Basic Information Ensembl ID ENSG00000183474        Symbol GTF2H2C Description general transcription factor IIH, polypeptide 2C [Source:HGNC Symbol;Acc:31394] Status KNOWN Biotype protein_coding   Origination Transcript ENST00000512736 (branch 0)ENST00000503604 (branch 0)ENST00000507595 (branch 0)ENST00000446221 (branch 0)ENST00000508344 (branch 0)ENST00000380729 (branch 0)ENST00000510979 (branch 0)ENST00000506129 (branch 0)ENST00000502619 (branch 0)ENST00000514069 (branch 0)ENST00000514162 (branch 2)ENST00000502599 (branch 2)ENST00000511629 (branch 2)ENST00000508325 (branch 2)ENST00000513959 (branch 4)ENST00000505737 (branch 5) Peptide ENSP00000423952 Location chr5:68856121-68888687    Branch 0 Branch View Paralogues Gene ENSG00000145736 (GTF2H2) Origination Type NA Paralogous Alignment ? Alignment Details Focal Gene Fraction Paralogues Gene Fraction E-value Bit Score Identity 100% 100% 0.0 817 99.24%   Selection Population Genomics Analysis Transcript Observed # of Nonsynonymous Substitution Observed # of Synonymous Substitution   q   ENST00000514162 3 0 0.62   Phenotype Association GWAS Studies NA   Functional Genomics Transcriptome Profile Proteomic Profile NA   Cross reference Phylostratigraphy ProteinHistorian Literature Description Branch Literature child gene of human-specific segmental duplications 13 Dennis et al., 2017 Homo 13 Florio et al., 2018

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