AutismKB 2.0

Annotation Detail for HMGA1


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Basic Information Top
Gene Symbol:HMGA1 ( HMG-R,HMGA1A,HMGIY,MGC12816,MGC4242,MGC4854 )
Gene Full Name: high mobility group AT-hook 1
Band: 6p21.31
Quick LinksEntrez ID:3159; OMIM: 600701; Uniprot ID:HMGA1_HUMAN; ENSEMBL ID: ENSG00000137309; HGNC ID: 5010
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
2N-acetylserine (By similarity).
15N6-acetyllysine.
26Asymmetric dimethylarginine; in isoform
26Omega-N-methylarginine; in isoform HMG-I;
26Symmetric dimethylarginine; in isoform
36Phosphoserine.
39Phosphothreonine.
44Phosphoserine.
49Phosphoserine.
53Phosphothreonine.
58Asymmetric dimethylarginine; by PRMT6;
58Omega-N-methylarginine; by PRMT6;
60Asymmetric dimethylarginine; by PRMT6;
60Omega-N-methylarginine; by PRMT6;
99Phosphoserine; in isoform HMG-I and
102Phosphoserine; by CK; in isoform HMG-I
103Phosphoserine; by CK; in isoform HMG-I
Location(AA) Modifications Resource
2N-acetylserine (By similarity).Swiss-Prot 53.0
26Asymmetric dimethylarginine; in isoformHMG-I; alternate.Swiss-Prot 53.0
26Omega-N-methylarginine; in isoform HMG-I;alternate.Swiss-Prot 53.0
26Symmetric dimethylarginine; in isoformHMG-I; alternate.Swiss-Prot 53.0
36Phosphoserine.Swiss-Prot 53.0
49Phosphoserine (By similarity).Swiss-Prot 53.0
52Phosphothreonine (CDK1)Phospho.ELM 6.0
53Phosphothreonine (By similarity).Swiss-Prot 53.0
77Phosphothreonine (CDK1)Phospho.ELM 6.0
98Phosphoserine (CK2
99Phosphoserine; in isoform HMG-I andisoform HMG-Y.Swiss-Prot 53.0
101Phosphoserine (CK2
102Phosphoserine; by CK; in isoform HMG-Iand isoform HMG-Y.Swiss-Prot 53.0
102Phosphoserine (CK2
103Phosphoserine; by CK; in isoform HMG-Iand isoform HMG-Y.Swiss-Prot 53.0
Location(AA) Modification Resource
6Phosphoserine(IKK)HMM predict
6Phosphoserine(CK1)HMM predict
9Phosphoserine(ATM)HMM predict
24MethylarginineHMM predict
26MethylarginineHMM predict
36Phosphoserine(CDC2)HMM predict
44Phosphoserine(ATM)HMM predict
49PhosphoserineHMM predict
53Phosphothreonine(CDK)HMM predict
53Phosphothreonine(CDC2)HMM predict
58MethylarginineHMM predict
72Phosphothreonine(PKC)HMM predict
75Phosphothreonine(PKA)HMM predict
75O-linkedHMM predict
78Phosphothreonine(MAPK)HMM predict
78Phosphothreonine(CDC2)HMM predict
78Phosphothreonine(CDK)HMM predict
84MethylarginineHMM predict
92LysineHMM predict
99Phosphoserine(ATM)HMM predict
102PhosphoserineHMM predict
102Phosphoserine(CK2)HMM predict
103Phosphoserine(IKK)HMM predict
103Phosphoserine(CK2)HMM predict
103Phosphoserine(CK1)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_002131
  • Location:chr6 34312627-34321984
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP T30-glioblastomaGSE21026 34299610 34300497 887 12574
CTCF G2GSE9613 34301433 34301615 182 11104
CTCF G2GSE9613 34302456 34303094 638 9853
CTCF G2GSE9613 34306421 34307008 587 5913
CTCF G2GSE9613 34310428 34311698 1270 1565
Fos K562GSE19551 34299620 34300354 734 12641
H3ac HepG2E 34295203 34295439 236 17307
H3ac HepG2E 34302345 34303094 749 9908
H3ac HepG2E 34304781 34305056 275 7709
H3ac HepG2E 34311870 34312329 459 528
Myc hESGSE17917 34311387 34311776 389 1046
Oct1 HelaGSE14283 34301578 34301615 37 11031
P300 T30-glioblastomaGSE21026 34299587 34300772 1185 12448
PHF8 293TGSE20725 34299562 34300525 963 12584
Pol2 GM12878GSE19551 34311423 34313193 1770 320
VDR GM10861-stimGSE22484 34311123 34313382 2259 375
hScc1 BcellGSE12603 34310683 34311555 872 1509
p130 SenescentGSE19898 34312197 34312536 339 261
p130 shRbSenescentGSE19898 34312339 34312750 411 83
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
hScc1 BcellGSE12603 34312408 34313056 648 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-let-7a hsa-let-7a-1 9 19217096
hsa-let-7a hsa-let-7a-2 11 19217096
hsa-let-7a hsa-let-7a-3 22 19217096
hsa-let-7a hsa-let-7a-1 9 19179606
hsa-let-7a hsa-let-7a-2 11 19179606
hsa-let-7a hsa-let-7a-3 22 19179606
hsa-let-7a* hsa-let-7a-1 9 19217096
hsa-let-7a* hsa-let-7a-3 22 19217096
hsa-let-7a* hsa-let-7a-1 9 19179606
hsa-let-7a* hsa-let-7a-3 22 19179606
hsa-let-7b hsa-let-7b 22 20228781
hsa-let-7b hsa-let-7b 22 19217096
hsa-let-7b hsa-let-7b 22 19179606
hsa-let-7b hsa-let-7b 22 18668040
hsa-let-7b* hsa-let-7b 22 20228781
hsa-let-7b* hsa-let-7b 22 19217096
hsa-let-7b* hsa-let-7b 22 19179606
hsa-let-7b* hsa-let-7b 22 18668040
hsa-let-7c hsa-let-7c 21 19217096
hsa-let-7c hsa-let-7c 21 19179606
hsa-let-7c* hsa-let-7c 21 19217096
hsa-let-7c* hsa-let-7c 21 19179606
hsa-let-7d hsa-let-7d 9 19217096
hsa-let-7d hsa-let-7d 9 19179606
hsa-let-7d* hsa-let-7d 9 19217096
hsa-let-7d* hsa-let-7d 9 19179606
hsa-let-7e hsa-let-7e 19 19217096
hsa-let-7e hsa-let-7e 19 19179606
hsa-let-7e* hsa-let-7e 19 19217096
hsa-let-7e* hsa-let-7e 19 19179606
hsa-let-7f hsa-let-7f-1 9 19217096
hsa-let-7f hsa-let-7f-2 X 19217096
hsa-let-7f hsa-let-7f-1 9 19179606
hsa-let-7f hsa-let-7f-2 X 19179606
hsa-let-7f-1* hsa-let-7f-1 9 19217096
hsa-let-7f-1* hsa-let-7f-1 9 19179606
hsa-let-7f-2* hsa-let-7f-2 X 19217096
hsa-let-7f-2* hsa-let-7f-2 X 19179606
hsa-let-7g hsa-let-7g 3 19217096
hsa-let-7g hsa-let-7g 3 19179606
hsa-let-7g* hsa-let-7g 3 19217096
hsa-let-7g* hsa-let-7g 3 19179606
hsa-let-7i hsa-let-7i 12 19217096
hsa-let-7i hsa-let-7i 12 19179606
hsa-let-7i* hsa-let-7i 12 19217096
hsa-let-7i* hsa-let-7i 12 19179606
hsa-miR-1 hsa-mir-1-2 18 18668040
hsa-miR-1 hsa-mir-1-1 20 18668040
hsa-miR-125b hsa-mir-125b-1 11 17563749
hsa-miR-125b hsa-mir-125b-2 21 17563749
hsa-miR-155 hsa-mir-155 21 18668040
hsa-miR-155* hsa-mir-155 21 18668040
hsa-miR-16 hsa-mir-16-1 13 19250063
hsa-miR-16 hsa-mir-16-2 3 19250063
hsa-miR-16 hsa-mir-16-1 13 18668040
hsa-miR-16 hsa-mir-16-2 3 18668040
hsa-miR-16-1* hsa-mir-16-1 13 19250063
hsa-miR-196a hsa-mir-196a-1 17 19169275
hsa-miR-196a hsa-mir-196a-2 12 19169275
hsa-miR-196a* hsa-mir-196a-2 12 19169275
hsa-miR-26a hsa-mir-26a-1 3 17563749
hsa-miR-26a hsa-mir-26a-2 12 17563749
hsa-miR-296-3p hsa-mir-296 20 21138859
hsa-miR-296-5p hsa-mir-296 20 21138859
hsa-miR-29a hsa-mir-29a 7 19169275
hsa-miR-29a* hsa-mir-29a 7 19169275
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 17563749
hsa-miR-30d hsa-mir-30d 8 18668040
hsa-miR-30d* hsa-mir-30d 8 17563749
hsa-miR-30d* hsa-mir-30d 8 18668040
hsa-miR-30e hsa-mir-30e 1 18668040
hsa-miR-30e* hsa-mir-30e 1 18668040
hsa-miR-331-3p hsa-mir-331 12 19169275
hsa-miR-331-5p hsa-mir-331 12 19169275
hsa-miR-370 hsa-mir-370 14 19179606
ID in Tarbase Data Type Support Type miRNA Gene Direct Support Publication
861 Unknown pSILAC let-7b HMGA1 down <25% 18668040
Ensembl Protein Type Differentially expressed in Pathology or Event Mis Regulation Gene Expression Tumour Involvement
ENSG00000137309 n_a n_a n_a "lymphoblast, lymphocyte, squamous cell, leukocyte, muscle cell" "malignant tumour, carcinoma, leukaemia, non-Hodgkin's, sarcoma, benign tumour"
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