 57400471 26 0
Oct4 hESGSE17917 57440811 57440962 151 0
Sox2 hESGSE18292 57404330 57404587 257 0
TAF k562GSE8489 57494403 57496990 2587 0
hScc1 CdLSGSE12603 57496955 57497418 463 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-208a hsa-mir-208a 14 17379774
hsa-miR-208b hsa-mir-208b 14 17379774
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


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