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ANKRD44-IT1 ANKRD44 intronic transcript 1 [ Homo sapiens (human) ]

Gene ID: 101927547, updated on 10-Oct-2023

Summary

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Official Symbol
ANKRD44-IT1provided by HGNC
Official Full Name
ANKRD44 intronic transcript 1provided by HGNC
Primary source
HGNC:HGNC:41477
See related
Ensembl:ENSG00000236977 AllianceGenome:HGNC:41477
Gene type
ncRNA
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Expression
Low expression observed in reference dataset See more
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Genomic context

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See ANKRD44-IT1 in Genome Data Viewer
Location:
2q33.1
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (197250858..197302519, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (197734590..197786250, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (198115582..198167243, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene ankyrin repeat domain 44 Neighboring gene ribosomal protein L4 pseudogene 7 Neighboring gene NANOG hESC enhancer GRCh37_chr2:198002142-198002725 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16916 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16917 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:198051264-198052463 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16918 Neighboring gene ANKRD44 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16919 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16920 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12208 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16921 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr2:198120663-198121319 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16922 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16923 Neighboring gene ATP5MC2 pseudogene 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16924 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16925 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12209 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16926 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16927 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16928 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16929 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16930 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16931 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:198174355-198174856 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12210 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12211 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12212 Neighboring gene ANKRD44 divergent transcript Neighboring gene nucleophosmin 1 pseudogene 46

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Genome-wide survival analysis of age at onset of alcohol dependence in extended high-risk COGA families. Kapoor M, et al. Drug Alcohol Depend, 2014 Sep 1. PMID 24962325, Free PMC Article
  2. Genetic analysis of the pathogenic molecular sub-phenotype interferon-alpha identifies multiple novel loci involved in systemic lupus erythematosus. Kariuki SN, et al. Genes Immun, 2015 Jan-Feb. PMID 25338677, Free PMC Article
  3. Toward a complete human genome sequence. Sanger Center, et al. Genome Res, 1998 Nov. PMID 9847074
  4. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, Free PMC Article

GeneRIFs: Gene References Into Functions

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genetic analysis of the pathogenic molecular sub-phenotype interferon-alpha identifies multiple novel loci involved in systemic lupus erythematosus.
EBI GWAS Catalog
Genome-wide survival analysis of age at onset of alcohol dependence in extended high-risk COGA families.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

General gene information

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Other Names

  • ANKRD44 intronic transcript 1 (non-protein coding)

Clone Names

  • AC010746.2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

RNA

  1. NR_046837.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC010746, AC074092
    Related
    ENST00000428191.1

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    197250858..197302519 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    197734590..197786250 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

Gene LinkOut

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Molecular Biology Databases