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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.

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

Regulatory Elements for GTF2IP1 Gene

Enhancers for GTF2IP1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH07G075943 1.8 FANTOM5 Ensembl ENCODE dbSUPER 4.8 -707.6 -707589 4.0 PKNOX1 ARID4B SIN3A BRCA1 YY1 FOS REST PPARG SSRP1 MAFF POR CCL24 ZP3 RHBDD2 GTF2IP1 SNORA14A GC07P075946 TMEM120A
GH07G075937 1.9 FANTOM5 Ensembl ENCODE dbSUPER 4.4 -700.7 -700695 2.2 HDGF PKNOX1 ATF1 CREB3L1 ARNT SIN3A TCF12 ZNF121 ZNF766 GATA2 POR POMZP3 STYXL1 RHBDD2 GTF2IP1 GC07P075945 RPL7L1P3
GH07G075950 1.7 FANTOM5 Ensembl ENCODE dbSUPER 4.8 -713.3 -713328 1.9 PKNOX1 SIN3A RAD21 YY1 EGR1 SCRT2 FOS RCOR1 ZNF263 HCFC1 POR CCL26 SRRM3 MDH2 RHBDD2 GTF2IP1 TMEM120A SNORA14A GC07P075946
GH07G075953 1.5 Ensembl ENCODE dbSUPER 4.1 -721.1 -721055 10.7 PKNOX1 FOXA2 MLX ARID4B DMAP1 GATA2 FOS PAF1 REST PPARG POR ZP3 CCL26 RHBDD2 CCL24 SRRM3 ENSG00000230882 UPK3B MDH2 GTF2IP1
GH07G075734 1.2 Ensembl ENCODE 4.3 -497.2 -497165 1.1 HDGF PKNOX1 ATF1 CREB3L1 ARNT ZFP64 FEZF1 TCF12 GTF3C2 ZNF766 NSUN5P1 STAG3L1 CCL26 YWHAG GTF2IP1 GC07M075738 GC07M075740 ENSG00000279996
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around GTF2IP1 on UCSC Golden Path with GeneCards custom track

Promoters for GTF2IP1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000213741 505 2001 ELF3 HDGF ATF1 MLX ARID4B DNMT3B RAD21 YY1 RARA GATA4

Genomic Location for GTF2IP1 Gene

Chromosome:
7
Start:
75,185,383 bp from pter
End:
75,237,705 bp from pter
Size:
52,323 bases
Orientation:
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

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 and Gene Ontology (GO) - Cellular Components for GTF2IP1 Gene

Pathways & Interactions for GTF2IP1 Gene

SuperPathways for GTF2IP1 Gene

No Data Available

Interacting Proteins for GTF2IP1 Gene

Gene Ontology (GO) - Biological Process for GTF2IP1 Gene

None

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

Transcripts for GTF2IP1 Gene

Unigene Clusters for GTF2IP1 Gene

General transcription factor IIi, pseudogene 1:
Representative Sequences:

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

No ASD Table

Relevant External Links for GTF2IP1 Gene

GeneLoc Exon Structure for
GTF2IP1
ECgene alternative splicing isoforms for
GTF2IP1

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:

GTF2IP1

SOURCE GeneReport for Unigene cluster for GTF2IP1 Gene:

Hs.654705
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

ENSEMBL:
Gene Tree for GTF2IP1 (if available)
TreeFam:
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 Sequence Context AA Info Type
rs111333827 -- 75,225,996(+) GCTAA(C/T)TTTTC intron-variant
rs112438073 -- 75,236,501(+) GAGAG(A/G)GAGTG intron-variant
rs11765056 -- 75,236,507(+) gagtg(A/T)gtgtg intron-variant
rs1635757 -- 75,238,253(+) TTCCA(A/G)GCTGC upstream-variant-2KB
rs1637161 -- 75,238,663(-) TGAAA(A/G)AGAGT upstream-variant-2KB

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

Relevant External Links for GTF2IP1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
GTF2IP1

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
  • fanconi schlesinger syndrome
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for GTF2IP1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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) Perez Jurado L.A. … Francke U. (Hum. Mol. Genet. 1998) 2 3 64
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 64
  3. Lineage-specific gene duplication and loss in human and great ape evolution. (PMID: 15252450) Fortna A. … Sikela J.M. (PLoS Biol. 2004) 3 64
  4. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 3 64

Products for GTF2IP1 Gene

Sources for GTF2IP1 Gene

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