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C1orf100 chromosome 1 open reading frame 100 [ Homo sapiens (human) ]

Gene ID: 200159, updated on 5-Nov-2022

Summary

Official Symbol
C1orf100provided by HGNC
Official Full Name
chromosome 1 open reading frame 100provided by HGNC
Primary source
HGNC:HGNC:30435
See related
Ensembl:ENSG00000173728 AllianceGenome:HGNC:30435
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Expression
Restricted expression toward testis (RPKM 3.4) See more
Orthologs
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Genomic context

See C1orf100 in Genome Data Viewer
Location:
1q44
Exon count:
7
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (244352635..244389663)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (243768961..243806036)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (244515937..244552965)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105373262 Neighboring gene Sharpr-MPRA regulatory regions 872 and 4511 Neighboring gene TGFB induced factor homeobox 2 pseudogene 1 Neighboring gene adenylosuccinate synthase 2 Neighboring gene catsper channel auxiliary subunit epsilon

Genomic regions, transcripts, and products

Expression

  • 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

Phenotypes

EBI GWAS Catalog

Description
Genome-wide association study of the age of onset of childhood asthma.
EBI GWAS Catalog
Genome-wide meta-analyses of smoking behaviors in African Americans.
EBI GWAS Catalog

General gene information

Markers

Homology

General protein information

Preferred Names
uncharacterized protein C1orf100

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.

mRNA and Protein(s)

  1. NM_001012970.3NP_001012988.1  uncharacterized protein C1orf100 isoform 1

    See identical proteins and their annotated locations for NP_001012988.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AL645465, BC054479, BX099227, HY055397
    Consensus CDS
    CCDS31079.1
    UniProtKB/Swiss-Prot
    Q5SVJ3, Q5SVJ4
    Related
    ENSP00000311218.4, ENST00000308105.5
  2. NM_001276348.2NP_001263277.1  uncharacterized protein C1orf100 isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice junction at the 5' end of an exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
    Source sequence(s)
    AL645465, BC054479
    Consensus CDS
    CCDS60465.1
    UniProtKB/Swiss-Prot
    Q5SVJ3
    Related
    ENSP00000355495.1, ENST00000366537.5
  3. NM_001276349.2NP_001263278.1  uncharacterized protein C1orf100 isoform 3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) lacks an alternate 3' exon compared to variant 1, that causes a frameshift. The resulting isoform (3) has a shorter and distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AL645465, BC054479, BX099227

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    244352635..244389663
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017000571.3XP_016856060.1  uncharacterized protein C1orf100 isoform X1

    Conserved Domains (1) summary
    pfam17670
    Location:15163
    DUF5530; Family of unknown function (DUF5530)
  2. XM_011544124.3XP_011542426.1  uncharacterized protein C1orf100 isoform X2

  3. XM_011544129.4XP_011542431.1  uncharacterized protein C1orf100 isoform X4

  4. XM_011544130.3XP_011542432.1  uncharacterized protein C1orf100 isoform X5

  5. XM_011544125.3XP_011542427.1  uncharacterized protein C1orf100 isoform X3

    See identical proteins and their annotated locations for XP_011542427.1

  6. XM_011544128.3XP_011542430.1  uncharacterized protein C1orf100 isoform X3

    See identical proteins and their annotated locations for XP_011542430.1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    243768961..243806036
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)