AutismKB 2.0

Annotation Detail for MTMR14


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Basic Information Top
Gene Symbol:MTMR14 ( C3orf29,FLJ11546,FLJ22405,FLJ46453,FLJ90311 )
Gene Full Name: myotubularin related protein 14
Band: 3p25.3
Quick LinksEntrez ID:64419; OMIM: 611089; Uniprot ID:MTMRE_HUMAN; ENSEMBL ID: ENSG00000163719; HGNC ID: 26190
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
194N6-acetyllysine.
226N-linked (GlcNAc...) (Potential).
519N-linked (GlcNAc...) (Potential).
580Phosphoserine.
606Phosphoserine.
613Phosphoserine.
615Phosphothreonine.
624Phosphoserine.
Location(AA) Modifications Resource
226N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
519N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
12O-linkedHMM predict
12O-linkedHMM predict
15Phosphoserine(IKK)HMM predict
15O-linkedHMM predict
16O-linkedHMM predict
19Phosphoserine(IKK)HMM predict
19O-linkedHMM predict
19Phosphoserine(CK1)HMM predict
37Phosphoserine(CK1)HMM predict
97Phosphoserine(CK2)HMM predict
226N-linkedHMM predict
239Phosphotyrosine(EGFR)HMM predict
256MethyllysineHMM predict
259MethyllysineHMM predict
263Phosphotyrosine(INSR)HMM predict
276Phosphotyrosine(EGFR)HMM predict
384Phosphoserine(CK1)HMM predict
410Phosphothreonine(PKC)HMM predict
414MethyllysineHMM predict
415Phosphoserine(PKB)HMM predict
415Phosphoserine(PKA)HMM predict
415Phosphoserine(PKG)HMM predict
462Phosphotyrosine(EGFR)HMM predict
462Phosphotyrosine(SRC)HMM predict
483Phosphoserine(IKK)HMM predict
484Phosphoserine(CK1)HMM predict
485Phosphoserine(CDC2)HMM predict
512Phosphoserine(CK1)HMM predict
513O-linkedHMM predict
513O-linkedHMM predict
514Phosphoserine(CK1)HMM predict
514O-linkedHMM predict
515O-linkedHMM predict
516Phosphoserine(CK1)HMM predict
519N-linkedHMM predict
523N-linkedHMM predict
530Phosphoserine(CDC2)HMM predict
547Phosphoserine(IKK)HMM predict
548O-linkedHMM predict
624Phosphoserine(CDK)HMM predict
624Phosphoserine(CDC2)HMM predict
626O-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_001077525
  • Location:chr3 9666143-9719075
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
FOXA1 MCF7GSE15244 9665886 9666211 325 95
Fos K562GSE19551 9659344 9659825 481 6559
Fos K562GSE19551 9665775 9666342 567 85
FoxA1 MCF7MACSdata 9666000 9666189 189 49
P300 T0-glioblastomaGSE21026 9665744 9666384 640 80
PHF8 293TGSE20725 9665679 9666565 886 22
Rb QuiescentGSE19898 9665933 9666224 291 65
TFAP2C MCF7GSE21234 9665600 9666276 676 206
p130 QuiescentGSE19898 9666029 9666213 184 23
p130 SenescentGSE19898 9665832 9666032 200 212
p130 shRbQuiescentGSE19898 9665745 9666194 449 174
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 9666241 9666588 347 0
CTCF G2GSE9613 9685844 9686513 669 0
CTCF G2GSE9613 9694478 9694780 302 0
CTCF G2GSE9613 9697899 9698689 790 0
CTCF G2GSE9613 9705705 9705962 257 0
CTCF G2GSE9613 9711435 9711694 259 0
CTCF G2GSE9613 9714185 9714754 569 0
FOXA1 MCF7GSE15244 9711264 9711924 660 0
GABP k562GSE8489 9665886 9667349 1463 0
H3K4me3 colorectalcancer 9666328 9667349 1021 0
H3ac HepG2E 9666364 9667349 985 0
Myc hESGSE17917 9666035 9666374 339 0
Oct1 H2O2-HelaGSE14283 9667475 9667506 31 0
Oct1 HelaGSE14283 9667437 9667502 65 0
Oct1 HelaGSE14283 9704074 9704107 33 0
Oct1 HelaGSE14283 9704437 9704473 36 0
RARA MCF7GSE15244 9686383 9687789 1406 0
RARG MCF7GSE15244 9686420 9687827 1407 0
hScc1 G2GSE9613 9666096 9666759 663 0
p63 keratinocytesGSE17611 9717432 9718396 964 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