AutismKB 2.0

Annotation Detail for MAFB


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:MAFB ( KRML,MGC43127 )
Gene Full Name: v-maf musculoaponeurotic fibrosarcoma oncogene homolog B (avian)
Band: 20q12
Quick LinksEntrez ID:9935; OMIM: 608968; Uniprot ID:MAFB_HUMAN; ENSEMBL ID: ENSG00000204103; HGNC ID: 6408
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
No data
No data
Location(AA) Modification Resource
14Phosphoserine(IKK)HMM predict
14PhosphoserineHMM predict
14Phosphoserine(MAPK)HMM predict
14Phosphoserine(CDC2)HMM predict
56O-linkedHMM predict
57O-linkedHMM predict
58Phosphothreonine(MAPK)HMM predict
58Phosphothreonine(CDK)HMM predict
62Phosphothreonine(MAPK)HMM predict
62O-linkedHMM predict
62PhosphothreonineHMM predict
70Phosphoserine(CDC2)HMM predict
70PhosphoserineHMM predict
70O-linkedHMM predict
72O-linkedHMM predict
72Phosphoserine(IKK)HMM predict
74O-linkedHMM predict
74Phosphoserine(CDK)HMM predict
74Phosphoserine(CDC2)HMM predict
101N-linkedHMM predict
126Phosphoserine(CDK)HMM predict
170O-linkedHMM predict
174O-linkedHMM predict
174O-linkedHMM predict
175O-linkedHMM predict
175O-linkedHMM predict
178Phosphoserine(IKK)HMM predict
178O-linkedHMM predict
178Phosphoserine(CDC2)HMM predict
178Phosphoserine(CAMK2)HMM predict
185O-linkedHMM predict
186O-linkedHMM predict
197O-linkedHMM predict
199O-linkedHMM predict
204N-linkedHMM predict
212Phosphoserine(CK1)HMM predict
245Phosphothreonine(PKA)HMM predict
245Phosphothreonine(PKC)HMM predict
294Phosphotyrosine(Jak)HMM predict
312Phosphothreonine(PKC)HMM predict
313Phosphoserine(ATM)HMM predict
315Phosphoserine(IKK)HMM predict
315Phosphoserine(CDC2)HMM predict
318Phosphoserine(MAPK)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_005461
  • Location:chr20 38747932-38751289
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 38752139 38752311 172 936
CTCF CD4SISSRdata 38752139 38752311 172 936
CTCF JurkatGSE12889 38752153 38752422 269 998
CTCF G2GSE9613 38750739 38752586 1847 373
CTCF G2GSE9613 38764418 38764624 206 13232
H3K27me3 colorectalcancer 38753968 38755827 1859 3608
H3K27me3 colorectalcancer 38756451 38757725 1274 5799
H3K27me3 colorectalcancer 38758993 38760570 1577 8492
PHF8 Hs68minusFBSGSE20725 38751183 38752310 1127 457
STAT1 HeLaGSE12782 38763745 38765233 1488 13200
STAT1 HeLaGSE12783 38763779 38765199 1420 13200
STAT1 IFNSISSRdata 38764277 38765188 911 13443
hScc1 BcellGSE12603 38751474 38752742 1268 819
hScc1 G2GSE9613 38751807 38752664 857 946
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 38732360 38732578 218 15464
hScc1 BcellGSE12603 38747201 38747683 482 491
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
hScc1 BcellGSE12603 38749608 38750044 436 0
hScc1 BcellGSE12603 38750636 38751106 470 0
p130 shRbSenescentGSE19898 38751144 38751296 152 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-101 hsa-mir-101-1 1 16549775
hsa-miR-101 hsa-mir-101-2 9 16549775
hsa-miR-10a hsa-mir-10a 17 16549775
hsa-miR-10a* hsa-mir-10a 17 16549775
hsa-miR-10b hsa-mir-10b 2 16549775
hsa-miR-10b* hsa-mir-10b 2 16549775
hsa-miR-126 hsa-mir-126 9 16549775
hsa-miR-126* hsa-mir-126 9 16549775
hsa-miR-130a hsa-mir-130a 11 16549775
hsa-miR-130a* hsa-mir-130a 11 16549775
hsa-miR-135a hsa-mir-135a-1 3 16549775
hsa-miR-135a hsa-mir-135a-2 12 16549775
hsa-miR-135a* hsa-mir-135a-1 3 16549775
hsa-miR-135b hsa-mir-135b 1 16549775
hsa-miR-135b* hsa-mir-135b 1 16549775
hsa-miR-17 hsa-mir-17 13 16549775
hsa-miR-17* hsa-mir-17 13 16549775
hsa-miR-99a hsa-mir-99a 21 16549775
hsa-miR-99a* hsa-mir-99a 21 16549775
ID in Tarbase Data Type Support Type miRNA Gene Direct Support Publication
443 mRNA repression TRUE miR-130 MAFB in vitro reporter gene assay (Luciferase) 16549775
Ensembl Protein Type Differentially expressed in Pathology or Event Mis Regulation Gene Expression Tumour Involvement
ENSG00000204103 n_a n_a n_a n_a n_a
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