ವಿಷಯಕ್ಕೆ ಹೋಗು

DIAPH1

Page contents not supported in other languages.
Create an article

This is an automatic view based on data from Wikidata.
There is not a complete article yet, but you can help creating one.

protein-coding gene in the species Homo sapiens

External resources

Freebase ಐಡಿ
/m/03gxmzf
Microsoft Academic ID
2778294953
Entrez Gene ID
1729[೧]
Ensembl transcript ID
ENST00000524301[೨]
ENST00000389054[೨]
ENST00000448451[೨]
ENST00000468119[೨]
ENST00000472516[೨]
ENST00000476339[೨]
ENST00000491754[೨]
ENST00000494967[೨]
ENST00000518047[೨]
ENST00000518484[೨]
ENST00000523100[೨]
ENST00000643312[೨]
ENST00000647433[೨]
ENST00000643718[೨]
ENST00000647330[೨]
HGNC ID
2876[೧]
Ensembl gene ID
ENSG00000131504[೨]
UMLS CUI
C1414047[೩]
HGNC gene symbol
DIAPH1[೧]
OMIM ID
602121[೪]
RefSeq RNA ID
NM_001314007[೧]
NM_001079812[೧]
NM_005219[೧]
XM_047416884[೧]
XM_047416885[೧]

ಉದಾಹರಣೆಗೆ

ವಂಶವಾಹಿ[೨]

ಉಪವರ್ಗ

protein-coding gene[೫]

found in taxon

Homo sapiens[೨]

encodes

Diaphanous related formin 1[೬]
Protein diaphanous homolog 1[೭]

genetic association

microcephaly[೮]
progressive microcephaly-seizures-cortical blindness-developmental delay syndrome[೯][೧೦]

chromosome

human chromosome 5[೨]

genomic assembly: genome assembly GRCh38, Genome assembly GRCh37

strand orientation

reverse strand[೨]

genomic assembly: genome assembly GRCh38, Genome assembly GRCh37

genomic start

141515016[೨]

genomic assembly: genome assembly GRCh38

chromosome: human chromosome 5

140894583[೨]

genomic assembly: Genome assembly GRCh37

chromosome: human chromosome 5

genomic end

141619055[೨]

genomic assembly: genome assembly GRCh38

chromosome: human chromosome 5

140998622[೨]

genomic assembly: Genome assembly GRCh37

chromosome: human chromosome 5

cytogenetic location

5q31.3[೧]

gene deletion association with

microcephaly[೮]

HomoloGene ID

129567[೧]

Gene Atlas image

ortholog

Diaph1[೧೧][೧೨]

found in taxon: Mus musculus

Diaph1[೧೧]

found in taxon: brown rat

dia[೧೧][೧೨]

found in taxon: Drosophila melanogaster

expressed in

granulocyte[೧೩]

series ordinal: 1

monocyte[೧೩]

series ordinal: 2

Achilles tendon[೧೩]

series ordinal: 3

right lobe of liver[೧೩]

series ordinal: 4

gastrocnemius muscle[೧೩]

series ordinal: 5

skin of leg[೧೩]

series ordinal: 6

right lung[೧೩]

series ordinal: 7

upper lobe of left lung[೧೩]

series ordinal: 8

ರಕ್ತ[೧೩]

series ordinal: 9

amniotic fluid[೧೩]

series ordinal: 10

exact match

http://identifiers.org/ncbigene/1729[೧೪]

Reference

  1. ↑ ೧.೦೦ ೧.೦೧ ೧.೦೨ ೧.೦೩ ೧.೦೪ ೧.೦೫ ೧.೦೬ ೧.೦೭ ೧.೦೮ ೧.೦೯ NCBI Gene, ೧೦ ಏಪ್ರಿಲ್ 2022, 1729
  2. ↑ ೨.೦೦ ೨.೦೧ ೨.೦೨ ೨.೦೩ ೨.೦೪ ೨.೦೫ ೨.೦೬ ೨.೦೭ ೨.೦೮ ೨.೦೯ ೨.೧೦ ೨.೧೧ ೨.೧೨ ೨.೧೩ ೨.೧೪ ೨.೧೫ ೨.೧೬ ೨.೧೭ ೨.೧೮ ೨.೧೯ ೨.೨೦ ೨.೨೧ ೨.೨೨ ೨.೨೩ ensembl Release 106, ENSG00000131504
  3. ↑ UMLS 2023, ೧೫ ಜೂನ್ 2023, inferred by common HGNC mappings on source and on Wikidata
  4. ↑ Online Mendelian Inheritance in Man, ೧೯ ಆಗಸ್ಟ್ 2019
  5. ↑ Ensembl Release 87, ENSG00000131504
  6. ↑ UniProt, ೬ ಜುಲೈ 2017, O60610
  7. ↑ H7C2W8, ೨೨ ಮಾರ್ಚ್ 2016, ಆಂಗ್ಲ, UniProt
  8. ↑ ೮.೦ ೮.೧ Homozygous loss of DIAPH1 is a novel cause of microcephaly in humans
  9. ↑ O60610, ೧೩ ಆಗಸ್ಟ್ 2019, UniProt
  10. ↑ Open Targets Platform, ೨೪ ಆಗಸ್ಟ್ 2023, inferred from an Open Targets association score over 0.7, https://platform.opentargets.org/evidence/ENSG00000131504/MONDO_0014714
  11. ↑ ೧೧.೦ ೧೧.೧ ೧೧.೨ HomoloGene build68, 129567
  12. ↑ ೧೨.೦ ೧೨.೧ Orthologous MAtrix, https://omabrowser.org/oma/vps/O60610/
  13. ↑ ೧೩.೦೦ ೧೩.೦೧ ೧೩.೦೨ ೧೩.೦೩ ೧೩.೦೪ ೧೩.೦೫ ೧೩.೦೬ ೧೩.೦೭ ೧೩.೦೮ ೧೩.೦೯ Bgee, ೭ ಜೂನ್ 2024, https://www.bgee.org/gene/ENSG00000131504
  14. ↑ Identifiers.org, http://www.ebi.ac.uk/miriam/main/collections/MIR:00000069
"https://kn.wikipedia.org/wiki/ವಿಶೇಷ:AboutTopic/Q17913996" ಇಂದ ಪಡೆಯಲ್ಪಟ್ಟಿದೆ