AutismKB 2.0

Annotation Detail for IGFALS


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Basic Information Top
Gene Symbol:IGFALS ( ALS )
Gene Full Name: insulin-like growth factor binding protein, acid labile subunit
Band: 16p13.3
Quick LinksEntrez ID:3483; OMIM: 601489; Uniprot ID:ALS_HUMAN; ENSEMBL ID: ENSG00000099769; HGNC ID: 5468
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
64N-linked (GlcNAc...) (Potential).
85N-linked (GlcNAc...) (Potential).
96N-linked (GlcNAc...) (Potential).
368N-linked (GlcNAc...).
515N-linked (GlcNAc...).
580N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
64N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
85N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
96N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
368N-linked (GlcNAc...).Swiss-Prot 53.0
515N-linked (GlcNAc...).Swiss-Prot 53.0
580N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
32Phosphothreonine(MAPK)HMM predict
64N-linkedHMM predict
85N-linkedHMM predict
96N-linkedHMM predict
309PhosphothreonineHMM predict
515N-linkedHMM predict
516N-linkedHMM predict
554N-linkedHMM predict
580N-linkedHMM predict
582O-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_004970
  • Location:chr16 1780421-1783709
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 1784039 1784254 215 437
TFAP2C MCF7GSE21234 1784253 1784707 454 771
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP JurkatGSE17954 1780602 1781919 1317 0
CTCF G2GSE9613 1779748 1781094 1346 0
CTCF G2GSE9613 1782393 1782730 337 0
CTCF G2GSE9613 1783277 1783752 475 0
hScc1 BcellGSE12603 1783199 1783752 553 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-206 hsa-mir-206 6 20007902
hsa-miR-9 hsa-mir-9-1 1 20616011
hsa-miR-9 hsa-mir-9-2 5 20616011
hsa-miR-9 hsa-mir-9-3 15 20616011
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


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