AutismKB 2.0

Annotation Detail for TMBIM1


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Basic Information Top
Gene Symbol:TMBIM1 ( LFG3,MST100,MSTP100,RECS1 )
Gene Full Name: transmembrane BAX inhibitor motif containing 1
Band: 2q35
Quick LinksEntrez ID:64114; OMIM: 610364; Uniprot ID:TMBI1_HUMAN; ENSEMBL ID: ENSG00000135926; HGNC ID: 23410
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
73Phosphotyrosine.
81Phosphoserine.
Location(AA) Modifications Resource
Location(AA) Modification Resource
26Phosphotyrosine(Abl)HMM predict
73Phosphotyrosine(INSR)HMM predict
154S-palmitoylHMM predict
206O-linkedHMM predict
218O-linkedHMM predict
285Phosphotyrosine(INSR)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_022152
  • Location:chr2 218847160-218865523
  • strand:-
No data
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 218848901 218850026 1125 0
CTCF G2GSE9613 218851584 218852333 749 0
CTCF G2GSE9613 218857321 218857640 319 0
CTCF G2GSE9613 218859572 218860313 741 0
CTCF G2GSE9613 218864365 218865756 1391 0
ER Breast-CancerGSE22609 218857057 218857517 460 0
Gata1 K562GSE18868 218860625 218861217 592 0
Gata2 K562GSE18868 218860543 218861172 629 0
H3K4me2 HCT116GSE10453 218863103 218863704 601 0
H3K4me3 colorectalcancer 218863103 218864580 1477 0
H3ac HepG2E 218862628 218865089 2461 0
TAF k562GSE8489 218862628 218863381 753 0
TFAP2C MCF7GSE21234 218855420 218856262 842 0
TFAP2C MCF7GSE21234 218861823 218862236 413 0
hScc1 BcellGSE12603 218849569 218849826 257 0
hScc1 BcellGSE12603 218851930 218852374 444 0
hScc1 BcellGSE12603 218865012 218865756 744 0
hScc1 G2GSE9613 218851930 218852374 444 0
hScc1 G2GSE9613 218864711 218865697 986 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-1 hsa-mir-1-2 18 15685193
hsa-miR-1 hsa-mir-1-1 20 15685193
hsa-miR-124 hsa-mir-124-1 8 15685193
hsa-miR-124 hsa-mir-124-2 8 15685193
hsa-miR-124 hsa-mir-124-3 20 15685193
hsa-miR-373 hsa-mir-373 19 15685193
hsa-miR-373* hsa-mir-373 19 15685193
No data
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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