AutismKB 2.0

Annotation Detail for TMC1


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Basic Information Top
Gene Symbol:TMC1 ( DFNA36,DFNB11,DFNB7 )
Gene Full Name: transmembrane channel-like 1
Band: 9q21.13
Quick LinksEntrez ID:117531; OMIM: 606706; Uniprot ID:TMC1_HUMAN; ENSEMBL ID: ENSG00000165091; HGNC ID: 16513
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
No data
No data
Location(AA) Modification Resource
21Phosphoserine(CK1)HMM predict
21Phosphoserine(CK2)HMM predict
22Phosphoserine(CK2)HMM predict
22Phosphoserine(CK1)HMM predict
37Phosphoserine(PKB)HMM predict
37Phosphoserine(PKG)HMM predict
45Phosphothreonine(PKA)HMM predict
128PhosphoserineHMM predict
183Phosphoserine(IKK)HMM predict
433Phosphotyrosine(INSR)HMM predict
478N-linkedHMM predict
491N-linkedHMM predict
495O-linkedHMM predict
497N-linkedHMM predict
636Phosphotyrosine(Syk)HMM predict
717N-linkedHMM predict
745AsparagineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_138691
  • Location:chr9 74326536-74641086
  • strand:+
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF HelaGSE12889 74648898 74649080 182 7903
ER Fulvestrant-MCF7GSE14664 74643750 74643846 96 2712
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 74332151 74332461 310 0
CTCF CD4GSE12889 74397471 74397804 333 0
CTCF CD4SISSRdata 74332151 74332461 310 0
CTCF CD4SISSRdata 74397471 74397804 333 0
ER E2-MCF7GSE14664 74352423 74352457 34 0
ER E2-MCF7GSE14664 74579632 74579720 88 0
ER E2-MCF7GSE14664 74606826 74606873 47 0
ER E2-MCF7GSE14664 74633620 74633652 32 0
ER E2-MCF7GSE14664 74634989 74635073 84 0
ER Fulvestrant-MCF7GSE14664 74421510 74421563 53 0
ER Fulvestrant-MCF7GSE14664 74485905 74485943 38 0
ER Fulvestrant-MCF7GSE14664 74634991 74635096 105 0
FOXA1 MCF7GSE15244 74397180 74397774 594 0
Fos K562GSE19551 74362167 74362712 545 0
Fos K562GSE19551 74391502 74391964 462 0
FoxA1 MCF7MACSdata 74330064 74330204 140 0
FoxA1 MCF7MACSdata 74338140 74338417 277 0
Gata2 K562GSE18868 74394495 74394934 439 0
KLF4 hESGSE17917 74389768 74390057 289 0
Nanog hESGSE18292 74485269 74486314 1045 0
Oct1 H2O2-HelaGSE14283 74395834 74395878 44 0
Oct1 H2O2-HelaGSE14283 74405036 74405065 29 0
Oct1 H2O2-HelaGSE14283 74532494 74532524 30 0
Oct1 HelaGSE14283 74352421 74352515 94 0
Oct1 HelaGSE14283 74395846 74395875 29 0
Oct1 HelaGSE14283 74405036 74405068 32 0
Oct1 HelaGSE14283 74406093 74406128 35 0
Oct1 HelaGSE14283 74462771 74462811 40 0
Oct1 HelaGSE14283 74532494 74532537 43 0
Oct1 HelaGSE14283 74545277 74545311 34 0
Oct4 hESGSE17917 74332215 74332470 255 0
Oct4 hESGSE17917 74389903 74390057 154 0
Oct4 hESGSE17917 74485416 74485648 232 0
Oct4 hESGSE21916 74485252 74485789 537 0
P300 T0-glioblastomaGSE21026 74632850 74633559 709 0
P300 T30-glioblastomaGSE21026 74632946 74633699 753 0
RARA MCF7GSE15244 74329626 74330410 784 0
STAT1 HeLaGSE12783 74343430 74345971 2541 0
Sox2 hESGSE18292 74485440 74486339 899 0
TFAP2C MCF7GSE21234 74329911 74330431 520 0
TFAP2C MCF7GSE21234 74362284 74362684 400 0
TFAP2C MCF7GSE21234 74383902 74384398 496 0
TFAP2C MCF7GSE21234 74390468 74390841 373 0
hScc1 BcellGSE12603 74332209 74332464 255 0
hScc1 BcellGSE12603 74397398 74397921 523 0
hScc1 CdLSGSE12603 74397247 74397957 710 0
hScc1 CdLSGSE12603 74627048 74627652 604 0
hScc1 G2GSE9613 74397247 74397886 639 0
hScc1 G2GSE9613 74627119 74627584 465 0
p63 keratinocytesGSE17611 74344177 74345966 1789 0
p63 keratinocytesGSE17611 74453477 74454419 942 0
p63 keratinocytesGSE17611 74477377 74477842 465 0
p63 keratinocytesGSE17611 74548598 74549177 579 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-183 hsa-mir-183 7 20739942
hsa-miR-183* hsa-mir-183 7 20739942
No data
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
26584 mRNA TMC1 chr9 72366270 72680821 11400 EST chr9 72410414 72421814 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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