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English
OPHN1
protein-coding gene in the species Homo sapiens
ARHGAP41
MRX60
OPN1
oligophrenin 1
MRXSBL
In more languages
edit
Statements
instance of
gene
1 reference
stated in
ensembl Release 106
Ensembl gene ID
ENSG00000079482
subclass of
protein-coding gene
1 reference
stated in
Ensembl Release 87
Ensembl gene ID
ENSG00000079482
found in taxon
Homo sapiens
1 reference
stated in
ensembl Release 106
Ensembl gene ID
ENSG00000079482
encodes
Oligophrenin 1
1 reference
stated in
UniProt
retrieved
6 July 2017
UniProt protein ID
O60890
genetic association
X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance
3 references
stated in
UniProt
UniProt protein ID
O60890
retrieved
13 August 2019
stated in
Open Targets Platform
retrieved
24 August 2023
reference URL
https://platform.opentargets.org/evidence/ENSG00000079482/MONDO_0010337
based on heuristic
inferred from an Open Targets association score over 0.7
stated in
Open Targets Platform
retrieved
24 August 2023
reference URL
https://platform.opentargets.org/evidence/ENSG00000079482/Orphanet_137831
based on heuristic
inferred from an Open Targets association score over 0.7
chromosome
human X chromosome
genomic assembly
genome assembly GRCh38
Genome assembly GRCh37
1 reference
stated in
ensembl Release 106
Ensembl gene ID
ENSG00000079482
strand orientation
reverse strand
genomic assembly
genome assembly GRCh38
Genome assembly GRCh37
1 reference
stated in
ensembl Release 106
Ensembl gene ID
ENSG00000079482
genomic start
67262186
chromosome
human X chromosome
genomic assembly
Genome assembly GRCh37
1 reference
stated in
ensembl Release 106
Ensembl gene ID
ENSG00000079482
67949349
chromosome
human X chromosome
genomic assembly
genome assembly GRCh38
1 reference
stated in
ensembl Release 106
Ensembl gene ID
ENSG00000079482
genomic end
68433913
chromosome
human X chromosome
genomic assembly
genome assembly GRCh38
1 reference
stated in
ensembl Release 106
Ensembl gene ID
ENSG00000079482
67653755
chromosome
human X chromosome
genomic assembly
Genome assembly GRCh37
1 reference
stated in
ensembl Release 106
Ensembl gene ID
ENSG00000079482
cytogenetic location
Xq12
1 reference
stated in
NCBI Gene
retrieved
15 May 2022
Entrez Gene ID
4983
HomoloGene ID
1913
1 reference
stated in
NCBI Gene
retrieved
15 May 2022
Entrez Gene ID
4983
ortholog
Ophn1
found in taxon
house mouse
1 reference
stated in
HomoloGene build68
HomoloGene ID
1913
Ophn1
found in taxon
brown rat
1 reference
stated in
HomoloGene build68
HomoloGene ID
1913
expressed in
corpus callosum
series ordinal
1
1 reference
stated in
Bgee
retrieved
19 April 2022
reference URL
https://bgee.org/bgee15_0/gene/ENSG00000079482
Achilles tendon
series ordinal
2
1 reference
stated in
Bgee
retrieved
19 April 2022
reference URL
https://bgee.org/bgee15_0/gene/ENSG00000079482
sural nerve
series ordinal
3
1 reference
stated in
Bgee
retrieved
19 April 2022
reference URL
https://bgee.org/bgee15_0/gene/ENSG00000079482
ganglionic eminence
series ordinal
4
1 reference
stated in
Bgee
retrieved
19 April 2022
reference URL
https://bgee.org/bgee15_0/gene/ENSG00000079482
amygdala
series ordinal
5
1 reference
stated in
Bgee
retrieved
19 April 2022
reference URL
https://bgee.org/bgee15_0/gene/ENSG00000079482
nucleus accumbens
series ordinal
6
1 reference
stated in
Bgee
retrieved
19 April 2022
reference URL
https://bgee.org/bgee15_0/gene/ENSG00000079482
caudate nucleus
series ordinal
7
1 reference
stated in
Bgee
retrieved
19 April 2022
reference URL
https://bgee.org/bgee15_0/gene/ENSG00000079482
putamen
series ordinal
8
1 reference
stated in
Bgee
retrieved
19 April 2022
reference URL
https://bgee.org/bgee15_0/gene/ENSG00000079482
cingulate gyrus
series ordinal
9
1 reference
stated in
Bgee
retrieved
19 April 2022
reference URL
https://bgee.org/bgee15_0/gene/ENSG00000079482
cervix
series ordinal
10
1 reference
stated in
Bgee
retrieved
19 April 2022
reference URL
https://bgee.org/bgee15_0/gene/ENSG00000079482
exact match
http://identifiers.org/ncbigene/4983
1 reference
stated in
Identifiers.org
reference URL
http://www.ebi.ac.uk/miriam/main/collections/MIR:00000069
Identifiers
RefSeq RNA ID
XM_011530961
1 reference
stated in
NCBI Gene
retrieved
15 May 2022
Entrez Gene ID
4983
NM_002547
1 reference
stated in
NCBI Gene
retrieved
15 May 2022
Entrez Gene ID
4983
XM_005262270
1 reference
stated in
NCBI Gene
retrieved
15 May 2022
Entrez Gene ID
4983
XM_006724653
1 reference
stated in
NCBI Gene
retrieved
15 May 2022
Entrez Gene ID
4983
XM_017029555
1 reference
stated in
NCBI Gene
retrieved
15 May 2022
Entrez Gene ID
4983
XM_047442144
1 reference
stated in
NCBI Gene
retrieved
10 April 2022
Entrez Gene ID
4983
XM_047442145
1 reference
stated in
NCBI Gene
retrieved
10 April 2022
Entrez Gene ID
4983
Entrez Gene ID
4983
1 reference
stated in
NCBI Gene
retrieved
15 May 2022
Entrez Gene ID
4983
Ensembl gene ID
ENSG00000079482
1 reference
stated in
ensembl Release 106
Ensembl gene ID
ENSG00000079482
Ensembl transcript ID
ENST00000491714
1 reference
stated in
ensembl Release 106
Ensembl gene ID
ENSG00000079482
ENST00000355520
1 reference
stated in
ensembl Release 106
Ensembl gene ID
ENSG00000079482
ENST00000467444
1 reference
stated in
ensembl Release 106
Ensembl gene ID
ENSG00000079482
ENST00000484842
1 reference
stated in
ensembl Release 106
Ensembl gene ID
ENSG00000079482
ENST00000486068
1 reference
stated in
ensembl Release 106
Ensembl gene ID
ENSG00000079482
ENST00000681408
1 reference
stated in
ensembl Release 106
Ensembl gene ID
ENSG00000079482
ENST00000679394
1 reference
stated in
ensembl Release 106
Ensembl gene ID
ENSG00000079482
ENST00000680503
1 reference
stated in
ensembl Release 106
Ensembl gene ID
ENSG00000079482
ENST00000679822
1 reference
stated in
ensembl Release 106
Ensembl gene ID
ENSG00000079482
ENST00000680612
1 reference
stated in
ensembl Release 106
Ensembl gene ID
ENSG00000079482
ENST00000680592
1 reference
stated in
ensembl Release 106
Ensembl gene ID
ENSG00000079482
ENST00000679748
1 reference
stated in
ensembl Release 106
Ensembl gene ID
ENSG00000079482
ENST00000681349
1 reference
stated in
ensembl Release 106
Ensembl gene ID
ENSG00000079482
ENST00000681520
1 reference
stated in
ensembl Release 106
Ensembl gene ID
ENSG00000079482
ENST00000680976
1 reference
stated in
ensembl Release 106
Ensembl gene ID
ENSG00000079482
ENST00000680417
1 reference
stated in
ensembl Release 106
Ensembl gene ID
ENSG00000079482
ENST00000680804
1 reference
stated in
ensembl Release 106
Ensembl gene ID
ENSG00000079482
ENST00000679914
1 reference
stated in
ensembl Release 106
Ensembl gene ID
ENSG00000079482
ENST00000680595
1 reference
stated in
ensembl Release 106
Ensembl gene ID
ENSG00000079482
ENST00000680262
1 reference
stated in
ensembl Release 106
Ensembl gene ID
ENSG00000079482
Freebase ID
/m/03g__md
0 references
HGNC gene symbol
OPHN1
1 reference
stated in
NCBI Gene
retrieved
15 May 2022
Entrez Gene ID
4983
HGNC ID
8148
1 reference
stated in
NCBI Gene
retrieved
15 May 2022
Entrez Gene ID
4983
OMIM ID
300127
1 reference
stated in
Online Mendelian Inheritance in Man
retrieved
19 August 2019
UMLS CUI
C1417960
1 reference
based on heuristic
inferred by common HGNC mappings on source and on Wikidata
stated in
UMLS 2023
retrieved
15 June 2023
Sitelinks
Wikipedia
(3 entries)
edit
enwiki
OPHN1
ttwiki
OPHN1
ukwiki
OPHN1
Wikibooks
(0 entries)
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Wikinews
(0 entries)
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Wikiquote
(0 entries)
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Wikisource
(0 entries)
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Wikiversity
(0 entries)
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Wikivoyage
(0 entries)
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Wiktionary
(0 entries)
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Multilingual sites
(0 entries)
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