AutismKB 2.0

Annotation Detail for ALAS1


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Basic Information Top
Gene Symbol:ALAS1 ( ALAS,ALAS3,ALASH,MIG4 )
Gene Full Name: aminolevulinate, delta-, synthase 1
Band: 3p21.2
Quick LinksEntrez ID:211; OMIM: 125290; Uniprot ID:HEM1_HUMAN; ENSEMBL ID: ENSG00000023330; HGNC ID: 396
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
445N6-(pyridoxal phosphate)lysine
Location(AA) Modifications Resource
Location(AA) Modification Resource
49Phosphoserine(PKG)HMM predict
78Phosphothreonine(MAPK)HMM predict
78O-linkedHMM predict
82Phosphoserine(ATM)HMM predict
85Phosphoserine(IKK)HMM predict
101O-linkedHMM predict
104O-linkedHMM predict
152O-linkedHMM predict
236Phosphoserine(CK1)HMM predict
246Phosphoserine(PKA)HMM predict
253Phosphotyrosine(INSR)HMM predict
253Phosphotyrosine(Syk)HMM predict
282N-linkedHMM predict
316N-linkedHMM predict
422MethylarginineHMM predict
554Phosphotyrosine(EGFR)HMM predict
575O-linkedHMM predict
575Phosphothreonine(MAPK)HMM predict
627Phosphoserine(PKB)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_000688
  • Location:chr3 52207183-52223382
  • strand:+
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 52224469 52224804 335 1254
FOXA1 MCF7GSE15244 52225838 52226277 439 2675
RARA MCF7GSE15244 52225659 52226277 618 2586
RARG MCF7GSE15244 52225596 52226244 648 2538
Rb GrowingGSE19898 52225683 52225816 133 2367
hScc1 BcellGSE12603 52224538 52224988 450 1381
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ER Fulvestrant-MCF7GSE14664 52212284 52212316 32 0
FOXA1 MCF7GSE15244 52213470 52214044 574 0
FOXA1 MCF7GSE15244 52220205 52220718 513 0
FoxA1 MCF7MACSdata 52213489 52213649 160 0
H3K4me3 colorectalcancer 52207462 52208840 1378 0
H3ac HepG2E 52207362 52208840 1478 0
NFkBII GM15510GSE19485 52206499 52207942 1443 0
Oct1 H2O2-HelaGSE14283 52212284 52212318 34 0
Oct1 HelaGSE14283 52212284 52212319 35 0
Oct1 HelaGSE14283 52216852 52216911 59 0
PHF8 HeLaGSE20725 52206645 52207886 1241 0
RARA MCF7GSE15244 52219052 52219347 295 0
RARG MCF7GSE15244 52207925 52208440 515 0
hScc1 CdLSGSE12603 52206872 52207737 865 0
p130 SenescentGSE19898 52223079 52223244 165 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-1 hsa-mir-1-2 18 19440340
hsa-miR-1 hsa-mir-1-1 20 19440340
hsa-miR-107 hsa-mir-107 10 19440340
hsa-miR-133a hsa-mir-133a-1 18 19440340
hsa-miR-133a hsa-mir-133a-2 20 19440340
hsa-miR-133b hsa-mir-133b 6 19440340
hsa-miR-181a hsa-mir-181a-2 9 19440340
hsa-miR-181a hsa-mir-181a-1 1 19440340
hsa-miR-181a* hsa-mir-181a-1 1 19440340
hsa-miR-181a-2* hsa-mir-181a-2 9 19440340
hsa-miR-181b hsa-mir-181b-1 1 19440340
hsa-miR-181b hsa-mir-181b-2 9 19440340
hsa-miR-181c hsa-mir-181c 19 19440340
hsa-miR-181c* hsa-mir-181c 19 19440340
hsa-miR-181d hsa-mir-181d 19 19440340
hsa-miR-23a hsa-mir-23a 19 19440340
hsa-miR-23a* hsa-mir-23a 19 19440340
hsa-miR-23b hsa-mir-23b 9 19440340
hsa-miR-23b* hsa-mir-23b 9 19440340
No data
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