AutismKB 2.0

Annotation Detail for MTHFR


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Basic Information Top
Gene Symbol:MTHFR ( - )
Gene Full Name: methylenetetrahydrofolate reductase (NAD(P)H)
Band: 1p36.22
Quick LinksEntrez ID:4524; OMIM: 607093; Uniprot ID:MTHR_HUMAN; ENSEMBL ID: ENSG00000177000; HGNC ID: 7436
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
No data
No data
Location(AA) Modification Resource
8N-linkedHMM predict
12N-linkedHMM predict
23O-linkedHMM predict
23Phosphoserine(CK2)HMM predict
26O-linkedHMM predict
30Phosphoserine(IKK)HMM predict
103Phosphoserine(CK2)HMM predict
272Phosphoserine(PKG)HMM predict
391N-linkedHMM predict
394Phosphoserine(CDC2)HMM predict
412Phosphoserine(CDK)HMM predict
412Phosphoserine(CDC2)HMM predict
426Phosphothreonine(CK2)HMM predict
427Phosphoserine(CK1)HMM predict
547N-linkedHMM predict
550N-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_005957
  • Location:chr1 11768373-11788701
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ETS1 JurkatGSE17954 11788200 11789302 1102 50
Rb QuiescentGSE19898 11788661 11788825 164 42
USF1 HepG2E 11787129 11790345 3216 36
USF2 HepG2E 11787129 11790345 3216 36
p130 QuiescentGSE19898 11788555 11788973 418 63
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 11767856 11768081 225 405
CTCF CD4SISSRdata 11767856 11768081 225 405
CTCF HelaGSE12889 11767738 11768209 471 400
CTCF G2GSE9613 11762410 11763604 1194 5367
CTCF G2GSE9613 11766810 11767304 494 1317
CTCF G2GSE9613 11767572 11768341 769 417
hScc1 BcellGSE12603 11761151 11761591 440 7003
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP T30-glioblastomaGSE21026 11773242 11774196 954 0
CTCF G2GSE9613 11770428 11770746 318 0
CTCF G2GSE9613 11776450 11776674 224 0
CTCF G2GSE9613 11787129 11787486 357 0
CTCF G2GSE9613 11788049 11788831 782 0
ER MCF7GSE19013 11770731 11771112 381 0
Fos K562GSE19551 11773400 11774010 610 0
Fos K562GSE19551 11787057 11789380 2323 0
GABP k562GSE8489 11784792 11785427 635 0
H3K4me2 HCT116GSE10453 11786388 11786684 296 0
H3K4me2 HCT116GSE10453 11787129 11787827 698 0
H3ac HepG2E 11786504 11786684 180 0
H3ac HepG2E 11787129 11787932 803 0
HIF1 HypoHepG2 11788184 11789027 843 0
P300 T0-glioblastomaGSE21026 11773224 11773964 740 0
P300 T30-glioblastomaGSE21026 11773201 11774312 1111 0
RARA MCF7GSE15244 11785069 11786684 1615 0
RARA MCF7GSE15244 11787129 11788006 877 0
Rb GrowingGSE19898 11786373 11786567 194 0
Rb QuiescentGSE19898 11788322 11788529 207 0
Rb SenescentGSE19898 11786402 11786564 162 0
Rb SenescentGSE19898 11788206 11788804 598 0
TAF k562GSE8489 11783927 11784109 182 0
TAF k562GSE8489 11784608 11785427 819 0
TAF k562GSE8489 11786463 11786684 221 0
TAF k562GSE8489 11787129 11787452 323 0
TFAP2C MCF7GSE21234 11769964 11770682 718 0
TFAP2C MCF7GSE21234 11773334 11774242 908 0
TFAP2C MCF7GSE21234 11776939 11777440 501 0
TFAP2C MCF7GSE21234 11785209 11786598 1389 0
TFAP2C MCF7GSE21234 11788080 11788774 694 0
hScc1 BcellGSE12603 11788513 11788831 318 0
p130 QuiescentGSE19898 11773476 11773801 325 0
p130 QuiescentGSE19898 11786494 11786695 201 0
p130 SenescentGSE19898 11773435 11773844 409 0
p130 SenescentGSE19898 11786188 11786687 499 0
p130 SenescentGSE19898 11788225 11788379 154 0
p130 shRbQuiescentGSE19898 11773233 11773599 366 0
p130 shRbQuiescentGSE19898 11787940 11788748 808 0
p130 shRbSenescentGSE19898 11773869 11774122 253 0
p130 shRbSenescentGSE19898 11786246 11786678 432 0
p130 shRbSenescentGSE19898 11788184 11789033 849 0
p130 SGSE7516 11775219 11775422 203 0
Validated miRNA targets Top
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
202 mRNA CLCN6 chr1 11800559 11837451 113 mRNA MTHFR chr1 11797350 11801243Sense/Antisense (SA) 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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