AutismKB 2.0

Annotation Detail for PRIM1


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Basic Information Top
Gene Symbol:PRIM1 ( MGC12308,p49 )
Gene Full Name: primase, DNA, polypeptide 1 (49kDa)
Band: 12q13.3
Quick LinksEntrez ID:5557; OMIM: 176635; Uniprot ID:PRI1_HUMAN; ENSEMBL ID: ENSG00000198056; HGNC ID: 9369
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
1N-acetylmethionine.
131Zinc knuckle motif.
Location(AA) Modifications Resource
Location(AA) Modification Resource
54Phosphotyrosine(INSR)HMM predict
54Phosphotyrosine(Jak)HMM predict
84Phosphotyrosine(Jak)HMM predict
115Phosphotyrosine(Syk)HMM predict
178Phosphoserine(PKG)HMM predict
361Phosphoserine(CK2)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_000946
  • Location:chr12 55411636-55432412
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 55437568 55437827 259 5285
CTCF CD4SISSRdata 55437568 55437827 259 5285
CTCF G2GSE9613 55437711 55437952 241 5419
hScc1 BcellGSE12603 55437711 55438023 312 5455
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ETS1 JurkatGSE17954 55431572 55432815 1243 0
H3ac HepG2E 55430028 55430453 425 0
H3ac HepG2E 55430825 55431332 507 0
H3ac HepG2E 55431641 55432114 473 0
Oct1 H2O2-HelaGSE14283 55428680 55428720 40 0
Oct1 HelaGSE14283 55428681 55428720 39 0
Rb GrowingGSE19898 55432057 55432466 409 0
Rb QuiescentGSE19898 55431916 55432632 716 0
Rb SenescentGSE19898 55431858 55432627 769 0
Rb shRbQuiescentGSE19898 55432101 55432557 456 0
Rb shRbSenescenceGSE19898 55431976 55432534 558 0
TAF HelaGSE8489 55430100 55430453 353 0
p130 QuiescentGSE19898 55432105 55432502 397 0
p130 SenescentGSE19898 55432083 55432552 469 0
p130 shRbSenescentGSE19898 55431980 55432650 670 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 18668040
hsa-miR-1 hsa-mir-1-1 20 18668040
hsa-miR-155 hsa-mir-155 21 18668040
hsa-miR-155* hsa-mir-155 21 18668040
hsa-miR-15a hsa-mir-15a 13 18362358
hsa-miR-15a* hsa-mir-15a 13 18362358
hsa-miR-16 hsa-mir-16-1 13 18362358
hsa-miR-16 hsa-mir-16-2 3 18362358
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 18362358
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
ID in Tarbase Data Type Support Type miRNA Gene Direct Support Publication
884 Unknown pSILAC let-7b PRIM1 down 50-25% 18668040
Ensembl Protein Type Differentially expressed in Pathology or Event Mis Regulation Gene Expression Tumour Involvement
ENSG00000198056 n_a n_a n_a lymphocyte "benign tumour, malignant tumour, carcinoma, leukaemia"
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
6149 EST chr12 55432211 55446324 123 mRNA PRIM1 chr12 55411632 55432413Sense/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