CUTC (cutC copper transporter) - Rat Genome Database

Name: CUTC
Creator: Rat Genome Database
License: Creative Commons CC BY 4.0
Keywords: Rat Gene RGD Genome

Gene: CUTC (cutC copper transporter) Homo sapiens

Analyze

Symbol:

CUTC

Name:

cutC copper transporter

RGD ID:

1312713

HGNC Page

HGNC:24271

Description:

Enables copper ion binding activity. Involved in protein tetramerization. Located in cytosol; nucleolus; and nucleoplasm.

Type:

protein-coding

RefSeq Status:

VALIDATED

Previously known as:

CGI-32; copper homeostasis protein cutC homolog; cutC copper transporter homolog; cutc copper transporter homolog (e.coli); RP11-483F11.3

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):	Cutc (cutC copper transporter)	HGNC	EggNOG, Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Rattus norvegicus (Norway rat):	Cutc (cutC copper transporter)	HGNC	Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Chinchilla lanigera (long-tailed chinchilla):	Cutc (cutC copper transporter)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	CUTC (cutC copper transporter)	NCBI	Ortholog
Canis lupus familiaris (dog):	CUTC (cutC copper transporter)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Cutc (cutC copper transporter)	NCBI	Ortholog
Sus scrofa (pig):	CUTC (cutC copper transporter)	HGNC	EggNOG, Ensembl, NCBI, OMA, OrthoDB, Panther, Treefam
Chlorocebus sabaeus (green monkey):	CUTC (cutC copper transporter)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Cutc (cutC copper transporter)	NCBI	Ortholog
Other homologs ²
Rattus norvegicus (Norway rat):	Ddx10 (DEAD-box helicase 10)	HGNC	OMA
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Cutc (cutC copper transporter)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Mus musculus (house mouse):	Cutc (cutC copper transporter)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Danio rerio (zebrafish):	cutc (cutC copper transporter homolog (E. coli))	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid\|ZFIN)
Drosophila melanogaster (fruit fly):	CG6136	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Caenorhabditis elegans (roundworm):	cutc-1	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Xenopus tropicalis (tropical clawed frog):	cutc	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Xenopus laevis (African clawed frog):	cutc.L	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	99,732,234 - 99,756,134 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	10	99,702,558 - 99,756,134 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	10	101,491,991 - 101,515,891 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	10	101,481,948 - 101,505,884 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	10	101,481,992 - 101,505,878	NCBI
Celera	10	95,229,343 - 95,253,279 (+)	NCBI		Celera
Cytogenetic Map	10	q24.2	NCBI
HuRef	10	95,119,346 - 95,143,277 (+)	NCBI		HuRef
CHM1_1	10	101,774,443 - 101,798,383 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	10	100,615,224 - 100,639,117 (+)	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

cytochrome-c oxidase deficiency disease (IAGP)

genetic disease (IAGP)

Leigh disease (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

(1->4)-beta-D-glucan (ISO)

1,2-dimethylhydrazine (ISO)

1,3-dinitrobenzene (ISO)

17alpha-ethynylestradiol (ISO)

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

2,4-dinitrotoluene (ISO)

2,6-dinitrotoluene (ISO)

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

5-fluorouracil (EXP)

aristolochic acid A (EXP)

benzo[a]pyrene (ISO)

benzo[a]pyrene diol epoxide I (EXP)

bisphenol A (EXP,ISO)

cisplatin (EXP)

cobalt dichloride (ISO)

copper(II) sulfate (EXP)

cyclosporin A (EXP)

dexamethasone (EXP)

dibutyl phthalate (ISO)

dicrotophos (EXP)

elemental selenium (EXP)

endosulfan (ISO)

enzyme inhibitor (EXP)

ethyl methanesulfonate (EXP)

flutamide (ISO)

formaldehyde (EXP)

gentamycin (ISO)

indometacin (EXP)

ivermectin (EXP)

leflunomide (EXP)

paracetamol (EXP,ISO)

parathion (ISO)

perfluorooctane-1-sulfonic acid (ISO)

quercetin (EXP)

selenium atom (EXP)

silicon dioxide (EXP)

sodium arsenite (EXP)

sodium dichromate (ISO)

sodium fluoride (ISO)

sunitinib (EXP)

tamoxifen (ISO)

tetrachloromethane (ISO)

thioacetamide (ISO)

trichloroethene (ISO)

trichostatin A (EXP)

trovafloxacin (ISO)

valproic acid (EXP)

vitamin E (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

copper ion homeostasis (NAS)

copper ion transport (NAS)

protein tetramerization (IPI)

Cellular Component

cytoplasm (IDA,IEA)

cytosol (IDA)

nucleolus (IDA)

nucleoplasm (IDA)

nucleus (HDA,IDA,IEA)

Molecular Function

copper ion binding (IBA,IDA,IEA,NAS)

metal ion binding (IEA)

protein binding (IPI)

References

References - curated

#	Reference Title	Reference Citation
1.	GOAs Human GO annotations	GOA_HUMAN data from the GO Consortium
2.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions

Additional References at PubMed

PMID:7635807	PMID:10810093	PMID:12477932	PMID:14702039	PMID:15489334	PMID:15635413	PMID:16169070	PMID:16182249	PMID:16189514	PMID:16341674	PMID:18029348	PMID:19878721
PMID:21630459	PMID:21873635	PMID:22412388	PMID:22863883	PMID:23251661	PMID:25416956	PMID:26660891	PMID:27107014	PMID:29117863	PMID:31515488	PMID:32296183	PMID:35156780
PMID:35271311	PMID:35831314	PMID:35944360	PMID:36244648	PMID:36849460

Genomics

Comparative Map Data

CUTC
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	10	99,732,234 - 99,756,134 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	10	99,702,558 - 99,756,134 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	10	101,491,991 - 101,515,891 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	10	101,481,948 - 101,505,884 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	10	101,481,992 - 101,505,878	NCBI
Celera	10	95,229,343 - 95,253,279 (+)	NCBI		Celera
Cytogenetic Map	10	q24.2	NCBI
HuRef	10	95,119,346 - 95,143,277 (+)	NCBI		HuRef
CHM1_1	10	101,774,443 - 101,798,383 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	10	100,615,224 - 100,639,117 (+)	NCBI		T2T-CHM13v2.0

Cutc
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	19	43,741,462 - 43,757,077 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	19	43,741,435 - 43,757,077 (+)	Ensembl		GRCm39 Ensembl
GRCm38	19	43,753,023 - 43,768,638 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	19	43,752,996 - 43,768,638 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	19	43,827,513 - 43,843,128 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	19	43,806,307 - 43,821,942 (+)	NCBI		MGSCv36	mm8
Celera	19	44,540,986 - 44,556,690 (+)	NCBI		Celera
Cytogenetic Map	19	C3	NCBI
cM Map	19	36.67	NCBI

Cutc
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	1	252,571,489 - 252,586,269 (+)	NCBI		GRCr8
mRatBN7.2	1	242,622,281 - 242,637,048 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	1	242,622,276 - 242,637,047 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	1	250,770,987 - 250,785,937 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	1	257,468,037 - 257,482,973 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	1	250,121,136 - 250,136,086 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	1	263,511,537 - 263,526,308 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	1	263,511,537 - 263,526,307 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	1	270,956,594 - 270,971,365 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	1	247,062,300 - 247,077,070 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	1	247,176,706 - 247,191,523 (-)	NCBI
Celera	1	238,441,063 - 238,455,833 (+)	NCBI		Celera
Cytogenetic Map	1	q54	NCBI

Cutc
(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 Ensembl	NW_004955507	5,617,598 - 5,657,848 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955507	5,617,595 - 5,664,131 (+)	NCBI	ChiLan1.0	ChiLan1.0

CUTC
(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	111,641,183 - 111,665,140 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	10	111,646,503 - 111,670,460 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	10	96,349,218 - 96,373,147 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	10	99,841,089 - 99,865,031 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	10	99,841,237 - 99,864,633 (+)	Ensembl	panpan1.1		panPan2

CUTC
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	28	12,624,242 - 12,651,179 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	28	12,624,323 - 12,651,153 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	28	12,807,583 - 12,846,004 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	28	13,091,975 - 13,130,475 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	28	13,091,990 - 13,122,483 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	28	12,638,824 - 12,677,247 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	28	12,669,746 - 12,707,952 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	28	12,811,355 - 12,849,804 (+)	NCBI		UU_Cfam_GSD_1.0

Cutc
(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	34,325,408 - 34,346,035 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936636	362,808 - 385,668 (-)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936636	364,527 - 385,139 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

CUTC
(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	110,895,067 - 110,925,428 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	14	110,895,063 - 110,921,544 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	14	120,341,184 - 120,366,815 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

CUTC
(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	92,797,023 - 92,828,547 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	9	92,797,043 - 92,833,105 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666048	53,798,823 - 53,821,576 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Cutc
(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_female_1.0 Ensembl	NW_004624737	11,452,714 - 11,485,045 (+)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624737	11,452,939 - 11,484,981 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in CUTC
28 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 10q23.33-25.3(chr10:95112607-116776637)x3	copy number gain	See cases [RCV000050747]	Chr10:95112607..116776637 [GRCh38] Chr10:96872364..118383651 [GRCh37] Chr10:96862354..118526138 [NCBI36] Chr10:10q23.33-25.3	pathogenic
GRCh38/hg38 10q24.2-24.31(chr10:99333940-100475567)x3	copy number gain	See cases [RCV000051647]	Chr10:99333940..100475567 [GRCh38] Chr10:101093697..102235324 [GRCh37] Chr10:101083687..102225314 [NCBI36] Chr10:10q24.2-24.31	uncertain significance
GRCh38/hg38 10q24.2(chr10:99716324-99999957)x3	copy number gain	See cases [RCV000051649]	Chr10:99716324..99999957 [GRCh38] Chr10:101476081..101759714 [GRCh37] Chr10:101466071..101749704 [NCBI36] Chr10:10q24.2	uncertain significance
GRCh38/hg38 10q23.33-24.32(chr10:93181201-101356779)x1	copy number loss	See cases [RCV000052565]	Chr10:93181201..101356779 [GRCh38] Chr10:94940958..103116536 [GRCh37] Chr10:94930948..103106526 [NCBI36] Chr10:10q23.33-24.32	pathogenic
GRCh38/hg38 10q23.31-26.3(chr10:91048545-133620674)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053560]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053560]\|See cases [RCV000053560]	Chr10:91048545..133620674 [GRCh38] Chr10:92808302..135434178 [GRCh37] Chr10:92798282..135284168 [NCBI36] Chr10:10q23.31-26.3	pathogenic
GRCh38/hg38 10q24.2-24.31(chr10:99386632-100648221)x3	copy number gain	See cases [RCV000135650]	Chr10:99386632..100648221 [GRCh38] Chr10:101146389..102407978 [GRCh37] Chr10:101136379..102397968 [NCBI36] Chr10:10q24.2-24.31	uncertain significance
NM_015960.3(CUTC):c.61+75G>A	single nucleotide variant	Leigh syndrome [RCV000288170]\|not provided [RCV001653465]	Chr10:99732484 [GRCh38] Chr10:101492241 [GRCh37] Chr10:10q24.2	benign\|likely benign
NM_015960.3(CUTC):c.61+112A>G	single nucleotide variant	Leigh syndrome [RCV000329155]	Chr10:99732521 [GRCh38] Chr10:101492278 [GRCh37] Chr10:10q24.2	uncertain significance
NM_015960.3(CUTC):c.61+46G>C	single nucleotide variant	Leigh syndrome [RCV000378719]	Chr10:99732455 [GRCh38] Chr10:101492212 [GRCh37] Chr10:10q24.2	uncertain significance
NM_015960.3(CUTC):c.61+237T>G	single nucleotide variant	Leigh syndrome [RCV000383808]\|not provided [RCV001612936]	Chr10:99732646 [GRCh38] Chr10:101492403 [GRCh37] Chr10:10q24.2	benign\|likely benign
NM_015960.3(CUTC):c.39G>A (p.Ala13=)	single nucleotide variant	Leigh syndrome [RCV000264245]	Chr10:99732387 [GRCh38] Chr10:101492144 [GRCh37] Chr10:10q24.2	uncertain significance
NM_015960.3(CUTC):c.61+242G>T	single nucleotide variant	Leigh syndrome [RCV000293898]	Chr10:99732651 [GRCh38] Chr10:101492408 [GRCh37] Chr10:10q24.2	uncertain significance
NM_015960.3(CUTC):c.-68G>A	single nucleotide variant	Leigh syndrome [RCV000318410]	Chr10:99732281 [GRCh38] Chr10:101492038 [GRCh37] Chr10:10q24.2	uncertain significance
NM_015960.3(CUTC):c.61+38G>T	single nucleotide variant	Cytochrome-c oxidase deficiency disease [RCV000324202]	Chr10:99732447 [GRCh38] Chr10:101492204 [GRCh37] Chr10:10q24.2	uncertain significance
NM_015960.3(CUTC):c.8G>C (p.Arg3Thr)	single nucleotide variant	Leigh syndrome [RCV000359052]	Chr10:99732356 [GRCh38] Chr10:101492113 [GRCh37] Chr10:10q24.2	uncertain significance
GRCh37/hg19 10q24.2-26.3(chr10:100780957-135427143)x3	copy number gain	See cases [RCV000446733]	Chr10:100780957..135427143 [GRCh37] Chr10:10q24.2-26.3	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 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 10q23.32-26.3(chr10:93283493-135427143)x3	copy number gain	See cases [RCV000510972]	Chr10:93283493..135427143 [GRCh37] Chr10:10q23.32-26.3	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 10q23.32-24.2(chr10:93908171-101809723)x1	copy number loss	See cases [RCV000512315]	Chr10:93908171..101809723 [GRCh37] Chr10:10q23.32-24.2	pathogenic
GRCh37/hg19 10q23.33-26.3(chr10:94346520-135427143)x3	copy number gain	not provided [RCV000683291]	Chr10:94346520..135427143 [GRCh37] Chr10:10q23.33-26.3	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
NM_015960.3(CUTC):c.61+511G>A	single nucleotide variant	not provided [RCV001568463]	Chr10:99732920 [GRCh38] Chr10:101492677 [GRCh37] Chr10:10q24.2	likely benign
NM_015960.3(CUTC):c.-50C>G	single nucleotide variant	Leigh syndrome [RCV001106764]	Chr10:99732299 [GRCh38] Chr10:101492056 [GRCh37] Chr10:10q24.2	uncertain significance
NM_015960.3(CUTC):c.-35A>C	single nucleotide variant	Leigh syndrome [RCV001106765]	Chr10:99732314 [GRCh38] Chr10:101492071 [GRCh37] Chr10:10q24.2	uncertain significance
NM_015960.3(CUTC):c.61+596dup	duplication	not provided [RCV001567700]	Chr10:99732999..99733000 [GRCh38] Chr10:101492756..101492757 [GRCh37] Chr10:10q24.2	likely benign
NM_015960.3(CUTC):c.61+226G>A	single nucleotide variant	Leigh syndrome [RCV001107398]	Chr10:99732635 [GRCh38] Chr10:101492392 [GRCh37] Chr10:10q24.2	uncertain significance
NM_015960.3(CUTC):c.61+230C>T	single nucleotide variant	Leigh syndrome [RCV001107399]	Chr10:99732639 [GRCh38] Chr10:101492396 [GRCh37] Chr10:10q24.2	uncertain significance
NC_000010.10:g.(?_99344461)_(105992004_?)dup	duplication	not provided [RCV003107322]	Chr10:99344461..105992004 [GRCh37] Chr10:10q24.2-25.1	uncertain significance
NC_000010.10:g.(?_100177321)_(101611388_?)del	deletion	not provided [RCV001983006]	Chr10:100177321..101611388 [GRCh37] Chr10:10q24.2	pathogenic
NM_015960.3(CUTC):c.637C>T (p.Leu213Phe)	single nucleotide variant	Inborn genetic diseases [RCV003283785]	Chr10:99754564 [GRCh38] Chr10:101514321 [GRCh37] Chr10:10q24.2	uncertain significance
NM_015960.3(CUTC):c.605G>A (p.Gly202Asp)	single nucleotide variant	Inborn genetic diseases [RCV002841236]	Chr10:99754532 [GRCh38] Chr10:101514289 [GRCh37] Chr10:10q24.2	uncertain significance
NM_015960.3(CUTC):c.745T>C (p.Ser249Pro)	single nucleotide variant	Inborn genetic diseases [RCV002793524]	Chr10:99755662 [GRCh38] Chr10:101515419 [GRCh37] Chr10:10q24.2	uncertain significance
NM_015960.3(CUTC):c.692C>T (p.Ser231Leu)	single nucleotide variant	Inborn genetic diseases [RCV002882389]	Chr10:99754619 [GRCh38] Chr10:101514376 [GRCh37] Chr10:10q24.2	uncertain significance
NM_015960.3(CUTC):c.295A>G (p.Met99Val)	single nucleotide variant	Inborn genetic diseases [RCV002694174]	Chr10:99743254 [GRCh38] Chr10:101503011 [GRCh37] Chr10:10q24.2	uncertain significance
NM_015960.3(CUTC):c.667T>G (p.Cys223Gly)	single nucleotide variant	Inborn genetic diseases [RCV002930799]	Chr10:99754594 [GRCh38] Chr10:101514351 [GRCh37] Chr10:10q24.2	uncertain significance
NM_015960.3(CUTC):c.813C>G (p.Ile271Met)	single nucleotide variant	Inborn genetic diseases [RCV002934380]	Chr10:99755730 [GRCh38] Chr10:101515487 [GRCh37] Chr10:10q24.2	uncertain significance
NM_015960.3(CUTC):c.586A>G (p.Ile196Val)	single nucleotide variant	Inborn genetic diseases [RCV003199525]	Chr10:99750381 [GRCh38] Chr10:101510138 [GRCh37] Chr10:10q24.2	uncertain significance
NM_015960.3(CUTC):c.587T>C (p.Ile196Thr)	single nucleotide variant	Inborn genetic diseases [RCV003203221]	Chr10:99750382 [GRCh38] Chr10:101510139 [GRCh37] Chr10:10q24.2	uncertain significance
NM_015960.3(CUTC):c.326A>G (p.Tyr109Cys)	single nucleotide variant	Inborn genetic diseases [RCV003201480]	Chr10:99743285 [GRCh38] Chr10:101503042 [GRCh37] Chr10:10q24.2	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
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
NM_015960.3(CUTC):c.554T>C (p.Ile185Thr)	single nucleotide variant	Inborn genetic diseases [RCV003264467]	Chr10:99747371 [GRCh38] Chr10:101507128 [GRCh37] Chr10:10q24.2	uncertain significance
GRCh37/hg19 10q23.33-24.2(chr10:94283369-101820913)x1	copy number loss	not specified [RCV003986912]	Chr10:94283369..101820913 [GRCh37] Chr10:10q23.33-24.2	pathogenic
GRCh37/hg19 10q23.33-26.3(chr10:95078198-135427143)x3	copy number gain	not specified [RCV003986893]	Chr10:95078198..135427143 [GRCh37] Chr10:10q23.33-26.3	pathogenic

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	355
Count of miRNA genes:	268
Interacting mature miRNAs:	287
Transcripts:	ENST00000370472, ENST00000370476, ENST00000471520, ENST00000493385
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

D10S2401

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	10	101,515,664 - 101,515,810	UniSTS	GRCh37
Build 36	10	101,505,654 - 101,505,800	RGD	NCBI36
Celera	10	95,253,049 - 95,253,195	RGD
Cytogenetic Map	10	q24.2	UniSTS
HuRef	10	95,143,047 - 95,143,193	UniSTS

RH122013

Human Assembly	Chr	Position (strand)	Source
Cytogenetic Map	10	q24.2	UniSTS
HuRef	10	95,134,311 - 95,134,583	UniSTS
TNG Radiation Hybrid Map	10	47311.0	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

2362

2602

1591

566

1704

411

4344

2095

2989

328

1435

1607

170

1204

2788

Low

389

135

247

102

745

Below cutoff

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_015960	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AF132966	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK001142	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK302507	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK314687	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL133353	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC011016	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC015059	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC021105	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC028948	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BM738181	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CD107559	(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

RefSeq Acc Id:

ENST00000370472 ⟹ ENSP00000359503

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	10	99,732,396 - 99,754,550 (+)	Ensembl

RefSeq Acc Id:

ENST00000370476 ⟹ ENSP00000359507

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	10	99,732,234 - 99,756,134 (+)	Ensembl

RefSeq Acc Id:

ENST00000471520 ⟹ ENSP00000433900

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	10	99,732,281 - 99,755,708 (+)	Ensembl

RefSeq Acc Id:

ENST00000493385

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	10	99,702,558 - 99,743,323 (+)	Ensembl

RefSeq Acc Id:

NM_015960 ⟹ NP_057044

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	10	99,732,234 - 99,756,134 (+)	NCBI
GRCh37	10	101,491,958 - 101,515,894 (+)	RGD
Build 36	10	101,481,948 - 101,505,884 (+)	NCBI Archive
Celera	10	95,229,343 - 95,253,279 (+)	RGD
HuRef	10	95,119,346 - 95,143,277 (+)	ENTREZGENE
CHM1_1	10	101,774,443 - 101,798,383 (+)	NCBI
T2T-CHM13v2.0	10	100,615,224 - 100,639,117 (+)	NCBI

Sequence:

show sequence

GTCGGGGACGCGCGCACGGGCGCGCGCAGCTGTTGACGCGCTTCTTAGCTGGTGCGCGCCGGAG
CCCAAATTCCAAGTGGAAACTGCAGGCGCACGAGGGAGGAACGCGTGGAGCATGAAAAGGCAGG
GGGCCTCCTCTGAGCGAAAACGAGCGCGGATACCGTCCGGGAAGGCCGGAGCAGCAAATGGATT
TCTCATGGAAGTTTGTGTTGATTCAGTGGAATCAGCTGTGAATGCAGAAAGAGGAGGTGCTGAT
CGGATTGAATTATGTTCTGGTTTATCAGAGGGGGGAACTACACCCAGCATGGGTGTCCTTCAAG
TAGTGAAGCAGAGTGTTCAGATCCCAGTTTTTGTGATGATTCGGCCACGGGGAGGTGATTTTTT
GTATTCAGATCGTGAAATTGAGGTGATGAAGGCTGACATTCGTCTTGCCAAGCTTTATGGTGCT
GATGGTTTGGTTTTTGGGGCATTGACTGAAGATGGACACATTGACAAAGAGCTGTGTATGTCCC
TTATGGCTATTTGCCGCCCTCTGCCAGTCACTTTCCACCGAGCCTTTGACATGGTTCATGATCC
AATGGCAGCTCTGGAGACCCTCTTAACCTTGGGATTTGAACGCGTGTTGACCAGTGGATGTGAC
AGTTCAGCATTAGAAGGGCTACCCCTAATAAAGCGACTCATTGAGCAGGCAAAAGGCAGGATTG
TGGTAATGCCAGGAGGTGGTATAACAGACAGAAATCTACAAAGGATCCTTGAGGGTTCAGGTGC
TACAGAATTCCACTGTTCTGCTCGGTCTACTAGAGACTCGGGAATGAAGTTTCGAAATTCATCT
GTTGCCATGGGAGCCTCACTTTCTTGCTCAGAATATTCCCTAAAGGTAACAGATGTGACCAAAG
TAAGGACTTTGAATGCTATCGCAAAGAACATCCTGGTGTAGCCAGACCTCTCTGAGAGACATGG
ATATCACAGGATGAAGGTAGAACTATAATCTGCAATTCTCTATGACACAGCTTTAACCTTCTTC
TCTGGCCAGGACAGTCGCAATCTTTGTTTTAAGTTTCACATGGCCATGGAGAATGTGCCCAAGA
AGAAAAAGAATTTGAAACAGAGATACAGTCACTTCCTTTGCTTAGTCTTACCAGTGATTGTCAT
CATGGTTAAAGCTGGTCTGTGCTTCTTCCATAGACAGAAGCTTAGTCTGTTTTCAGTGGAATTA
ATTGATGAACTGGGAAAATTTTAACTGCATGGTATGAATTCAGAGTGTGACTTAAGGGTCAATT
CAAAGCAGTATTTTGACTTTTCATTTGTAAAATAAAAATTTCCACTATTACA

hide sequence

Protein Sequences


Protein RefSeqs	NP_057044	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAD27741	(Get FASTA)	NCBI Sequence Viewer
	AAH21105	(Get FASTA)	NCBI Sequence Viewer
	AAH28948	(Get FASTA)	NCBI Sequence Viewer
	BAG37239	(Get FASTA)	NCBI Sequence Viewer
	BAG63784	(Get FASTA)	NCBI Sequence Viewer
	EAW49854	(Get FASTA)	NCBI Sequence Viewer
	EAW49855	(Get FASTA)	NCBI Sequence Viewer
	EAW49856	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000359503.4
	ENSP00000359507
	ENSP00000359507.5
	ENSP00000433900.1
GenBank Protein	Q9NTM9	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:

NP_057044 ⟸ NM_015960

- UniProtKB:

Q5TCZ8 (UniProtKB/Swiss-Prot), Q9Y321 (UniProtKB/Swiss-Prot), Q9NTM9 (UniProtKB/Swiss-Prot)

- Sequence:

show sequence

MKRQGASSERKRARIPSGKAGAANGFLMEVCVDSVESAVNAERGGADRIELCSGLSEGGTTPSM
GVLQVVKQSVQIPVFVMIRPRGGDFLYSDREIEVMKADIRLAKLYGADGLVFGALTEDGHIDKE
LCMSLMAICRPLPVTFHRAFDMVHDPMAALETLLTLGFERVLTSGCDSSALEGLPLIKRLIEQA
KGRIVVMPGGGITDRNLQRILEGSGATEFHCSARSTRDSGMKFRNSSVAMGASLSCSEYSLKVT
DVTKVRTLNAIAKNILV

hide sequence

RefSeq Acc Id:

ENSP00000359503 ⟸ ENST00000370472

RefSeq Acc Id:

ENSP00000359507 ⟸ ENST00000370476

RefSeq Acc Id:

ENSP00000433900 ⟸ ENST00000471520

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q9NTM9-F1-model_v2	AlphaFold	Q9NTM9	1-273	view protein structure

Promoters

RGD ID:

7218383

Promoter ID:

EPDNEW_H14937

Type:

initiation region

Name:

CUTC_1

Description:

cutC copper transporter

SO ACC ID:

SO:0000170

Source:

EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	10	99,732,259 - 99,732,319	EPDNEW

RGD ID:

6787568

Promoter ID:

HG_KWN:10826

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

HeLa_S3, K562, Lymphoblastoid, NB4

Transcripts:

ENST00000370472, NM_015960, OTTHUMT00000049813, UC001KQE.2

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	10	101,481,086 - 101,482,157 (+)	MPROMDB

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:24271	AgrOrtholog
COSMIC	CUTC	COSMIC
Ensembl Genes	ENSG00000119929	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript	ENST00000370472.4	UniProtKB/TrEMBL
	ENST00000370476	ENTREZGENE
	ENST00000370476.10	UniProtKB/Swiss-Prot
	ENST00000471520.5	UniProtKB/TrEMBL
Gene3D-CATH	3.20.20.380	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx	ENSG00000119929	GTEx
HGNC ID	HGNC:24271	ENTREZGENE
Human Proteome Map	CUTC	Human Proteome Map
InterPro	Cu_homeostasis_CutC	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	CutC_dom_sf	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	hsa:51076	UniProtKB/Swiss-Prot
NCBI Gene	51076	ENTREZGENE
OMIM	610101	OMIM
PANTHER	COPPER HOMEOSTASIS PROTEIN CUTC HOMOLOG	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	PTHR12598	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam	CutC	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA134901980	PharmGKB
Superfamily-SCOP	SSF110395	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt	A0A0B4J226_HUMAN	UniProtKB/TrEMBL
	CUTC_HUMAN	UniProtKB/Swiss-Prot
	Q5TCZ7_HUMAN	UniProtKB/TrEMBL
	Q5TCZ8	ENTREZGENE
	Q9NTM9	ENTREZGENE
	Q9Y321	ENTREZGENE
UniProt Secondary	B9ZVQ8	UniProtKB/TrEMBL
	Q5TCZ8	UniProtKB/Swiss-Prot
	Q9Y321	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2013-08-06	CUTC	cutC copper transporter	CUTC	cutC copper transporter homolog (E. coli)	Symbol and/or name change	5135510	APPROVED

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)

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Imported Disease Annotations - ClinVar