Trait Data and Analysis for ENSG00000244734

Hemoglobin, 2C beta

Details and Links

Group Human: GTEx_v8 group
Tissue Whole Blood mRNA
Gene Symbol HBB
Aliases Wikidata: beta-globin; CD113t-C; ECYT6
GeneNetwork: CD113t-C; beta-globin
Location Chr 11 @ 5.225464 Mb on the minus strand
Summary The alpha (HBA) and beta (HBB) loci determine the structure of the 2 types of polypeptide chains in adult hemoglobin, Hb A. The normal adult hemoglobin tetramer consists of two alpha chains and two beta chains. Mutant beta globin causes sickle cell anemia. Absence of beta chain causes beta-zero-thalassemia. Reduced amounts of detectable beta globin causes beta-plus-thalassemia. The order of the genes in the beta-globin cluster is 5'-epsilon -- gamma-G -- gamma-A -- delta -- beta--3'. [provided by RefSeq, Jul 2008]
Database GTEXv8 Human Whole Blood RNA-Seq (Feb20) TPM log2
GN2 Link: GTEXv8 Human Whole Blood RNA-Seq (Feb20) TPM log2
Resource Links Gene    OMIM    GeneMANIA    Protein Atlas    Rat Genome DB    GTEx Portal   
BioGPS    STRING    PANTHER    Gemma    ABA    EBI GWAS   

Statistics


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Calculate Correlations

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Mapping Tools

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GEMMA
Maps traits with correction for kinship among samples using a linear mixed model method, and also allows users to fit multiple covariates such as sex, age, treatment, and genetic markers (PMID: 2453419, and GitHub code). GEMMA incorporates the Leave One Chromosome Out (LOCO) method to ensure that the correction for kinship does not remove useful genetic variance near each marker. Markers can be filtered to include only those with minor allele frequencies (MAF) above a threshold. The default MAF is 0.05.
More information on R/qtl mapping models and methods can be found here.

Review and Edit Data

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  # read into R
  trait <- read.csv("ENSG00000244734.csv", header = TRUE, comment.char = "#")

  # read into python
  import pandas as pd
  trait = pd.read_csv("ENSG00000244734.csv", header = 0, comment = "#")

Samples


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