AutismKB 2.0

Annotation Detail for MADD


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Basic Information Top
Gene Symbol:MADD ( DENN,FLJ35600,FLJ36300,IG20,KIAA0358,RAB3GEP )
Gene Full Name: MAP-kinase activating death domain
Band: 11p11.2
Quick LinksEntrez ID:8567; OMIM: 603584; Uniprot ID:MADD_HUMAN; ENSEMBL ID: ENSG00000110514; HGNC ID: 6766
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
818Phosphoserine.
820Phosphoserine.
921Phosphoserine.
1059Phosphoserine (By similarity).
1061Phosphothreonine (By similarity).
1237Phosphothreonine.
1270Phosphoserine.
Location(AA) Modifications Resource
1059Phosphoserine (By similarity).Swiss-Prot 53.0
1061Phosphothreonine (By similarity).Swiss-Prot 53.0
Location(AA) Modification Resource
24Phosphoserine(PKB)HMM predict
27Phosphoserine(IKK)HMM predict
31Phosphothreonine(MAPK)HMM predict
31Phosphothreonine(CDK)HMM predict
70Phosphoserine(PKA)HMM predict
138Phosphoserine(CK1)HMM predict
138Phosphoserine(CK2)HMM predict
138Phosphoserine(IKK)HMM predict
140Phosphoserine(CK1)HMM predict
140Phosphoserine(IKK)HMM predict
154N-linkedHMM predict
156Phosphoserine(CDC2)HMM predict
156Phosphoserine(CDK)HMM predict
171N-linkedHMM predict
172Phosphoserine(PKG)HMM predict
257Phosphoserine(CDC2)HMM predict
262O-linkedHMM predict
348Phosphotyrosine(INSR)HMM predict
468Phosphothreonine(MAPK)HMM predict
527Phosphoserine(IKK)HMM predict
536Phosphothreonine(MAPK)HMM predict
557N-linkedHMM predict
560N-linkedHMM predict
561Phosphotyrosine(Abl)HMM predict
606Phosphoserine(ATM)HMM predict
613Phosphoserine(CK1)HMM predict
615Phosphoserine(CK1)HMM predict
615Phosphoserine(IKK)HMM predict
621Phosphoserine(IKK)HMM predict
628Phosphotyrosine(Syk)HMM predict
633Phosphoserine(CK1)HMM predict
635Phosphotyrosine(INSR)HMM predict
636Phosphoserine(CK1)HMM predict
669Phosphoserine(CK2)HMM predict
689Phosphoserine(IKK)HMM predict
692Phosphoserine(CK1)HMM predict
701O-linkedHMM predict
702O-linkedHMM predict
702Phosphoserine(CK1)HMM predict
703Phosphoserine(IKK)HMM predict
704O-linkedHMM predict
705O-linkedHMM predict
708O-linkedHMM predict
709O-linkedHMM predict
711O-linkedHMM predict
711O-linkedHMM predict
741O-linkedHMM predict
768Phosphotyrosine(INSR)HMM predict
768SulfotyrosineHMM predict
772Phosphotyrosine(Syk)HMM predict
777Phosphotyrosine(SRC)HMM predict
777Phosphotyrosine(Abl)HMM predict
777SulfotyrosineHMM predict
792Phosphotyrosine(Jak)HMM predict
797Phosphoserine(ATM)HMM predict
820Phosphoserine(CK2)HMM predict
824Phosphoserine(CK1)HMM predict
830Phosphoserine(CDC2)HMM predict
830Phosphoserine(IKK)HMM predict
830Phosphoserine(PKB)HMM predict
832N-linkedHMM predict
833Phosphoserine(IKK)HMM predict
834O-linkedHMM predict
836Phosphoserine(IKK)HMM predict
837N-linkedHMM predict
838O-linkedHMM predict
856N-linkedHMM predict
865N-linkedHMM predict
921Phosphoserine(CDC2)HMM predict
923Phosphothreonine(PKC)HMM predict
930Phosphoserine(CDC2)HMM predict
930Phosphoserine(CDK)HMM predict
937N-linkedHMM predict
938Phosphoserine(CK1)HMM predict
939Phosphoserine(CK1)HMM predict
941N-linkedHMM predict
1008Phosphotyrosine(Syk)HMM predict
1048SulfotyrosineHMM predict
1059Phosphoserine(PKG)HMM predict
1059Phosphoserine(CDC2)HMM predict
1059Phosphoserine(IKK)HMM predict
1059Phosphoserine(PKB)HMM predict
1166O-linkedHMM predict
1168O-linkedHMM predict
1170Phosphoserine(CDC2)HMM predict
1171Phosphoserine(ATM)HMM predict
1192Phosphoserine(ATM)HMM predict
1192Phosphoserine(IKK)HMM predict
1195O-linkedHMM predict
1195Phosphoserine(IKK)HMM predict
1203N-linkedHMM predict
1216Phosphoserine(CK1)HMM predict
1270Phosphoserine(CDC2)HMM predict
1274Phosphothreonine(CK2)HMM predict
1315Phosphoserine(CK1)HMM predict
1410Phosphoserine(ATM)HMM predict
1485N-linkedHMM predict
1501N-linkedHMM predict
1503Phosphoserine(CAMK2)HMM predict
1535Phosphoserine(PKG)HMM predict
1633SerineHMM predict
1633Phosphoserine(CK2)HMM predict
1640Phosphothreonine(CDC2)HMM predict
1640Phosphothreonine(CDK)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_130470
  • Location:chr11 47247534-47308157
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
p130 SenescentGSE19898 47246899 47247713 814 229
p130 shRbSenescentGSE19898 47247191 47247328 137 275
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ETS1 JurkatGSE17954 47246726 47248574 1848 0
p130 shRbSenescentGSE19898 47247403 47247718 315 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
4396 mRNA MADD chr11 47247534 47308158 1454 EST chr11 47248783 47250237 Non-exonic Bidirectional (NOB) 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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