C15orf48 (chromosome 15 open reading frame 48)

Gene: C15orf48 (chromosome 15 open reading frame 48) Homo sapiens

Analyze

Symbol:

C15orf48

Name:

chromosome 15 open reading frame 48

RGD ID:

1601736

HGNC Page

HGNC:29898

Description:

Predicted to act upstream of or within response to bacterium. Located in nucleus.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

COXFA4L3; cytochrome c oxidase subunit FA4 like 3; FLJ22645; FOAP-11; MGC32925; MIR147B host; MIR147BHG; MISTRAV; mitochondrial stress response antiviral; MOCCI; modulator of cytochrome C oxidase during inflammation; NMES1; normal mucosa of esophagus specific 1; normal mucosa of esophagus-specific gene 1 protein

RGD Orthologs

Alliance Orthologs

More Info

more info ...

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	15	45,430,610 - 45,433,340 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	15	45,430,579 - 45,448,761 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	15	45,722,808 - 45,725,538 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	15	43,510,055 - 43,512,939 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	15	22,614,182 - 22,617,066 (+)	NCBI		Celera
Cytogenetic Map	15	q21.1	NCBI
HuRef	15	22,546,816 - 22,549,736 (+)	NCBI		HuRef
CHM1_1	15	45,841,714 - 45,844,634 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	15	43,238,782 - 43,241,512 (+)	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

AGAT deficiency (IAGP)

Bloom syndrome (IAGP)

colorectal cancer (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

(+)-catechin (EXP)

(-)-epigallocatechin 3-gallate (EXP)

2-hydroxypropanoic acid (EXP)

4,4'-sulfonyldiphenol (EXP)

4-hydroxyphenyl retinamide (ISO)

5-aza-2'-deoxycytidine (EXP)

aflatoxin B1 (EXP)

all-trans-retinoic acid (EXP)

antirheumatic drug (EXP)

aristolochic acid A (EXP)

arsane (EXP)

arsenic atom (EXP)

arsenous acid (EXP)

atrazine (EXP)

benzo[a]pyrene (EXP)

benzo[a]pyrene diol epoxide I (EXP)

bis(2-chloroethyl) sulfide (EXP)

bis(2-ethylhexyl) phthalate (EXP)

bisphenol A (ISO)

bosentan (EXP)

butanal (EXP)

cholesterol (EXP)

chromium(6+) (EXP)

cisplatin (EXP)

crocidolite asbestos (EXP)

cyclosporin A (EXP)

diarsenic trioxide (EXP)

entinostat (EXP)

genistein (EXP)

hydrogen peroxide (EXP)

hydroquinone (EXP)

lipopolysaccharide (EXP)

malathion (EXP)

medroxyprogesterone acetate (EXP)

nickel atom (EXP)

nickel dichloride (EXP)

nickel sulfate (EXP)

ozone (EXP)

paracetamol (EXP)

pentanal (EXP)

phorbol 13-acetate 12-myristate (ISO)

potassium chromate (EXP)

propanal (EXP)

quercetin (EXP)

rac-lactic acid (EXP)

resveratrol (EXP)

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

silicon dioxide (EXP)

silver atom (EXP)

silver(0) (EXP)

sodium arsenate (EXP)

sotorasib (EXP)

trametinib (EXP)

valproic acid (EXP)

zoledronic acid (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

response to bacterium (IEA,ISO)

Cellular Component

membrane (IEA)

mitochondrial respiratory chain complex IV (IBA)

nucleus (IDA,IEA)

Molecular Function

protein binding (IPI)

References

References - curated

#	Reference Title	Reference Citation
1.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions

Additional References at PubMed

PMID:12209954	PMID:12477932	PMID:15489334	PMID:16434596	PMID:18636205	PMID:20877624	PMID:21873635	PMID:21988832	PMID:22464673	PMID:27499296	PMID:27503909	PMID:31536960
PMID:32457219	PMID:32814053	PMID:33837217	PMID:33961781	PMID:34878835

Genomics

Comparative Map Data

C15orf48
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	15	45,430,610 - 45,433,340 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	15	45,430,579 - 45,448,761 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	15	45,722,808 - 45,725,538 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	15	43,510,055 - 43,512,939 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	15	22,614,182 - 22,617,066 (+)	NCBI		Celera
Cytogenetic Map	15	q21.1	NCBI
HuRef	15	22,546,816 - 22,549,736 (+)	NCBI		HuRef
CHM1_1	15	45,841,714 - 45,844,634 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	15	43,238,782 - 43,241,512 (+)	NCBI		T2T-CHM13v2.0

AA467197
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	2	122,479,807 - 122,482,996 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	2	122,478,906 - 122,483,111 (+)	Ensembl		GRCm39 Ensembl
GRCm38	2	122,637,887 - 122,641,076 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	2	122,636,986 - 122,641,191 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	2	122,463,623 - 122,466,812 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	2	122,329,328 - 122,332,519 (+)	NCBI		MGSCv36	mm8
Celera	2	123,816,707 - 123,819,894 (+)	NCBI		Celera
Cytogenetic Map	2	E5	NCBI
cM Map	2	60.64	NCBI

C3h15orf48
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	3	130,173,535 - 130,177,088 (+)	NCBI		GRCr8
mRatBN7.2	3	109,719,952 - 109,723,505 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	3	109,719,897 - 109,724,006 (+)	Ensembl		mRatBN7.2 Ensembl
mRatBN7.2 Ensembl	3	109,719,984 - 109,723,502 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	3	113,616,305 - 113,619,860 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	3	122,211,835 - 122,215,390 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	3	119,872,213 - 119,875,768 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	3	114,772,603 - 114,776,156 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	3	114,772,603 - 114,776,155 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	3	121,310,711 - 121,314,264 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	3	109,610,054 - 109,613,452 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	3	109,515,626 - 109,519,024 (+)	NCBI
Celera	3	108,597,738 - 108,601,531 (+)	NCBI		Celera
Cytogenetic Map	3	q35	NCBI

CUNH15orf48
(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_004955409	8,024,171 - 8,026,496 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955409	8,023,847 - 8,027,043 (-)	NCBI	ChiLan1.0	ChiLan1.0

C16H15orf48
(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	16	34,669,919 - 34,673,960 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	15	38,846,607 - 38,850,645 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	15	24,378,440 - 24,381,280 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	15	42,709,122 - 42,712,056 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	15	42,709,122 - 42,727,209 (+)	Ensembl	panpan1.1		panPan2

C30H15orf48
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1 Ensembl	30	11,795,781 - 11,800,915 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
CanFam3.1 Ensembl	30	11,795,781 - 11,800,915 (+)	NCBI	CanFam3.1		canFam3	CanFam3.1
ROS_Cfam_1.0	30	11,933,399 - 11,938,231 (+)	NCBI		ROS_Cfam_1.0

CUNH15orf48
(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_024408640	90,239,364 - 90,242,501 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936471	8,087,717 - 8,090,242 (+)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936471	8,086,731 - 8,090,540 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

C1H15orf48
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	1	126,304,474 - 126,310,749 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	1	126,304,461 - 126,307,951 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	1	140,915,843 - 140,919,288 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

CUNH15orf48
(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	26	37,780,940 - 37,783,855 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	26	37,781,021 - 37,783,760 (-)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666048	103,279,026 - 103,281,987 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

CUNH15orf48
(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_004624731	13,895,942 - 13,898,889 (-)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624731	13,895,944 - 13,898,944 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in C15orf48
1 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 15q21.1(chr15:44765914-45476854)x3	copy number gain	See cases [RCV000139024]	Chr15:44765914..45476854 [GRCh38] Chr15:45058112..45769052 [GRCh37] Chr15:42845404..43556344 [NCBI36] Chr15:15q21.1	uncertain significance
GRCh38/hg38 15q21.1(chr15:45026980-45579878)x3	copy number gain	See cases [RCV000143255]	Chr15:45026980..45579878 [GRCh38] Chr15:45319178..45872076 [GRCh37] Chr15:43106470..43659368 [NCBI36] Chr15:15q21.1	uncertain significance
GRCh38/hg38 15q21.1(chr15:45032714-45592481)x3	copy number gain	See cases [RCV000143502]	Chr15:45032714..45592481 [GRCh38] Chr15:45324912..45884679 [GRCh37] Chr15:43112204..43671971 [NCBI36] Chr15:15q21.1	uncertain significance
GRCh37/hg19 15q21.1(chr15:45059827-45725363)x3	copy number gain	See cases [RCV000239920]	Chr15:45059827..45725363 [GRCh37] Chr15:15q21.1	uncertain significance
GRCh37/hg19 15q15.3-21.1(chr15:44484701-47475522)x1	copy number loss	See cases [RCV000240380]	Chr15:44484701..47475522 [GRCh37] Chr15:15q15.3-21.1	uncertain significance
GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4	copy number gain	See cases [RCV000447123]	Chr15:41745084..102354798 [GRCh37] Chr15:15q15.1-26.3	pathogenic
GRCh37/hg19 15q15.2-21.2(chr15:42850434-49592633)x1	copy number loss	See cases [RCV000447035]	Chr15:42850434..49592633 [GRCh37] Chr15:15q15.2-21.2	pathogenic
GRCh37/hg19 15q21.1(chr15:45056077-45772114)x3	copy number gain	See cases [RCV000447851]	Chr15:45056077..45772114 [GRCh37] Chr15:15q21.1	uncertain significance
GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	copy number gain	See cases [RCV000447765]	Chr15:20733395..102511616 [GRCh37] Chr15:15q11.2-26.3	pathogenic
GRCh37/hg19 15q15.1-21.2(chr15:41689327-52446981)x1	copy number loss	See cases [RCV000448968]	Chr15:41689327..52446981 [GRCh37] Chr15:15q15.1-21.2	pathogenic
GRCh37/hg19 15q21.1(chr15:45056077-45772114)x3	copy number gain	See cases [RCV000510282]	Chr15:45056077..45772114 [GRCh37] Chr15:15q21.1	uncertain significance
GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3	copy number gain	See cases [RCV000510717]	Chr15:22770422..102429112 [GRCh37] Chr15:15q11.2-26.3	pathogenic
GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)	copy number gain	See cases [RCV000512019]	Chr15:22770422..102429112 [GRCh37] Chr15:15q11.2-26.3	pathogenic
Single allele	duplication	not provided [RCV000677926]	Chr15:31115047..102354857 [GRCh37] Chr15:15q13.2-26.3	pathogenic
GRCh37/hg19 15q15.3-21.3(chr15:43759773-53252240)x1	copy number loss	not provided [RCV000683686]	Chr15:43759773..53252240 [GRCh37] Chr15:15q15.3-21.3	pathogenic
GRCh37/hg19 15q21.1(chr15:45723128-45837269)x3	copy number gain	not provided [RCV000738772]	Chr15:45723128..45837269 [GRCh37] Chr15:15q21.1	benign
GRCh37/hg19 15q21.1(chr15:45142419-45889706)x3	copy number gain	not provided [RCV000751298]	Chr15:45142419..45889706 [GRCh37] Chr15:15q21.1	benign
GRCh37/hg19 15q11.1-26.3(chr15:20016811-102493540)x3	copy number gain	not provided [RCV000751155]	Chr15:20016811..102493540 [GRCh37] Chr15:15q11.1-26.3	pathogenic
GRCh37/hg19 15q11.1-26.3(chr15:20071673-102461162)x3	copy number gain	not provided [RCV000751156]	Chr15:20071673..102461162 [GRCh37] Chr15:15q11.1-26.3	pathogenic
GRCh37/hg19 15q21.1(chr15:45063803-45772378)x3	copy number gain	not provided [RCV000846392]	Chr15:45063803..45772378 [GRCh37] Chr15:15q21.1	uncertain significance
NC_000015.9:g.(?_45656975)_(45884494_?)dup	duplication	Arginine:glycine amidinotransferase deficiency [RCV003107421]	Chr15:45656975..45884494 [GRCh37] Chr15:15q21.1	uncertain significance
GRCh37/hg19 15q21.1(chr15:45056077-45772378)x3	copy number gain	not provided [RCV001259210]	Chr15:45056077..45772378 [GRCh37] Chr15:15q21.1	uncertain significance
NC_000015.9:g.(?_44855319)_(45898712_?)dup	duplication	Arginine:glycine amidinotransferase deficiency [RCV001304383]	Chr15:44855319..45898712 [GRCh37] Chr15:15q21.1	uncertain significance
NC_000015.9:g.(?_32964879)_(91358519_?)dup	duplication	Bloom syndrome [RCV001343104]\|Familial colorectal cancer [RCV001325176]	Chr15:32964879..91358519 [GRCh37] Chr15:15q13.3-26.1	uncertain significance
GRCh37/hg19 15q21.1(chr15:45056077-45772114)	copy number gain	not specified [RCV002052469]	Chr15:45056077..45772114 [GRCh37] Chr15:15q21.1	uncertain significance
GRCh37/hg19 15q15.2-21.2(chr15:42850434-49592633)	copy number loss	not specified [RCV002052466]	Chr15:42850434..49592633 [GRCh37] Chr15:15q15.2-21.2	pathogenic
NM_197955.3(C15orf48):c.64G>C (p.Val22Leu)	single nucleotide variant	not specified [RCV004106721]	Chr15:45431028 [GRCh38] Chr15:45723226 [GRCh37] Chr15:15q21.1	uncertain significance
GRCh38/hg38 15q21.1(chr15:45092835-45433283)	copy number gain	Anomalous pulmonary venous return [RCV003223576]	Chr15:45092835..45433283 [GRCh38] Chr15:15q21.1	uncertain significance
Single allele	deletion	not provided [RCV003448697]	Chr15:41321409..51718601 [GRCh37] Chr15:15q15.1-21.2	pathogenic
GRCh37/hg19 15q11.2-21.2(chr15:22770421-50347130)x3	copy number gain	not specified [RCV003987108]	Chr15:22770421..50347130 [GRCh37] Chr15:15q11.2-21.2	pathogenic

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	713
Count of miRNA genes:	454
Interacting mature miRNAs:	492
Transcripts:	ENST00000344300, ENST00000396650, ENST00000558435, ENST00000558632
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

RH106

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	15	45,725,199 - 45,725,386	UniSTS	GRCh37
Build 36	15	43,512,491 - 43,512,678	RGD	NCBI36
Celera	15	22,616,618 - 22,616,805	RGD
Cytogenetic Map	15	q21.1	UniSTS
HuRef	15	22,549,288 - 22,549,475	UniSTS
GeneMap99-GB4 RH Map	15	156.0	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

843

107

272

1250

112

692

345

628

Low

865

1161

1008

320

869

225

1402

403

768

257

523

1186

841

858

Below cutoff

683

1515

589

178

673

158

1505

1573

2546

221

339

1194

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_032413	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_197955	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AA493534	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AB026707	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC025580	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF228422	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK026298	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC021173	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BM312626	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CA865860	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471082	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068263	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CS300715	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DB447060	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

RefSeq Acc Id:

ENST00000344300 ⟹ ENSP00000341610

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	15	45,430,607 - 45,433,449 (+)	Ensembl

RefSeq Acc Id:

ENST00000396650 ⟹ ENSP00000379887

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	15	45,430,610 - 45,433,340 (+)	Ensembl

RefSeq Acc Id:

ENST00000558435 ⟹ ENSP00000452967

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	15	45,430,579 - 45,448,761 (+)	Ensembl

RefSeq Acc Id:

ENST00000558632

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	15	45,430,611 - 45,431,325 (+)	Ensembl

RefSeq Acc Id:

NM_032413 ⟹ NP_115789

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	15	45,430,610 - 45,433,340 (+)	NCBI
GRCh37	15	45,722,727 - 45,725,647 (+)	NCBI
Build 36	15	43,510,055 - 43,512,939 (+)	NCBI Archive
Celera	15	22,614,182 - 22,617,066 (+)	RGD
HuRef	15	22,546,816 - 22,549,736 (+)	NCBI
CHM1_1	15	45,841,714 - 45,844,634 (+)	NCBI
T2T-CHM13v2.0	15	43,238,782 - 43,241,512 (+)	NCBI

Sequence:

show sequence

CGGTTCCGGGCGTTACCATCGTCCGTGCGCACCGCCCGGCGTCCAGGTGAGTCTCCCATCTGCA
GAGACGCGGACGCGCCGGCCCGCAGTTGGCCTGCGGAGCGCGGTGGACGGTTTGGCGCCCACCA
GGCGATCAATACTTTGGATTTTTAATTTCTAGATTTGGCAATTCTTCGCTGAAGTCATCATGAG
CTTTTTCCAACTCCTGATGAAAAGGAAGGAACTCATTCCCTTGGTGGTGTTCATGACTGTGGCG
GCGGGTGGAGCCTCATCTTTCGCTGTGTATTCTCTTTGGAAAACCGATGTGATCCTTGATCGAA
AAAAAAATCCAGAACCTTGGGAAACTGTGGACCCTACTGTACCTCAAAAGCTTATAACAATCAA
CCAACAATGGAAACCCATTGAAGAGTTGCAAAATGTCCAAAGGGTGACCAAATGACGAGCCCTC
GCCTCTTTCTTCTGAAGAGTACTCTATAAATCTAGTGGAAACATTTCTGCACAAACTAGATTCT
GGACACCAGTGTGCGGAAATGCTTCTGCTACATTTTTAGGGTTTGTCTACATTTTTTGGGCTCT
GGATAAGGAATTAAAGGAGTGCAGCAATAACTGCACTGTCTAAAAGTTTGTGCTTATTTTCTTG
TAAATTTGAATATTGCATATTGAAATTTTTGTTTATGATCTATGAATGTTTTTCTTAAAATTTA
CAAAGCTTTGTAAATTAGATTTTCTTTAATAAAATGCCATTTGTGCAAGATTTCTCAAA

hide sequence

RefSeq Acc Id:

NM_197955 ⟹ NP_922946

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	15	45,430,610 - 45,433,340 (+)	NCBI
GRCh37	15	45,722,727 - 45,725,647 (+)	NCBI
Build 36	15	43,510,055 - 43,512,939 (+)	NCBI Archive
Celera	15	22,614,182 - 22,617,066 (+)	RGD
HuRef	15	22,546,816 - 22,549,736 (+)	NCBI
CHM1_1	15	45,841,714 - 45,844,634 (+)	NCBI
T2T-CHM13v2.0	15	43,238,782 - 43,241,512 (+)	NCBI

Sequence:

show sequence

CGGTTCCGGGCGTTACCATCGTCCGTGCGCACCGCCCGGCGTCCAGATTTGGCAATTCTTCGCT
GAAGTCATCATGAGCTTTTTCCAACTCCTGATGAAAAGGAAGGAACTCATTCCCTTGGTGGTGT
TCATGACTGTGGCGGCGGGTGGAGCCTCATCTTTCGCTGTGTATTCTCTTTGGAAAACCGATGT
GATCCTTGATCGAAAAAAAAATCCAGAACCTTGGGAAACTGTGGACCCTACTGTACCTCAAAAG
CTTATAACAATCAACCAACAATGGAAACCCATTGAAGAGTTGCAAAATGTCCAAAGGGTGACCA
AATGACGAGCCCTCGCCTCTTTCTTCTGAAGAGTACTCTATAAATCTAGTGGAAACATTTCTGC
ACAAACTAGATTCTGGACACCAGTGTGCGGAAATGCTTCTGCTACATTTTTAGGGTTTGTCTAC
ATTTTTTGGGCTCTGGATAAGGAATTAAAGGAGTGCAGCAATAACTGCACTGTCTAAAAGTTTG
TGCTTATTTTCTTGTAAATTTGAATATTGCATATTGAAATTTTTGTTTATGATCTATGAATGTT
TTTCTTAAAATTTACAAAGCTTTGTAAATTAGATTTTCTTTAATAAAATGCCATTTGTGCAAGA
TTTCTCAAA

hide sequence

Protein Sequences


Protein RefSeqs	NP_115789	(Get FASTA)	NCBI Sequence Viewer
	NP_922946	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAH21173	(Get FASTA)	NCBI Sequence Viewer
	AAK00708	(Get FASTA)	NCBI Sequence Viewer
	BAB61021	(Get FASTA)	NCBI Sequence Viewer
	CAK32379	(Get FASTA)	NCBI Sequence Viewer
	EAW77312	(Get FASTA)	NCBI Sequence Viewer
	EAW77313	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000341610
	ENSP00000341610.3
	ENSP00000379887
	ENSP00000379887.2
	ENSP00000452967.1
GenBank Protein	Q9C002	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_922946 ⟸ NM_197955
- UniProtKB:	Q9C002 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MSFFQLLMKRKELIPLVVFMTVAAGGASSFAVYSLWKTDVILDRKKNPEPWETVDPTVPQKLIT INQQWKPIEELQNVQRVTK hide sequence

RefSeq Acc Id:	NP_115789 ⟸ NM_032413
- UniProtKB:	Q9C002 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MSFFQLLMKRKELIPLVVFMTVAAGGASSFAVYSLWKTDVILDRKKNPEPWETVDPTVPQKLIT INQQWKPIEELQNVQRVTK hide sequence

RefSeq Acc Id:

ENSP00000452967 ⟸ ENST00000558435

RefSeq Acc Id:

ENSP00000379887 ⟸ ENST00000396650

RefSeq Acc Id:

ENSP00000341610 ⟸ ENST00000344300

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q9C002-F1-model_v2	AlphaFold	Q9C002	1-83	view protein structure

Promoters

RGD ID:

6792147

Promoter ID:

HG_KWN:21285

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell, Lymphoblastoid

Transcripts:

NM_032413, NM_197955

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	15	43,509,696 - 43,510,196 (+)	MPROMDB

RGD ID:

7229375

Promoter ID:

EPDNEW_H20433

Type:

initiation region

Name:

C15orf48_2

Description:

chromosome 15 open reading frame 48

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H20434

Experiment Methods:

Single-end sequencing.; Paired-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	15	45,430,503 - 45,430,563	EPDNEW

RGD ID:

7229377

Promoter ID:

EPDNEW_H20434

Type:

initiation region

Name:

C15orf48_1

Description:

chromosome 15 open reading frame 48

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H20433

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	15	45,430,611 - 45,430,671	EPDNEW

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:29898	AgrOrtholog
COSMIC	C15orf48	COSMIC
Ensembl Genes	ENSG00000166920	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript	ENST00000344300	ENTREZGENE
	ENST00000344300.3	UniProtKB/Swiss-Prot
	ENST00000396650	ENTREZGENE
	ENST00000396650.7	UniProtKB/Swiss-Prot
	ENST00000558435.5	UniProtKB/TrEMBL
GTEx	ENSG00000166920	GTEx
HGNC ID	HGNC:29898	ENTREZGENE
Human Proteome Map	C15orf48	Human Proteome Map
InterPro	B12D	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	hsa:84419	UniProtKB/Swiss-Prot
NCBI Gene	84419	ENTREZGENE
OMIM	608409	OMIM
PANTHER	NORMAL MUCOSA OF ESOPHAGUS-SPECIFIC GENE 1 PROTEIN	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	PTHR14256	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam	B12D	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA142672265	PharmGKB
UniProt	H0YKW5_HUMAN	UniProtKB/TrEMBL
	NMES1_HUMAN	UniProtKB/Swiss-Prot, ENTREZGENE

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