AutismKB 2.0

Annotation Detail for PGM1


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Basic Information Top
Gene Symbol:PGM1 ( GSD14 )
Gene Full Name: phosphoglucomutase 1
Band: 1p31.3
Quick LinksEntrez ID:5236; OMIM: 171900; Uniprot ID:PGM1_HUMAN; ENSEMBL ID: ENSG00000079739; HGNC ID: 8905
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
16N6-acetyllysine.
115Phosphothreonine.
117Phosphoserine.
353Phosphotyrosine.
419N6-acetyllysine.
Location(AA) Modifications Resource
115Phosphothreonine (By similarity).Swiss-Prot 53.0
117Phosphoserine (By similarity).Swiss-Prot 53.0
466Phosphothreonine (PAK1)Phospho.ELM 6.0
Location(AA) Modification Resource
12Phosphotyrosine(Syk)HMM predict
66Phosphotyrosine(INSR)HMM predict
265N-linkedHMM predict
408Phosphoserine(PKC)HMM predict
408Phosphoserine(PKG)HMM predict
430SulfotyrosineHMM predict
476SulfotyrosineHMM predict
505Phosphoserine(CK2)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_002633
  • Location:chr1 63831534-63898501
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ER MCF7E 63830023 63830272 249 1387
H3K4me3 colorectalcancer 63830623 63831509 886 469
H3ac HepG2E 63830735 63831418 683 458
Oct1 H2O2-HelaGSE14283 63827564 63827610 46 3948
Oct1 HelaGSE14283 63827565 63827610 45 3947
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP T30-glioblastomaGSE21026 63912400 63913105 705 14251
CTCF HelaGSE12889 63912631 63912974 343 14301
CTCF G2GSE9613 63912562 63913148 586 14354
Fos K562GSE19551 63912624 63912963 339 14292
Jun K562GSE19551 63912668 63912968 300 14317
Nanog hESGSE18292 63904276 63904546 270 5910
Sox2 hESGSE18292 63904225 63904466 241 5844
hScc1 BcellGSE12603 63907662 63907902 240 9281
hScc1 BcellGSE12603 63912825 63913008 183 14415
hScc1 G2GSE9613 63912562 63913500 938 14530
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 63854103 63854497 394 0
CTCF CD4SISSRdata 63854103 63854497 394 0
CTCF G2GSE9613 63831570 63832168 598 0
ER Fulvestrant-MCF7GSE14664 63848824 63848858 34 0
Nanog hESGSE18292 63854232 63854444 212 0
Oct1 H2O2-HelaGSE14283 63839914 63839940 26 0
Oct1 HelaGSE14283 63875293 63875371 78 0
Stat6 IL-4-hr1GSE17850 63889316 63889995 679 0
hScc1 BcellGSE12603 63831509 63832600 1091 0
hScc1 CdLSGSE12603 63854206 63854805 599 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-let-7b hsa-let-7b 22 18668040
hsa-let-7b* hsa-let-7b 22 18668040
hsa-miR-1 hsa-mir-1-2 18 15685193
hsa-miR-1 hsa-mir-1-1 20 15685193
hsa-miR-1 hsa-mir-1-2 18 18668040
hsa-miR-1 hsa-mir-1-1 20 18668040
hsa-miR-124 hsa-mir-124-1 8 15685193
hsa-miR-124 hsa-mir-124-2 8 15685193
hsa-miR-124 hsa-mir-124-3 20 15685193
hsa-miR-155 hsa-mir-155 21 18668040
hsa-miR-155* hsa-mir-155 21 18668040
hsa-miR-16 hsa-mir-16-1 13 18668040
hsa-miR-16 hsa-mir-16-2 3 18668040
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 18668040
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-373 hsa-mir-373 19 15685193
hsa-miR-373* hsa-mir-373 19 15685193
ID in Tarbase Data Type Support Type miRNA Gene Direct Support Publication
320 Unknown MicroArray miR-124 PGM1 n_a 15685193
1262 Unknown pSILAC miR-30 PGM1 down 50-25% 18668040
Ensembl Protein Type Differentially expressed in Pathology or Event Mis Regulation Gene Expression Tumour Involvement
ENSG00000079739 G1-to-S transition n_a n_a "epithelium, lymphocyte, muscle cell" "benign tumour, malignant tumour, carcinoma, leukaemia, sarcoma"
ENSG00000079739 n_a n_a n_a "epithelium, lymphocyte, muscle cell" "benign tumour, malignant tumour, carcinoma, leukaemia, sarcoma"
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
903 mRNA PGM1 chr1 63770967 63837935 197 EST chr1 63667794 63771413Sense/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