AutismKB 2.0

Annotation Detail for MAD2L1


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Basic Information Top
Gene Symbol:MAD2L1 ( HSMAD2,MAD2 )
Gene Full Name: MAD2 mitotic arrest deficient-like 1 (yeast)
Band: 4q27
Quick LinksEntrez ID:4085; OMIM: 601467; Uniprot ID:MD2L1_HUMAN; ENSEMBL ID: ENSG00000164109; HGNC ID: 6763
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
2N-acetylalanine.
170Phosphoserine (Probable).
178Phosphoserine (Probable).
195Phosphoserine.
Location(AA) Modifications Resource
170PhosphoserinePhospho.ELM 6.0
178PhosphoserinePhospho.ELM 6.0
195PhosphoserinePhospho.ELM 6.0
Location(AA) Modification Resource
138O-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_002358
  • Location:chr4 121200039-121207410
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 121207036 121208329 1293 272
ETS1 JurkatGSE17954 121206553 121208410 1857 71
H3K4me3 colorectalcancer 121208162 121208329 167 835
LIN54 G0GSE7516 121206904 121208011 1107 47
PAX3-FKHR Rh4GSE19063 121221841 121223619 1778 15320
PHF8 HeLaGSE20725 121206639 121208427 1788 123
PHF8 Hs68minusFBSGSE20725 121206766 121208264 1498 105
PHF8 Hs68plusFBSGSE20725 121206750 121208369 1619 149
Pol2 GM12878GSE19551 121206732 121208241 1509 76
Rb SenescentGSE19898 121207200 121207672 472 26
USF1 HepG2E 121207244 121208329 1085 376
USF2 HepG2E 121207517 121208329 812 513
p130 shRbQuiescentGSE19898 121206890 121208056 1166 63
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 121190549 121190816 267 9357
CTCF CD4GSE12889 121197007 121197169 162 2952
CTCF CD4SISSRdata 121190549 121190816 267 9357
CTCF CD4SISSRdata 121197007 121197169 162 2952
CTCF G2GSE9613 121190209 121190918 709 9476
Myc K562GSE19551 121190447 121190763 316 9435
Oct4 hESGSE17917 121190483 121190783 300 9407
Rb SenescentGSE19898 121190469 121190869 400 9371
hScc1 BcellGSE12603 121190245 121190887 642 9474
hScc1 CdLSGSE12603 121190137 121190918 781 9512
hScc1 G2GSE9613 121190098 121190918 820 9532
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
E2F4 G0GSE7516 121206777 121207946 1169 0
E2F4 SGSE7516 121206563 121207698 1135 0
H3K4me3 colorectalcancer 121206489 121207244 755 0
H3ac HepG2E 121206489 121208329 1840 0
LIN54 SGSE7516 121206904 121207625 721 0
LIN9 G0GSE7516 121206644 121208011 1367 0
LIN9 SGSE7516 121206441 121207984 1543 0
p130 QuiescentGSE19898 121207024 121207659 635 0
p130 SenescentGSE19898 121206507 121208192 1685 0
p130 shRbSenescentGSE19898 121206964 121207813 849 0
p130 G0GSE7516 121206777 121207984 1207 0
p130 SGSE7516 121206489 121207767 1278 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


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