AutismKB 2.0

Annotation Detail for MAN1B1


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Basic Information Top
Gene Symbol:MAN1B1 ( ERMan1,MANA-ER )
Gene Full Name: mannosidase, alpha, class 1B, member 1
Band: 9q34.3
Quick LinksEntrez ID:11253; OMIM: 604346; Uniprot ID:MA1B1_HUMAN; ENSEMBL ID: ENSG00000177239; HGNC ID: 6823
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
No data
No data
Location(AA) Modification Resource
15Phosphoserine(ATM)HMM predict
60Phosphotyrosine(Jak)HMM predict
144Phosphothreonine(CK2)HMM predict
154Phosphoserine(CK1)HMM predict
157Phosphothreonine(PKC)HMM predict
174Phosphoserine(ATM)HMM predict
242Phosphothreonine(PKA)HMM predict
368Phosphothreonine(CDC2)HMM predict
393O-linkedHMM predict
466SulfotyrosineHMM predict
638Phosphotyrosine(INSR)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_016219
  • Location:chr9 139101199-139123459
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ETS1 JurkatGSE17954 139100463 139101578 1115 179
HIF1 HypoHepG2 139100708 139101540 832 76
HIF1 NormHepG2 139100539 139101507 968 177
TFAP2C MCF7GSE21234 139099704 139100541 837 1077
VDR GM10861-UnstimGSE22484 139099818 139101793 1975 394
VDR GM10861-stimGSE22484 139099213 139102285 3072 451
hScc1 BcellGSE12603 139100340 139101437 1097 311
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 139109869 139110279 410 0
CTCF CD4SISSRdata 139109869 139110279 410 0
H3ac HepG2E 139101620 139103077 1457 0
H3ac HepG2E 139103563 139104780 1217 0
Rb shRbQuiescentGSE19898 139101144 139101305 161 0
TFAP2C MCF7GSE21234 139103403 139104151 748 0
hScc1 BcellGSE12603 139113630 139113918 288 0
p130 shRbSenescentGSE19898 139101110 139101301 191 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