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DIAPH1

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gjen i llojit Homo sapiens

External resources

Freebase ID
/m/03gxmzf
Microsoft Academic ID
2778294953
Entrez Gene ID
1729[1]
Ensembl transcript ID
ENST00000524301[2]
ENST00000389054[2]
ENST00000448451[2]
ENST00000468119[2]
ENST00000472516[2]
ENST00000476339[2]
ENST00000491754[2]
ENST00000494967[2]
ENST00000518047[2]
ENST00000518484[2]
ENST00000523100[2]
ENST00000643312[2]
ENST00000647433[2]
ENST00000643718[2]
ENST00000647330[2]
HGNC ID
2876[1]
Ensembl gene ID
ENSG00000131504[2]
UMLS CUI
C1414047[3]
simboli i gjenit HGNC
DIAPH1[1]
OMIM ID
602121[4]
RefSeq RNA ID
NM_001314007[1]
NM_001079812[1]
NM_005219[1]
XM_047416884[1]
XM_047416885[1]

instancë e

gjen[2]

nënklasë e

gjen kodues i proteinave[5]

found in taxon

Homo sapiens[2]

encodes

Diaphanous related formin 1[6]
Protein diaphanous homolog 1[7]

genetic association

microcephaly[8]
progressive microcephaly-seizures-cortical blindness-developmental delay syndrome[9][10]

kromozom

human chromosome 5[2]

genomic assembly: genome assembly GRCh38, Genome assembly GRCh37

strand orientation

reverse strand[2]

genomic assembly: genome assembly GRCh38, Genome assembly GRCh37

genomic start

141515016[2]

genomic assembly: genome assembly GRCh38

kromozom: human chromosome 5

140894583[2]

genomic assembly: Genome assembly GRCh37

kromozom: human chromosome 5

genomic end

141619055[2]

genomic assembly: genome assembly GRCh38

kromozom: human chromosome 5

140998622[2]

genomic assembly: Genome assembly GRCh37

kromozom: human chromosome 5

cytogenetic location

5q31.3[1]

gene deletion association with

microcephaly[8]

HomoloGene ID

129567[1]

Gene Atlas image

ortholog

Diaph1[11][12]

found in taxon: Mus musculus

Diaph1[11]

found in taxon: Miu i murrmë i gjirizeve

dia[11][12]

found in taxon: Drosophila melanogaster

expressed in

Granulociti[13]

rendor serik: 1

Monociti[13]

rendor serik: 2

Achilles tendon[13]

rendor serik: 3

right lobe of liver[13]

rendor serik: 4

gastrocnemius muscle[13]

rendor serik: 5

skin of leg[13]

rendor serik: 6

right lung[13]

rendor serik: 7

upper lobe of left lung[13]

rendor serik: 8

Gjaku[13]

rendor serik: 9

amniotic fluid[13]

rendor serik: 10

përputhje e saktë

http://identifiers.org/ncbigene/1729[14]

Reference

  1. ^ a b c d e f g h i j NCBI Gene, 10 prill 2022, 1729
  2. ^ a b c d e f g h i j k l m n o p q r s t u v w x ensembl Release 106, ENSG00000131504
  3. ^ UMLS 2023, 15 qershor 2023, inferred by common HGNC mappings on source and on Wikidata
  4. ^ Online Mendelian Inheritance in Man, 19 gusht 2019
  5. ^ Ensembl Release 87, ENSG00000131504
  6. ^ UniProt, 6 korrik 2017, O60610
  7. ^ H7C2W8, 22 mars 2016, anglisht, UniProt
  8. ^ a b Homozygous loss of DIAPH1 is a novel cause of microcephaly in humans
  9. ^ O60610, 13 gusht 2019, UniProt
  10. ^ Open Targets Platform, 24 gusht 2023, inferred from an Open Targets association score over 0.7, https://platform.opentargets.org/evidence/ENSG00000131504/MONDO_0014714
  11. ^ a b c HomoloGene build68, 129567
  12. ^ a b Orthologous MAtrix, https://omabrowser.org/oma/vps/O60610/
  13. ^ a b c d e f g h i j Bgee, 7 qershor 2024, https://www.bgee.org/gene/ENSG00000131504
  14. ^ Identifiers.org, http://www.ebi.ac.uk/miriam/main/collections/MIR:00000069
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