AutismKB 2.0

Annotation Detail for ALDH1L1


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Basic Information Top
Gene Symbol:ALDH1L1 ( 10-fTHF,DKFZp781N0997,FTHFD )
Gene Full Name: aldehyde dehydrogenase 1 family, member L1
Band: 3q21.3
Quick LinksEntrez ID:10840; OMIM: 600249; Uniprot ID:FTHFD_HUMAN; ENSEMBL ID: ENSG00000144908; HGNC ID: 3978
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
No data
No data
Location(AA) Modification Resource
120N-linkedHMM predict
200Phosphotyrosine(INSR)HMM predict
246N-linkedHMM predict
250N-linkedHMM predict
379Phosphotyrosine(SRC)HMM predict
439O-linkedHMM predict
443N-linkedHMM predict
555N-linkedHMM predict
602Phosphothreonine(MAPK)HMM predict
602Phosphothreonine(CDK)HMM predict
631Phosphoserine(IKK)HMM predict
678Phosphoserine(CDC2)HMM predict
828N-linkedHMM predict
864N-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_012190
  • Location:chr3 127305097-127382174
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 127399872 127400055 183 17789
CTCF CD4SISSRdata 127399872 127400055 183 17789
CTCF G2GSE9613 127387876 127388710 834 6119
CTCF G2GSE9613 127399886 127400251 365 17894
Fos K562GSE19551 127399398 127399797 399 17423
Rb QuiescentGSE19898 127384391 127384523 132 2283
hScc1 BcellGSE12603 127388017 127388444 427 6056
hScc1 CdLSGSE12603 127399780 127400292 512 17862
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 127299195 127299614 419 5693
CTCF G2GSE9613 127302564 127303767 1203 1932
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 127335683 127335988 305 0
CTCF CD4SISSRdata 127335683 127335988 305 0
CTCF G2GSE9613 127304455 127306546 2091 0
CTCF G2GSE9613 127307428 127307746 318 0
CTCF G2GSE9613 127309858 127310389 531 0
CTCF G2GSE9613 127311399 127311703 304 0
CTCF G2GSE9613 127314516 127315373 857 0
CTCF G2GSE9613 127316444 127316755 311 0
CTCF G2GSE9613 127319314 127319580 266 0
CTCF G2GSE9613 127325616 127326233 617 0
CTCF G2GSE9613 127326594 127328213 1619 0
CTCF G2GSE9613 127330086 127330371 285 0
CTCF G2GSE9613 127332851 127333204 353 0
CTCF G2GSE9613 127333625 127333993 368 0
CTCF G2GSE9613 127334319 127334587 268 0
CTCF G2GSE9613 127335644 127336957 1313 0
CTCF G2GSE9613 127348970 127350083 1113 0
CTCF G2GSE9613 127350962 127352042 1080 0
CTCF G2GSE9613 127355400 127355689 289 0
CTCF G2GSE9613 127356552 127356721 169 0
CTCF G2GSE9613 127360220 127360443 223 0
CTCF G2GSE9613 127361068 127361344 276 0
CTCF G2GSE9613 127362350 127362561 211 0
ER Fulvestrant-MCF7GSE14664 127372121 127372162 41 0
ER MCF7GSE19013 127331478 127332153 675 0
FOXA1 MCF7GSE15244 127318365 127318540 175 0
Fos K562GSE19551 127357975 127358529 554 0
H3K27me3 colorectalcancer 127381281 127381804 523 0
KLF4 hESGSE17917 127325713 127325870 157 0
Myc K562GSE19551 127335706 127336116 410 0
NRSF JurkatSISSRdata 127340526 127340747 221 0
Oct1 HelaGSE14283 127377494 127377524 30 0
RARG MCF7GSE15244 127330890 127331712 822 0
TFAP2C MCF7GSE21234 127330882 127332063 1181 0
hScc1 BcellGSE12603 127306617 127307746 1129 0
hScc1 BcellGSE12603 127316044 127316258 214 0
hScc1 BcellGSE12603 127319314 127319766 452 0
hScc1 BcellGSE12603 127327477 127327999 522 0
hScc1 BcellGSE12603 127335644 127336351 707 0
hScc1 BcellGSE12603 127350011 127350154 143 0
hScc1 CdLSGSE12603 127335644 127336272 628 0
hScc1 G2GSE9613 127314696 127315061 365 0
hScc1 G2GSE9613 127335644 127336871 1227 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
18623 mRNA chr3 127382034 127411707 51 mRNA ALDH1L1 chr3 127305105 127382183Sense/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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