CH25H (cholesterol 25-hydroxylase)

Gene: CH25H (cholesterol 25-hydroxylase) Homo sapiens

Analyze

Symbol:

CH25H

Name:

cholesterol 25-hydroxylase

RGD ID:

1321560

HGNC Page

HGNC:1907

Description:

Enables cholesterol 25-hydroxylase activity. Involved in cholesterol metabolic process; negative regulation of fusion of virus membrane with host plasma membrane; and response to type I interferon. Predicted to be located in cytosol. Predicted to be active in endoplasmic reticulum membrane.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

C25H; cholesterol 25-monooxygenase; h25OH

RGD Orthologs

Alliance Genes

More Info

more info ...

More Info

Species	Gene symbol and name	Data Source	Assertion derived from	less info ...
Orthologs ¹				less info ...
Mus musculus (house mouse):	Ch25h (cholesterol 25-hydroxylase)	HGNC	EggNOG, Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Rattus norvegicus (Norway rat):	Ch25h (cholesterol 25-hydroxylase)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Chinchilla lanigera (long-tailed chinchilla):	Ch25h (cholesterol 25-hydroxylase)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	CH25H (cholesterol 25-hydroxylase)	NCBI	Ortholog
Canis lupus familiaris (dog):	CH25H (cholesterol 25-hydroxylase)	HGNC	EggNOG, Ensembl, HomoloGene, NCBI, OMA, OrthoDB, OrthoMCL, Treefam
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Ch25h (cholesterol 25-hydroxylase)	NCBI	Ortholog
Sus scrofa (pig):	CH25H (cholesterol 25-hydroxylase)	HGNC	EggNOG, Ensembl, Inparanoid, NCBI, OMA, OrthoDB, Panther, Treefam
Chlorocebus sabaeus (green monkey):	CH25H (cholesterol 25-hydroxylase)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Ch25h (cholesterol 25-hydroxylase)	NCBI	Ortholog
Other homologs ²
Rattus norvegicus (Norway rat):	Abca1 (ATP binding cassette subfamily A member 1)	HGNC	OMA
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Ch25h (cholesterol 25-hydroxylase)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Mus musculus (house mouse):	Ch25h (cholesterol 25-hydroxylase)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Danio rerio (zebrafish):	ch25h (cholesterol 25-hydroxylase)	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|SonicParanoid\|ZFIN)
Caenorhabditis elegans (roundworm):	F35C8.5	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Saccharomyces cerevisiae (baker's yeast):	SUR2	Alliance	DIOPT (Ensembl Compara\|OrthoFinder)
Xenopus tropicalis (tropical clawed frog):	ch25h	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|SonicParanoid)
Xenopus laevis (African clawed frog):	ch25h.L	Alliance	DIOPT (Xenbase)
Xenopus laevis (African clawed frog):	ch25h.S	Alliance	DIOPT (Xenbase)

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	10	89,205,629 - 89,207,317 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	10	89,205,629 - 89,207,317 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	10	90,965,386 - 90,967,074 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	10	90,955,674 - 90,957,051 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	10	90,955,673 - 90,957,051	NCBI
Celera	10	84,712,523 - 84,713,900 (-)	NCBI		Celera
Cytogenetic Map	10	q23.31	NCBI
HuRef	10	84,600,155 - 84,601,532 (-)	NCBI		HuRef
CHM1_1	10	91,247,750 - 91,249,127 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	10	90,089,526 - 90,091,214 (-)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

autoimmune lymphoproliferative syndrome (IAGP)

Familial Thoracic Aortic Aneurysm 6 (IAGP)

genetic disease (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

2,2',4,4'-Tetrabromodiphenyl ether (EXP)

2,3,7,8-tetrachlorodibenzodioxine (ISO)

2,4-dibromophenyl 2,4,5-tribromophenyl ether (EXP)

3,3',5,5'-tetrabromobisphenol A (EXP)

3,4-methylenedioxymethamphetamine (ISO)

3-isobutyl-1-methyl-7H-xanthine (EXP)

4,4'-sulfonyldiphenol (EXP)

acetamide (ISO)

acrylamide (ISO)

aflatoxin B1 (ISO)

all-trans-retinoic acid (ISO)

arsenite(3-) (EXP)

benzo[a]pyrene (EXP,ISO)

beta-naphthoflavone (ISO)

bisphenol A (EXP,ISO)

cadmium dichloride (ISO)

carbofuran (ISO)

carbon nanotube (ISO)

CGP 52608 (EXP)

chloroprene (ISO)

chromium(6+) (ISO)

cisplatin (ISO)

clarithromycin (ISO)

decabromodiphenyl ether (ISO)

dexamethasone (EXP,ISO)

dibutyl phthalate (ISO)

dioxygen (ISO)

doxorubicin (ISO)

endosulfan (ISO)

fulvestrant (EXP)

furan (ISO)

genistein (ISO)

gentamycin (ISO)

glycidol (ISO)

graphene oxide (ISO)

hydroquinone (EXP)

indometacin (EXP)

isoprenaline (ISO)

lipopolysaccharide (EXP)

loperamide (ISO)

malathion (EXP)

manganese(II) chloride (ISO)

mono(2-ethylhexyl) phthalate (ISO)

Muraglitazar (ISO)

N-nitrosodiethylamine (ISO)

naphthalene (ISO)

nickel atom (EXP)

nitrofen (ISO)

ozone (ISO)

paracetamol (ISO)

phosgene (ISO)

potassium dichromate (ISO)

pregnenolone 16alpha-carbonitrile (ISO)

progesterone (EXP,ISO)

quartz (ISO)

S-(1,2-dichlorovinyl)-L-cysteine (EXP)

serpentine asbestos (ISO)

silicon dioxide (EXP,ISO)

sodium arsenite (EXP,ISO)

Soman (ISO)

Tesaglitazar (ISO)

tetrachloromethane (ISO)

thioacetamide (ISO)

titanium dioxide (ISO)

trichloroethene (ISO)

troglitazone (ISO)

valproic acid (EXP,ISO)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

B cell chemotaxis (IEA,ISS)

cholesterol metabolic process (IBA,IDA,IEA,ISO)

lipid biosynthetic process (IEA)

lipid metabolic process (IEA,TAS)

negative regulation of cholesterol metabolic process (IEA)

negative regulation of fusion of virus membrane with host plasma membrane (IDA)

response to type I interferon (IDA)

steroid biosynthetic process (IEA)

steroid metabolic process (IEA)

sterol biosynthetic process (IBA,IEA)

Cellular Component

cytosol (TAS)

endoplasmic reticulum (IEA)

endoplasmic reticulum membrane (IBA,IEA)

membrane (IEA)

Molecular Function

C-4 methylsterol oxidase activity (IBA,IEA)

cholesterol 25-hydroxylase activity (IDA,IEA,ISS)

iron ion binding (IEA)

metal ion binding (IEA)

monooxygenase activity (IEA)

oxidoreductase activity (IEA)

protein binding (IPI)

steroid hydroxylase activity (IBA,IEA,TAS)

Molecular Pathway Annotations Click to see Annotation Detail View

bile acid biosynthetic pathway (EXP,IEA)

cerebrotendinous xanthomatosis pathway (EXP)

congenital bile acid synthesis defect pathway (EXP)

familial hypercholanemia pathway (EXP)

primary bile acid biosynthetic pathway (IEA)

Zellweger syndrome pathway (EXP)

References

References - curated

#	Reference Title	Reference Citation
1.	GOAs Human GO annotations	GOA_HUMAN data from the GO Consortium
2.	KEGG Annotation Import Pipeline	Pipeline to import KEGG annotations from KEGG into RGD
3.	SMPDB Annotation Import Pipeline	Pipeline to import SMPDB annotations from SMPDB into RGD
4.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions

Additional References at PubMed

PMID:9852097	PMID:12477932	PMID:15164054	PMID:15465627	PMID:15489334	PMID:16157450	PMID:16385451	PMID:16909003	PMID:17373700	PMID:18830724	PMID:20413850	PMID:20445134
PMID:20534741	PMID:20535486	PMID:20574532	PMID:20699362	PMID:21041692	PMID:21873635	PMID:24667918	PMID:25903345	PMID:25999047	PMID:26469385	PMID:26857497	PMID:27912195
PMID:28298427	PMID:29950420	PMID:30645975	PMID:30684189	PMID:31375561	PMID:31552533	PMID:32229247	PMID:32296183	PMID:32944968	PMID:33239446	PMID:34227577	PMID:36378658
PMID:37646031	PMID:37660656	PMID:37720208	PMID:37831916	PMID:38331303

Genomics

Comparative Map Data

CH25H
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	10	89,205,629 - 89,207,317 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	10	89,205,629 - 89,207,317 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	10	90,965,386 - 90,967,074 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	10	90,955,674 - 90,957,051 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	10	90,955,673 - 90,957,051	NCBI
Celera	10	84,712,523 - 84,713,900 (-)	NCBI		Celera
Cytogenetic Map	10	q23.31	NCBI
HuRef	10	84,600,155 - 84,601,532 (-)	NCBI		HuRef
CHM1_1	10	91,247,750 - 91,249,127 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	10	90,089,526 - 90,091,214 (-)	NCBI		T2T-CHM13v2.0

Ch25h
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	19	34,451,183 - 34,452,548 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	19	34,451,178 - 34,452,564 (-)	Ensembl		GRCm39 Ensembl
GRCm38	19	34,473,783 - 34,475,148 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	19	34,473,778 - 34,475,164 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	19	34,548,273 - 34,549,625 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	19	34,539,780 - 34,541,132 (-)	NCBI		MGSCv36	mm8
Celera	19	35,249,457 - 35,250,809 (-)	NCBI		Celera
Cytogenetic Map	19	C1	NCBI
cM Map	19	29.69	NCBI

Ch25h
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	1	241,428,048 - 241,429,366 (-)	NCBI		GRCr8
mRatBN7.2	1	232,014,877 - 232,016,195 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	1	232,014,880 - 232,016,195 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	1	240,404,834 - 240,406,152 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	1	247,327,664 - 247,328,982 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	1	240,165,868 - 240,167,186 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	1	252,807,062 - 252,811,409 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	1	252,807,065 - 252,808,380 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	1	260,028,706 - 260,035,142 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	1	238,457,017 - 238,458,335 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	1	238,620,925 - 238,622,241 (-)	NCBI
Celera	1	229,127,450 - 229,128,768 (-)	NCBI		Celera
Cytogenetic Map	1	q53	NCBI

Ch25h
(Chinchilla lanigera - long-tailed chinchilla)

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0	NW_004955425	3,763,302 - 3,764,432 (+)	NCBI	ChiLan1.0	ChiLan1.0

CH25H
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
NHGRI_mPanPan1-v2	8	101,224,225 - 101,225,577 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	10	101,229,539 - 101,230,993 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	10	85,930,638 - 85,932,065 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	10	89,470,908 - 89,472,278 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	10	89,471,441 - 89,472,259 (-)	Ensembl	panpan1.1		panPan2

CH25H
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	26	38,884,356 - 38,885,728 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
Dog10K_Boxer_Tasha	26	38,635,628 - 38,637,001 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	26	40,468,717 - 40,470,089 (-)	NCBI		ROS_Cfam_1.0
UMICH_Zoey_3.1	26	38,339,014 - 38,340,386 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	26	37,902,557 - 37,903,928 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	26	39,172,313 - 39,173,684 (-)	NCBI		UU_Cfam_GSD_1.0

Ch25h
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	NW_024407213	43,382,065 - 43,384,853 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936601	5,015,219 - 5,160,908 (+)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936601	5,015,922 - 5,016,942 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

CH25H
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	14	101,123,398 - 101,125,593 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	14	101,122,318 - 101,128,622 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	14	110,108,096 - 110,110,898 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

CH25H
(Chlorocebus sabaeus - green monkey)

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	9	82,632,151 - 82,634,101 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	9	82,633,004 - 82,633,819 (-)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666048	43,308,387 - 43,309,759 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Ch25h
(Heterocephalus glaber - naked mole-rat)

Naked Mole-Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Naked Mole-Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla 1.0	NW_004624737	39,649 - 41,241 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in CH25H
14 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 10q23.31(chr10:89095288-89633544)x3	copy number gain	See cases [RCV000141185]	Chr10:89095288..89633544 [GRCh38] Chr10:90855045..91393301 [GRCh37] Chr10:90845025..91383281 [NCBI36] Chr10:10q23.31	uncertain significance
GRCh37/hg19 10q23.1-23.31(chr10:86766571-92609514)x1	copy number loss	See cases [RCV000447104]	Chr10:86766571..92609514 [GRCh37] Chr10:10q23.1-23.31	pathogenic
GRCh37/hg19 10q23.1-25.1(chr10:85557432-105804295)x1	copy number loss	Poly (ADP-Ribose) polymerase inhibitor response [RCV000431909]	Chr10:85557432..105804295 [GRCh37] Chr10:10q23.1-25.1	pathogenic\|drug response
GRCh37/hg19 10q23.2-23.31(chr10:88615516-92032083)x3	copy number gain	See cases [RCV000448638]	Chr10:88615516..92032083 [GRCh37] Chr10:10q23.2-23.31	uncertain significance
GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	copy number gain	See cases [RCV000448750]	Chr10:93297..135378918 [GRCh37] Chr10:10p15.3-q26.3	pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	copy number gain	See cases [RCV000511389]	Chr10:100027..135427143 [GRCh37] Chr10:10p15.3-q26.3	pathogenic\|uncertain significance
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	copy number gain	See cases [RCV000510861]	Chr10:100027..135427143 [GRCh37] Chr10:10p15.3-q26.3	pathogenic
GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1	copy number loss	Poly (ADP-Ribose) polymerase inhibitor response [RCV000626438]	Chr10:42347406..135534747 [GRCh37] Chr10:10q11.21-26.3	drug response
GRCh37/hg19 10q23.1-23.32(chr10:83379241-93219169)x1	copy number loss	not provided [RCV000683284]	Chr10:83379241..93219169 [GRCh37] Chr10:10q23.1-23.32	pathogenic
GRCh37/hg19 10q21.3-23.32(chr10:69040366-93194993)x3	copy number gain	not provided [RCV000683289]	Chr10:69040366..93194993 [GRCh37] Chr10:10q21.3-23.32	pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:73232-135524321)x3	copy number gain	not provided [RCV000749464]	Chr10:73232..135524321 [GRCh37] Chr10:10p15.3-q26.3	pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:98087-135477883)x3	copy number gain	not provided [RCV000749465]	Chr10:98087..135477883 [GRCh37] Chr10:10p15.3-q26.3	pathogenic
NC_000010.11:g.(?_88989499)_(89247668_?)del	deletion	Autoimmune lymphoproliferative syndrome type 1 [RCV001031843]	Chr10:90749256..91007425 [GRCh37] Chr10:10q23.31	pathogenic
GRCh37/hg19 10q23.31(chr10:90961633-90977163)x1	copy number loss	not provided [RCV000849724]	Chr10:90961633..90977163 [GRCh37] Chr10:10q23.31	uncertain significance
GRCh37/hg19 10q23.31(chr10:90510448-91086868)x1	copy number loss	not provided [RCV000846183]	Chr10:90510448..91086868 [GRCh37] Chr10:10q23.31	uncertain significance
NC_000010.11:g.(?_88770845)_(89328078_?)del	deletion	Autoimmune lymphoproliferative syndrome type 1 [RCV001033359]	Chr10:90530602..91087835 [GRCh37] Chr10:10q23.31	pathogenic
GRCh37/hg19 10q23.2-23.31(chr10:88685387-92144296)x1	copy number loss	not provided [RCV001258457]	Chr10:88685387..92144296 [GRCh37] Chr10:10q23.2-23.31	pathogenic
NC_000010.10:g.(?_90694970)_(91007415_?)dup	duplication	Aortic aneurysm, familial thoracic 6 [RCV001953363]	Chr10:90694970..91007415 [GRCh37] Chr10:10q23.31	uncertain significance
GRCh37/hg19 10q23.1-23.31(chr10:83533660-91913077)x1	copy number loss	See cases [RCV002287561]	Chr10:83533660..91913077 [GRCh37] Chr10:10q23.1-23.31	pathogenic
GRCh37/hg19 10q23.31-23.33(chr10:89823147-96056941)x1	copy number loss	not provided [RCV002472645]	Chr10:89823147..96056941 [GRCh37] Chr10:10q23.31-23.33	pathogenic
GRCh37/hg19 10q23.31(chr10:90874051-91291188)x3	copy number gain	not provided [RCV002474794]	Chr10:90874051..91291188 [GRCh37] Chr10:10q23.31	uncertain significance
GRCh37/hg19 10q23.31(chr10:90672265-91165763)x3	copy number gain	not provided [RCV002474877]	Chr10:90672265..91165763 [GRCh37] Chr10:10q23.31	uncertain significance
GRCh37/hg19 10q23.1-23.32(chr10:82595472-93542416)x1	copy number loss	not provided [RCV002472429]	Chr10:82595472..93542416 [GRCh37] Chr10:10q23.1-23.32	pathogenic
NM_003956.4(CH25H):c.257C>T (p.Pro86Leu)	single nucleotide variant	Inborn genetic diseases [RCV002684961]	Chr10:89207036 [GRCh38] Chr10:90966793 [GRCh37] Chr10:10q23.31	uncertain significance
NM_003956.4(CH25H):c.265G>A (p.Gly89Arg)	single nucleotide variant	Inborn genetic diseases [RCV002992190]	Chr10:89207028 [GRCh38] Chr10:90966785 [GRCh37] Chr10:10q23.31	uncertain significance
NM_003956.4(CH25H):c.649G>A (p.Gly217Ser)	single nucleotide variant	Inborn genetic diseases [RCV002945182]	Chr10:89206644 [GRCh38] Chr10:90966401 [GRCh37] Chr10:10q23.31	uncertain significance
NM_003956.4(CH25H):c.145G>A (p.Val49Met)	single nucleotide variant	Inborn genetic diseases [RCV002732943]	Chr10:89207148 [GRCh38] Chr10:90966905 [GRCh37] Chr10:10q23.31	uncertain significance
NM_003956.4(CH25H):c.287T>C (p.Val96Ala)	single nucleotide variant	Inborn genetic diseases [RCV002794677]	Chr10:89207006 [GRCh38] Chr10:90966763 [GRCh37] Chr10:10q23.31	uncertain significance
NM_003956.4(CH25H):c.523A>G (p.Ser175Gly)	single nucleotide variant	Inborn genetic diseases [RCV002728418]	Chr10:89206770 [GRCh38] Chr10:90966527 [GRCh37] Chr10:10q23.31	uncertain significance
NM_003956.4(CH25H):c.793C>T (p.Arg265Trp)	single nucleotide variant	Inborn genetic diseases [RCV002864616]	Chr10:89206500 [GRCh38] Chr10:90966257 [GRCh37] Chr10:10q23.31	uncertain significance
NM_003956.4(CH25H):c.38G>T (p.Cys13Phe)	single nucleotide variant	Inborn genetic diseases [RCV002691289]	Chr10:89207255 [GRCh38] Chr10:90967012 [GRCh37] Chr10:10q23.31	uncertain significance
NM_003956.4(CH25H):c.382A>T (p.Ile128Phe)	single nucleotide variant	Inborn genetic diseases [RCV002709754]	Chr10:89206911 [GRCh38] Chr10:90966668 [GRCh37] Chr10:10q23.31	uncertain significance
NM_003956.4(CH25H):c.215A>G (p.Lys72Arg)	single nucleotide variant	Inborn genetic diseases [RCV002835527]	Chr10:89207078 [GRCh38] Chr10:90966835 [GRCh37] Chr10:10q23.31	uncertain significance
NM_003956.4(CH25H):c.188C>G (p.Ser63Cys)	single nucleotide variant	Inborn genetic diseases [RCV002679951]	Chr10:89207105 [GRCh38] Chr10:90966862 [GRCh37] Chr10:10q23.31	uncertain significance
NM_003956.4(CH25H):c.212A>G (p.Tyr71Cys)	single nucleotide variant	Inborn genetic diseases [RCV003198866]	Chr10:89207081 [GRCh38] Chr10:90966838 [GRCh37] Chr10:10q23.31	uncertain significance
NM_003956.4(CH25H):c.559A>G (p.Met187Val)	single nucleotide variant	Inborn genetic diseases [RCV003193297]	Chr10:89206734 [GRCh38] Chr10:90966491 [GRCh37] Chr10:10q23.31	uncertain significance
GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	copy number gain	Distal trisomy 10q [RCV003319593]	Chr10:11138692..135427143 [GRCh37] Chr10:10p14-q26.3	pathogenic
NM_003956.4(CH25H):c.611A>G (p.His204Arg)	single nucleotide variant	Inborn genetic diseases [RCV003309002]	Chr10:89206682 [GRCh38] Chr10:90966439 [GRCh37] Chr10:10q23.31	uncertain significance
GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	copy number loss	Distal 10q deletion syndrome [RCV003319583]	Chr10:12829206..135427143 [GRCh37] Chr10:10p13-q26.3	pathogenic
GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3	copy number gain	not provided [RCV003484798]	Chr10:42709645..100834951 [GRCh37] Chr10:10q11.21-24.2	pathogenic
GRCh37/hg19 10q23.31(chr10:90948076-91395072)x3	copy number gain	not specified [RCV003986858]	Chr10:90948076..91395072 [GRCh37] Chr10:10q23.31	uncertain significance
GRCh37/hg19 10q23.31-24.2(chr10:90796994-100067505)x1	copy number loss	not specified [RCV003986861]	Chr10:90796994..100067505 [GRCh37] Chr10:10q23.31-24.2	pathogenic
GRCh37/hg19 10q23.31-23.32(chr10:89950990-92959893)x3	copy number gain	not specified [RCV003986875]	Chr10:89950990..92959893 [GRCh37] Chr10:10q23.31-23.32	uncertain significance
GRCh37/hg19 10q23.2-23.32(chr10:88121043-93641582)x1	copy number loss	not specified [RCV003986869]	Chr10:88121043..93641582 [GRCh37] Chr10:10q23.2-23.32	pathogenic

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	204
Count of miRNA genes:	166
Interacting mature miRNAs:	188
Transcripts:	ENST00000371852
Prediction methods:	Miranda, Rnahybrid, Targetscan
Result types:	miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region

RH45896

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	10	90,965,513 - 90,965,641	UniSTS	GRCh37
Build 36	10	90,955,493 - 90,955,621	RGD	NCBI36
Celera	10	84,712,342 - 84,712,470	RGD
Cytogenetic Map	10	q23	UniSTS
HuRef	10	84,599,974 - 84,600,102	UniSTS
GeneMap99-GB4 RH Map	10	428.86	UniSTS
NCBI RH Map	10	1035.6	UniSTS

Expression

RNA-SEQ Expression

High: > 1000 TPM value Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system

circulatory system

endocrine system

exocrine system

hemolymphoid system

hepatobiliary system

integumental system

musculoskeletal system

nervous system

renal system

reproductive system

respiratory system

sensory system

visual system

adipose tissue

appendage

entire extraembryonic component

pharyngeal arch

High

Medium

516

210

300

453

273

592

136

588

507

269

Low

1778

1736

1266

439

495

300

3278

1295

2842

273

879

819

142

690

2059

Below cutoff

738

129

122

594

107

548

590

260

367

102

447

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_003956	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AF059212	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF059214	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK314865	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL513533	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC017843	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC072430	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471066	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068268	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	FB336678	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	HH768017	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

RefSeq Acc Id:

ENST00000371852 ⟹ ENSP00000360918

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	10	89,205,629 - 89,207,317 (-)	Ensembl

RefSeq Acc Id:

NM_003956 ⟹ NP_003947

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	10	89,205,629 - 89,207,317 (-)	NCBI
GRCh37	10	90,965,694 - 90,967,071 (-)	RGD
Build 36	10	90,955,674 - 90,957,051 (-)	NCBI Archive
Celera	10	84,712,523 - 84,713,900 (-)	RGD
HuRef	10	84,600,155 - 84,601,532 (-)	ENTREZGENE
CHM1_1	10	91,247,750 - 91,249,127 (-)	NCBI
T2T-CHM13v2.0	10	90,089,526 - 90,091,214 (-)	NCBI

Sequence:

show sequence

CTCAGCTGCCTTGCACAGCCTCGCAATGAGCTGCCACAACTGCTCCGACCCCCAGGTCCTTTGC
AGCTCCGGGCAGCTGTTCCTGCAGCCCCTCTGGGACCACCTGAGGAGCTGGGAGGCCCTCCTAC
AGTCGCCCTTCTTCCCGGTCATCTTCTCCATCACCACATACGTGGGCTTTTGCCTGCCCTTCGT
GGTCCTGGATATCCTGTGCTCCTGGGTGCCCGCCCTGCGGCGCTACAAGATCCACCCTGACTTC
TCGCCATCCGCGCAGCAGCTGCTACCTTGCCTGGGGCAGACCCTCTACCAGCATGTGATGTTTG
TGTTCCCCGTGACGCTGCTGCATTGGGCCCGCAGCCCGGCCCTCCTGCCCCACGAAGCTCCCGA
GCTGCTCCTGCTGCTGCACCACATCCTGTTCTGCCTGCTACTCTTCGACATGGAGTTCTTCGTG
TGGCACCTGCTGCACCACAAGGTGCCCTGGCTGTACCGCACCTTCCACAAGGTGCACCACCAGA
ACTCGTCCTCGTTCGCGCTGGCAACGCAGTATATGAGCGTCTGGGAACTGTTTTCTTTGGGCTT
CTTCGACATGATGAACGTCACACTGCTCGGGTGCCACCCGCTCACCACCCTGACCTTCCACGTG
GTCAACATCTGGCTTTCCGTGGAGGACCACTCCGGCTACAACTTCCCTTGGTCCACTCACAGAC
TGGTGCCCTTCGGGTGGTACGGGGGTGTGGTGCACCACGACCTGCATCACTCTCACTTTAACTG
CAACTTCGCTCCGTACTTTACACACTGGGACAAAATACTGGGAACGCTGCGGACTGCATCTGTC
CCAGCGCGGTGATGTGGCTGCGGTGGGTGCCCCTAAGACTCGGGACTGCTGTGCCTTTCACACT
TGAATGAAGAGAAACACCTGAGCTATATATTTTTTTAAAGCAACTAACTTATTGCTTTATGTTT
ATCTATGAAAACCATAGATAAAATCTGATGCATTTTTGTAATCTGACAAAGTAATTTACATACT
GTTTGTGTATCAATACAATTTTGTGTTCTTGGTATTCTTAGTCTAGCTCACCTCAATAGCCTTG
AATCCTGCATATGAATTAGACATTCATCACTGGCATATTTAGAATATCTCTAAAAGGACTTGTT
TGTAGAATAAGGAATTTTCTATGTTTCAAAGTGTTCTAAAACCTGGCTAAAAGAATGTATTTTT
GTGGATGGTGTTGACTTCTGACTCTAAAAGCAATCAAACATGTTTCTGCTGGACAGTGACCAAG
AATTATAGTACCTTCTTATATTTTTTTATAGAACTGTATATTTATTTTGAAAGAAATGTTATTC
GTGCTTTAAAAAGGAAAAAAAACCATGAATCAAATAAGTATTGACTTCCGTTTCACTGGTATTT
TGACTGATAAAAAAGGGAAGAGGGAGCGGGCATACCAAGTGTCCTTCTAAGCCTCCATCAGCCT
CACCATGGAAAGAGAGGAATCTGGGTGTAGGGTGTTCTGTTGGGGGTTGTTAGAGAAAAGGAGG
CAGGAGAAGGGGCTCTGTTTGTTGTGCTCTAGCAATTTCATGGAGGAAAAACACGCTAATATTC
TTAATGCTTTTCAGCTGATTTCTGTATAACAGGCAAATGATAGGATTACTCTGTAAAGTTTCAT
AGAAAGATTAACGCTGAGCAGTCAA

hide sequence

Protein Sequences


Protein RefSeqs	NP_003947	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAC97481	(Get FASTA)	NCBI Sequence Viewer
	AAC97483	(Get FASTA)	NCBI Sequence Viewer
	AAH17843	(Get FASTA)	NCBI Sequence Viewer
	AAH72430	(Get FASTA)	NCBI Sequence Viewer
	BAG37380	(Get FASTA)	NCBI Sequence Viewer
	CAR81282	(Get FASTA)	NCBI Sequence Viewer
	CBX84760	(Get FASTA)	NCBI Sequence Viewer
	EAW50146	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000360918
	ENSP00000360918.2
GenBank Protein	O95992	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:

NP_003947 ⟸ NM_003956

- UniProtKB:

B2RBY3 (UniProtKB/Swiss-Prot), O95992 (UniProtKB/Swiss-Prot)

- Sequence:

show sequence

MSCHNCSDPQVLCSSGQLFLQPLWDHLRSWEALLQSPFFPVIFSITTYVGFCLPFVVLDILCSW
VPALRRYKIHPDFSPSAQQLLPCLGQTLYQHVMFVFPVTLLHWARSPALLPHEAPELLLLLHHI
LFCLLLFDMEFFVWHLLHHKVPWLYRTFHKVHHQNSSSFALATQYMSVWELFSLGFFDMMNVTL
LGCHPLTTLTFHVVNIWLSVEDHSGYNFPWSTHRLVPFGWYGGVVHHDLHHSHFNCNFAPYFTH
WDKILGTLRTASVPAR

hide sequence

RefSeq Acc Id:

ENSP00000360918 ⟸ ENST00000371852

Protein Domains

Fatty acid hydroxylase

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-O95992-F1-model_v2	AlphaFold	O95992	1-272	view protein structure

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:1907	AgrOrtholog
COSMIC	CH25H	COSMIC
Ensembl Genes	ENSG00000138135	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000371852	ENTREZGENE
	ENST00000371852.4	UniProtKB/Swiss-Prot
GTEx	ENSG00000138135	GTEx
HGNC ID	HGNC:1907	ENTREZGENE
Human Proteome Map	CH25H	Human Proteome Map
InterPro	Fatty_acid_hydroxylase	UniProtKB/Swiss-Prot
KEGG Report	hsa:9023	UniProtKB/Swiss-Prot
NCBI Gene	9023	ENTREZGENE
OMIM	604551	OMIM
PANTHER	CHOLESTEROL 25-HYDROXYLASE	UniProtKB/Swiss-Prot
	STEROL DESATURASE	UniProtKB/Swiss-Prot
Pfam	FA_hydroxylase	UniProtKB/Swiss-Prot
PharmGKB	PA26443	PharmGKB
UniProt	B2RBY3	ENTREZGENE
	CH25H_HUMAN	UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary	B2RBY3	UniProtKB/Swiss-Prot

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

Imported Disease Annotations - ClinVar

Imported Annotations - SMPDB

Imported Annotations - KEGG (archival)

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Imported Disease Annotations - ClinVar

Imported Annotations - SMPDB

Imported Annotations - KEGG (archival)