Free for academic non-profit institutions. Other users need a Commercial license

Aliases for GTF2IP1 Gene

Aliases for GTF2IP1 Gene

  • General Transcription Factor IIi Pseudogene 1 2 3 5
  • General Transcription Factor II, I, Pseudogene 1 2
  • Williams-Beuren Syndrome Chromosome Region 7 3
  • WBSCR7 3

External Ids for GTF2IP1 Gene

Previous HGNC Symbols for GTF2IP1 Gene

  • WBSCR7

Previous GeneCards Identifiers for GTF2IP1 Gene

  • GC07P071209
  • GC07P071967
  • GC07P071981
  • GC07M074013
  • GC07M074045
  • GC07M074239
  • GC07M074601

Summaries for GTF2IP1 Gene

GeneCards Summary for GTF2IP1 Gene

GTF2IP1 (General Transcription Factor IIi Pseudogene 1) is a Pseudogene. Diseases associated with GTF2IP1 include Williams-Beuren Syndrome.

Additional gene information for GTF2IP1 Gene

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GTF2IP1 Gene

Genomics for GTF2IP1 Gene

GeneHancer (GH) Regulatory Elements for GTF2IP1 Gene

Promoters and enhancers for GTF2IP1 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH07J075236 Promoter 0.5 Ensembl 600.7 +0.6 604 4.2 ENSG00000275121 GTF2IP1 ENSG00000263081
GH07J075737 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 4.6 -502.0 -501996 4.2 ZFX SP1 ELF3 CC2D1A ZNF148 NKRF MLLT1 ZNF121 CEBPG GTF2F1 GC07M075740 HIP1 GC07M075738 STAG3L1 POMZP3 ENSG00000205485 PMS2P3 SPDYE5 GTF2IP1 CCL26
GH07J075943 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 4.8 -707.1 -707096 5.2 ELF3 CEBPG BACH1 SP1 PPARG ZNF644 SMARCA4 FOSL2 RXRA RFX1 SNORA14A GC07P075946 GC07P075945 POR CCL24 ZP3 RHBDD2 GTF2IP1 TMEM120A GC07P075817
GH07J075931 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 4.4 -698.0 -697997 8.2 ZKSCAN8 CBFA2T2 MLLT1 ZNF121 CEBPG GTF2F1 ZNF384 CDC5L BACH1 MCM2 PMS2P3 STAG3L1 NSUN5P1 POR GTF2IRD2B ENSG00000205485 SPDYE5 POMZP3 RHBDD2 STYXL1
GH07J075950 Enhancer 1.3 FANTOM5 ENCODE dbSUPER 4.8 -713.3 -713310 1.9 MAFK SP1 FOSL2 CREB1 ZBTB33 RFX1 CEBPA CTBP1 GTF2F1 ZNF316 POR CCL26 SRRM3 MDH2 RHBDD2 GTF2IP1 TMEM120A GC07P075946 SNORA14A GC07P075817
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GTF2IP1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the GTF2IP1 gene promoter:
  • c-Myb
  • FOXJ2
  • FOXJ2 (long isoform)
  • FOXL1
  • GATA-3
  • LUN-1
  • NF-kappaB1
  • Pax-2
  • Pax-2a
  • SRY

Genomic Locations for GTF2IP1 Gene

Genomic Locations for GTF2IP1 Gene
52,323 bases
Minus strand
52,342 bases
Minus strand

Genomic View for GTF2IP1 Gene

Genes around GTF2IP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GTF2IP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GTF2IP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GTF2IP1 Gene

Proteins for GTF2IP1 Gene

Post-translational modifications for GTF2IP1 Gene

No Post-translational modifications

No data available for DME Specific Peptides for GTF2IP1 Gene

Domains & Families for GTF2IP1 Gene

Graphical View of Domain Structure for InterPro Entry

No data available for Gene Families , Protein Domains , Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for GTF2IP1 Gene

Function for GTF2IP1 Gene

Molecular function for GTF2IP1 Gene

GENATLAS Biochemistry:
general transcription factor 2I,pseudogene 1,not deleted in Williams-Beuren syndrome

Phenotypes From GWAS Catalog for GTF2IP1 Gene

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Phenotypes , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for GTF2IP1 Gene

Localization for GTF2IP1 Gene

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from COMPARTMENTS , Subcellular locations from the Human Protein Atlas (HPA) and Gene Ontology (GO) - Cellular Components for GTF2IP1 Gene

Pathways & Interactions for GTF2IP1 Gene

PathCards logo

SuperPathways for GTF2IP1 Gene

No Data Available

Interacting Proteins for GTF2IP1 Gene

Gene Ontology (GO) - Biological Process for GTF2IP1 Gene


No data available for Pathways by source and SIGNOR curated interactions for GTF2IP1 Gene

Drugs & Compounds for GTF2IP1 Gene

No Compound Related Data Available

Transcripts for GTF2IP1 Gene

mRNA/cDNA for GTF2IP1 Gene

Unigene Clusters for GTF2IP1 Gene

General transcription factor IIi, pseudogene 1:
Representative Sequences:

CRISPR Products

Alternative Splicing Database (ASD) splice patterns (SP) for GTF2IP1 Gene

No ASD Table

Relevant External Links for GTF2IP1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for GTF2IP1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for GTF2IP1 Gene

NURSA nuclear receptor signaling pathways regulating expression of GTF2IP1 Gene:


SOURCE GeneReport for Unigene cluster for GTF2IP1 Gene:

genes like me logo Genes that share expression patterns with GTF2IP1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for GTF2IP1 Gene

Orthologs for GTF2IP1 Gene

Evolution for GTF2IP1 Gene

Gene Tree for GTF2IP1 (if available)
Gene Tree for GTF2IP1 (if available)

No data available for Orthologs for GTF2IP1 Gene

Paralogs for GTF2IP1 Gene

No data available for Paralogs for GTF2IP1 Gene

Variants for GTF2IP1 Gene

Sequence variations from dbSNP and Humsavar for GTF2IP1 Gene

SNP ID Clin Chr 07 pos Variation AA Info Type
rs113965648 -- 75,205,005(-) AAAAAA/AAAAA/AAAAAAA intron_variant
rs1156244934 -- 75,207,758(-) C/T intron_variant
rs1156356974 -- 75,210,611(-) A/G intron_variant
rs1156678979 -- 75,215,698(-) G/A intron_variant
rs1156828552 -- 75,231,210(-) T/C intron_variant

Structural Variations from Database of Genomic Variants (DGV) for GTF2IP1 Gene

Variant ID Type Subtype PubMed ID
dgv3594n106 CNV deletion 24896259
esv2759537 CNV gain+loss 17122850
esv2764061 CNV gain+loss 21179565
esv3362186 CNV duplication 20981092
esv34349 CNV gain 17911159
esv3613678 CNV loss 21293372
nsv1023115 CNV gain 25217958
nsv1029162 CNV loss 25217958
nsv1074517 CNV deletion 25765185
nsv1124969 CNV duplication 24896259
nsv1126794 CNV deletion 24896259
nsv1161563 CNV deletion 26073780
nsv428171 CNV gain 18775914
nsv520573 CNV gain+loss 19592680
nsv528969 CNV gain 19592680
nsv8137 CNV gain 18304495
nsv8138 CNV loss 18304495
nsv8150 CNV loss 18304495
nsv8151 CNV gain 18304495
nsv831025 CNV loss 17160897
nsv831027 CNV loss 17160897
nsv831034 CNV loss 17160897
nsv950547 CNV deletion 24416366
nsv967334 CNV duplication 23825009
nsv970529 CNV duplication 23825009
nsv970530 CNV duplication 23825009
nsv970535 CNV duplication 23825009
nsv970883 CNV duplication 23825009
nsv970884 CNV duplication 23825009
nsv970885 CNV duplication 23825009
nsv971392 CNV duplication 23825009
nsv971393 CNV duplication 23825009
nsv971397 CNV duplication 23825009
nsv981524 CNV duplication 23825009
nsv981525 CNV duplication 23825009
nsv981526 CNV duplication 23825009

Additional Variant Information for GTF2IP1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Variation tolerance for GTF2IP1 Gene

Disorders for GTF2IP1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for GTF2IP1 Gene - From: GeneCards

Disorder Aliases PubMed IDs
williams-beuren syndrome
  • wbs
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for GTF2IP1

genes like me logo Genes that share disorders with GTF2IP1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for GTF2IP1 Gene

Publications for GTF2IP1 Gene

  1. A duplicated gene in the breakpoint regions of the 7q11.23 Williams-Beuren syndrome deletion encodes the initiator binding protein TFII-I and BAP-135, a phosphorylation target of BTK. (PMID: 9466987) Pérez Jurado LA … Francke U (Human molecular genetics 1998) 2 3 58
  2. Transcriptional fates of human-specific segmental duplications in brain. (PMID: 30228200) Dougherty ML … Eichler EE (Genome research 2018) 3 58
  3. Genome-wide CRISPR screen identifies HNRNPL as a prostate cancer dependency regulating RNA splicing. (PMID: 28611215) Fei T … Brown M (Proceedings of the National Academy of Sciences of the United States of America 2017) 3 58
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 58
  5. Lineage-specific gene duplication and loss in human and great ape evolution. (PMID: 15252450) Fortna A … Sikela JM (PLoS biology 2004) 3 58

Products for GTF2IP1 Gene

Sources for GTF2IP1 Gene

Loading form....