AutismKB 2.0

Annotation Detail for MANSC1


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Basic Information Top
Gene Symbol:MANSC1 ( 9130403P13Rik,FLJ10298,LOH12CR3 )
Gene Full Name: MANSC domain containing 1
Band: 12p13.2
Quick LinksEntrez ID:54682; OMIM: NA; Uniprot ID:MANS1_HUMAN; ENSEMBL ID: ENSG00000111261; HGNC ID: 25505
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
72N-linked (GlcNAc...) (Potential).
222N-linked (GlcNAc...) (Potential).
251N-linked (GlcNAc...) (Potential).
327N-linked (GlcNAc...) (Potential).
352N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
72N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
222N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
251N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
327N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
352N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
56Phosphotyrosine(Abl)HMM predict
147Phosphoserine(ATM)HMM predict
151Phosphothreonine(MAPK)HMM predict
160Phosphotyrosine(Jak)HMM predict
179Phosphoserine(CK2)HMM predict
204Phosphoserine(IKK)HMM predict
204Phosphoserine(ATM)HMM predict
211Phosphoserine(CK2)HMM predict
234O-linkedHMM predict
237O-linkedHMM predict
237O-linkedHMM predict
238O-linkedHMM predict
239O-linkedHMM predict
241Phosphothreonine(MAPK)HMM predict
241O-linkedHMM predict
251N-linkedHMM predict
255PhosphothreonineHMM predict
255Phosphothreonine(CDK)HMM predict
255Phosphothreonine(MAPK)HMM predict
257O-linkedHMM predict
257Phosphoserine(IKK)HMM predict
260Phosphoserine(IKK)HMM predict
260O-linkedHMM predict
266O-linkedHMM predict
272O-linkedHMM predict
273O-linkedHMM predict
276O-linkedHMM predict
280O-linkedHMM predict
304O-linkedHMM predict
305O-linkedHMM predict
305O-linkedHMM predict
316Phosphoserine(CK1)HMM predict
327N-linkedHMM predict
331N-linkedHMM predict
337N-linkedHMM predict
344Phosphoserine(IKK)HMM predict
352N-linkedHMM predict
363Phosphoserine(CAMK2)HMM predict
363Phosphoserine(IKK)HMM predict
363Phosphoserine(PKB)HMM predict
371Phosphoserine(IKK)HMM predict
377Phosphotyrosine(SRC)HMM predict
417TyrosineHMM predict
417Phosphotyrosine(PKA)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_018050
  • Location:chr12 12373484-12394435
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
FOXA1 DLD1GSE12801 12395309 12395765 456 1102
FOXA1 MCF7GSE15244 12395031 12395765 734 963
P300 T0-glioblastomaGSE21026 12395148 12395658 510 968
RARA MCF7GSE15244 12395162 12395746 584 1019
RARG MCF7GSE15244 12395031 12395746 715 953
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 12372053 12372302 249 1307
CTCF CD4SISSRdata 12372053 12372302 249 1307
KLF4 hESGSE17917 12367113 12367399 286 6229
Oct1 HelaGSE14283 12355011 12355040 29 18459
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 12378591 12378882 291 0
CTCF CD4SISSRdata 12378591 12378882 291 0
CTCF G2GSE9613 12375502 12375771 269 0
CTCF G2GSE9613 12378502 12379513 1011 0
CTCF G2GSE9613 12383171 12383420 249 0
FOXA1 DLD1GSE12801 12377580 12378142 562 0
FOXA1 MCF7GSE15244 12377580 12378113 533 0
FoxA1 MCF7MACSdata 12377706 12377850 144 0
H3ac HepG2E 12393418 12394103 685 0
Myc K562GSE19551 12378601 12378964 363 0
hScc1 BcellGSE12603 12378502 12379195 693 0
hScc1 G2GSE9613 12378502 12379411 909 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