AutismKB 2.0

Annotation Detail for MTRR


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Basic Information Top
Gene Symbol:MTRR ( MGC129643,MSR,cblE )
Gene Full Name: 5-methyltetrahydrofolate-homocysteine methyltransferase reductase
Band: 5p15.31
Quick LinksEntrez ID:4552; OMIM: 602568; Uniprot ID:MTRR_HUMAN; ENSEMBL ID: ENSG00000124275; HGNC ID: 7473
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
No data
No data
Location(AA) Modification Resource
85O-linkedHMM predict
89O-linkedHMM predict
105N-linkedHMM predict
198Phosphoserine(MAPK)HMM predict
242N-linkedHMM predict
245N-linkedHMM predict
276Phosphotyrosine(Jak)HMM predict
295O-linkedHMM predict
349Phosphoserine(CK1)HMM predict
349Phosphoserine(IKK)HMM predict
420Phosphoserine(CK2)HMM predict
466Phosphoserine(MAPK)HMM predict
481Phosphoserine(IKK)HMM predict
550Phosphoserine(CDC2)HMM predict
550O-linkedHMM predict
675Phosphotyrosine(INSR)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_002454
  • Location:chr5 7922274-7954232
  • strand:+
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Oct1 HelaGSE14283 7957674 7957763 89 3486
Oct1 HelaGSE14283 7968319 7968355 36 14105
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 7940259 7940568 309 0
CTCF CD4SISSRdata 7940259 7940568 309 0
CTCF G2GSE9613 7921774 7922885 1111 0
CTCF G2GSE9613 7940033 7940602 569 0
CTCF G2GSE9613 7949963 7950496 533 0
FOXA1 MCF7GSE15244 7931044 7932085 1041 0
H3K4me3 colorectalcancer 7922992 7923505 513 0
H3ac HepG2E 7922808 7924119 1311 0
PHF8 HeLaGSE20725 7921174 7923436 2262 0
TFAP2C MCF7GSE21234 7931368 7932106 738 0
hScc1 CdLSGSE12603 7940000 7940705 705 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-let-7b hsa-let-7b 22 18668040
hsa-let-7b* hsa-let-7b 22 18668040
hsa-miR-1 hsa-mir-1-2 18 18668040
hsa-miR-1 hsa-mir-1-1 20 18668040
hsa-miR-155 hsa-mir-155 21 18668040
hsa-miR-155* hsa-mir-155 21 18668040
hsa-miR-16 hsa-mir-16-1 13 18668040
hsa-miR-16 hsa-mir-16-2 3 18668040
hsa-miR-30a hsa-mir-30a 6 18668040
hsa-miR-30a* hsa-mir-30a 6 18668040
hsa-miR-30b hsa-mir-30b 8 18668040
hsa-miR-30b* hsa-mir-30b 8 18668040
hsa-miR-30c hsa-mir-30c-2 6 18668040
hsa-miR-30c hsa-mir-30c-1 1 18668040
hsa-miR-30c-1* hsa-mir-30c-1 1 18668040
hsa-miR-30c-2* hsa-mir-30c-2 6 18668040
hsa-miR-30d hsa-mir-30d 8 18668040
hsa-miR-30d* hsa-mir-30d 8 18668040
hsa-miR-30e hsa-mir-30e 1 18668040
hsa-miR-30e* hsa-mir-30e 1 18668040
ID in Tarbase Data Type Support Type miRNA Gene Direct Support Publication
874 Unknown pSILAC let-7b MTRR down 50-25% 18668040
Ensembl Protein Type Differentially expressed in Pathology or Event Mis Regulation Gene Expression Tumour Involvement
ENSG00000124275 n_a n_a n_a "epithelium, lymphocyte, muscle cell" "benign tumour, malignant tumour, carcinoma, leukaemia, sarcoma"
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