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Human Gene Set: HP_ABNORMAL_CHROMOSOME_MORPHOLOGY
Standard name
HP_ABNORMAL_CHROMOSOME_MORPHOLOGY
Systematic name
M50021
Brief description
Abnormal chromosome morphology
Full description or abstract
Any structural anomaly of a chromosome, which is a thread like molecule consisting of DNA and proteins (chromatin) that contains DNA sequences for genes and other genetic elements in linear order. []
Collection
C5: Ontology
HPO: Human Phenotype Ontology
Source publication
Exact source
HP:0031411
Related gene sets
External links
https://hpo.jax.org/app/browse/term/HP:0031411
Filtered by similarity
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Source species
Homo sapiens
Contributed by
Human Phenotype Ontology Group (The Jackson Laboratory (JAX))
Source platform or
identifier namespace
Human_NCBI_Gene_ID
Dataset references
Download gene set
format:
grp
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gmt
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xml
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json
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TSV metadata
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H: Hallmark
C1: Positional
C2: Curated
CGP: Chemical and Genetic Perturbations
CP: Canonical Pathways
CP:BIOCARTA: BioCarta Pathways
CP:KEGG_MEDICUS: KEGG Medicus Pathways
CP:PID: PID Pathways
CP:REACTOME: Reactome Pathways
CP:WIKIPATHWAYS: WikiPathways
CP:KEGG_LEGACY: KEGG Legacy Pathways
C3: Regulatory Target
MIR: microRNA Targets
MIR:MIRDB: miRDB
MIR:MIR_LEGACY: MIR_Legacy
TFT: Transcription Factor Targets
TFT:GTRD: GTRD
TFT:TFT_LEGACY: TFT_Legacy
C4: Computational
3CA: Curated Cancer Cell Atlas gene sets
CGN: Cancer Gene Neighborhoods
CM: Cancer Modules
C5: Ontology
GO: Gene Ontology
GO:BP: GO Biological Process
GO:CC: GO Cellular Component
GO:MF: GO Molecular Function
HPO: Human Phenotype Ontology
C6: Oncogenic Signature
C7: Immunologic Signature
IMMUNESIGDB: ImmuneSigDB
VAX: HIPC Vaccine Response
C8: Cell Type Signature
Compendia expression profiles
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NG-CHM interactive heatmaps
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GTEx compendium
Human tissue compendium (Novartis)
Global Cancer Map (Broad Institute)
NCI-60 cell lines (National Cancer Institute)
Legacy heatmaps (PNG)
GTEx compendium
Human tissue compendium (Novartis)
Global Cancer Map (Broad Institute)
NCI-60 cell lines (National Cancer Institute)
Advanced query
Further investigate
these 14 genes
Gene families
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Categorize
these 14 genes by gene family
Show members
(
show
14 source identifiers mapped to 14 genes)
Source
Id
NCBI (Entrez)
Gene Id
Gene
Symbol
Gene
Description
134218
134218
DNAJC21
DnaJ heat shock protein family (Hsp40) memb...
25913
25913
POT1
protection of telomeres 1 [Source:HGNC Symb...
26277
26277
TINF2
TERF1 interacting nuclear factor 2 [Source:...
4194
4194
MDM4
MDM4 regulator of p53 [Source:HGNC Symbol;A...
5073
5073
PARN
poly(A)-specific ribonuclease [Source:HGNC ...
51750
51750
RTEL1
regulator of telomere elongation helicase 1...
55135
55135
WRAP53
WD repeat containing antisense to TP53 [Sou...
55505
55505
NOP10
NOP10 ribonucleoprotein [Source:HGNC Symbol...
55596
55596
ZCCHC8
zinc finger CCHC-type containing 8 [Source:...
6117
6117
RPA1
replication protein A1 [Source:HGNC Symbol;...
65057
65057
ACD
ACD shelterin complex subunit and telomeras...
7015
7015
TERT
telomerase reverse transcriptase [Source:HG...
7157
7157
TP53
tumor protein p53 [Source:HGNC Symbol;Acc:H...
7298
7298
TYMS
thymidylate synthetase [Source:HGNC Symbol;...
Version history
2025.1.Hs: Updated to HPO Release 2025-05-06.
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