AutismKB 2.0

Annotation Detail for PTTG1IP


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Basic Information Top
Gene Symbol:PTTG1IP ( C21orf1,C21orf3,PBF )
Gene Full Name: pituitary tumor-transforming 1 interacting protein
Band: 21q22.3
Quick LinksEntrez ID:754; OMIM: 603784; Uniprot ID:PTTG_HUMAN; ENSEMBL ID: ENSG00000183255; HGNC ID: 13524
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
45N-linked (GlcNAc...) (Potential).
54N-linked (GlcNAc...) (Potential).
165Phosphotyrosine.
174Phosphotyrosine.
Location(AA) Modifications Resource
45N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
54N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
41Phosphoserine(ATM)HMM predict
45N-linkedHMM predict
54N-linkedHMM predict
118S-palmitoylHMM predict
119S-palmitoylHMM predict
120S-palmitoylHMM predict
126Phosphoserine(PKC)HMM predict
126Phosphoserine(PKG)HMM predict
174Phosphotyrosine(EGFR)HMM predict
174Phosphotyrosine(SRC)HMM predict
174Phosphotyrosine(Abl)HMM predict
174Phosphotyrosine(Syk)HMM predict
177PhenylalanineHMM predict
179PhenylalanineHMM predict
180AsparagineHMM predict
180PhenylalanineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_004339
  • Location:chr21 45093940-45118168
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
H3ac HepG2E 45119834 45120013 179 1755
Rb shRbQuiescentGSE19898 45121059 45121311 252 3017
TFAP2C MCF7GSE21234 45118836 45119334 498 917
hScc1 BcellGSE12603 45117345 45119071 1726 40
hScc1 CdLSGSE12603 45117674 45119327 1653 332
hScc1 CdLSGSE12603 45119834 45120083 249 1790
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
USF1 HepG2E 45078569 45079039 470 15137
hScc1 BcellGSE12603 45081262 45081691 429 12464
hScc1 BcellGSE12603 45091510 45092364 854 2004
hScc1 BcellGSE12603 45093469 45093811 342 301
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 45107371 45107746 375 0
ER MCF7GSE19013 45114282 45115034 752 0
FOXA1 MCF7GSE15244 45102330 45102585 255 0
FOXA1 MCF7GSE15244 45109409 45110514 1105 0
FOXA1 MCF7GSE15244 45116114 45117345 1231 0
Gata2 K562GSE18868 45097861 45099893 2032 0
H3K4me2 HCT116GSE10453 45115572 45117066 1494 0
H3K4me3 colorectalcancer 45116441 45117066 625 0
H3ac HepG2E 45114895 45117205 2310 0
PHF8 HeLaGSE20725 45117389 45118935 1546 0
RARA MCF7GSE15244 45102374 45102585 211 0
RARA MCF7GSE15244 45114895 45115572 677 0
RARA MCF7GSE15244 45116513 45117101 588 0
RARG MCF7GSE15244 45102374 45102585 211 0
RARG MCF7GSE15244 45114895 45115572 677 0
RARG MCF7GSE15244 45115970 45117101 1131 0
TFAP2C MCF7GSE21234 45102453 45103481 1028 0
TFAP2C MCF7GSE21234 45116169 45116726 557 0
hScc1 BcellGSE12603 45098125 45098681 556 0
hScc1 BcellGSE12603 45106927 45107746 819 0
hScc1 BcellGSE12603 45109952 45110487 535 0
p130 shRbSenescentGSE19898 45116233 45116494 261 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 15685193
hsa-miR-1 hsa-mir-1-1 20 15685193
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-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
376 Unknown MicroArray miR-124 PTTG1IP n_a 15685193
Ensembl Protein Type Differentially expressed in Pathology or Event Mis Regulation Gene Expression Tumour Involvement
ENSG00000183255 G1-to-S transition n_a n_a "epithelium, squamous cell, lymphoblast, lymphocyte, leukocyte, muscle cell" "benign tumour, malignant tumour, carcinoma, leukaemia, non-Hodgkin's, 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
17042 EST chr21 45093907 45094277 245 mRNA PTTG1IP chr21 45093940 45118169Sense/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