Basic Information Ensembl ID ENSG00000145736        Symbol GTF2H2 Description general transcription factor IIH, polypeptide 2, 44kDa [Source:HGNC Symbol;Acc:4656] Status KNOWN Biotype protein_coding   Origination Transcript ENST00000274400 (branch 12)ENST00000518275 (branch 12)ENST00000521602 (branch 12)ENST00000508592 (branch 12)ENST00000523693 (branch 12)ENST00000521858 (branch 12)ENST00000523003 (branch 12)ENST00000522654 (branch 12)ENST00000521942 (branch 12)ENST00000517900 (branch 12)ENST00000518898 (branch 12)ENST00000330280 (branch 12)ENST00000519783 (branch 12)ENST00000425596 (branch 12) Peptide ENSP00000473362 Location chr5:70357578-70363475    Branch 12 Branch View Paralogues Gene ENSG00000183474 (GTF2H2C) Origination Type DNA level Duplication Paralogous Alignment ? Alignment Details Focal Gene Fraction Paralogues Gene Fraction E-value Bit Score Identity 100% 100% 0.0 817 99.24% Paralogous Pairwise Estimation ? N S Ka Ks ω q? 898.6 286.4 0 0.004 0.935 0.73 Branch Test ? N S Ka Ks ω q? 473 154 0 0.006 1.0E-04 0.21   Selection Population Genomics Analysis Transcript Observed # of Nonsynonymous Substitution Observed # of Synonymous Substitution   q   ENST00000517900 5 1 0.7   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

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