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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
  • General Transcription Factor IIi, Pseudogene 1 3
  • 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 , 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

Promoters for GTF2IP1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around GTF2IP1 on UCSC Golden Path with GeneCards custom track

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

Drugs & Compounds for GTF2IP1 Gene

No Compound Related Data Available

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 for GTF2IP1 Gene

SOURCE GeneReport for Unigene cluster for GTF2IP1 Gene Hs.654705

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

Primer Products

In Situ Assay 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 , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners 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
rs231659 -- 75,238,207(+) TGCTA(C/G)GAACT upstream-variant-2KB
rs231672 -- 75,225,830(-) cctcc(C/T)cctcc intron-variant
rs1635757 -- 75,238,253(+) TTCCA(A/G)GCTGC upstream-variant-2KB
rs1637161 -- 75,238,663(-) TGAAA(A/G)AGAGT upstream-variant-2KB
rs1637162 -- 75,238,090(-) TTCTC(C/T)GCACT upstream-variant-2KB

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

Variant ID Type Subtype PubMed ID
dgv2095e1 CNV Complex 17122850
nsv520573 CNV Gain+Loss 19592680
esv34349 CNV Gain 17911159
dgv2098e1 CNV Complex 17122850
nsv428171 CNV Gain 18775914
dgv2099e1 CNV Complex 17122850
nsv888362 CNV Gain 21882294
nsv831025 CNV Loss 17160897
esv2734660 CNV Deletion 23290073
nsv8137 CNV Gain 18304495
nsv8138 CNV Loss 18304495
nsv831027 CNV Loss 17160897
dgv2100e1 CNV Complex 17122850
essv21300 CNV CNV 17122850
nsv888381 CNV Gain 21882294
nsv528969 CNV Gain 19592680
nsv831034 CNV Loss 17160897
nsv8150 CNV Loss 18304495
nsv8151 CNV Gain 18304495

Relevant External Links for GTF2IP1 Gene

HapMap Linkage Disequilibrium report
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 67
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3
  3. Lineage-specific gene duplication and loss in human and great ape evolution. (PMID: 15252450) Fortna A. … Sikela J.M. (PLoS Biol. 2004) 3
  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

Products for GTF2IP1 Gene

Sources for GTF2IP1 Gene

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