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Gene: C18orf63 (chromosome 18 open reading frame 63) Homo sapiens

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Symbol:

C18orf63

Name:

chromosome 18 open reading frame 63

RGD ID:

5132403

HGNC Page

HGNC:40037

Description:

ASSOCIATED WITH chromosome 18q deletion syndrome; Intestinal malrotation; intestinal volvulus; INTERACTS WITH 2-palmitoylglycerol; tebuconazole

Type:

protein-coding

RefSeq Status:

VALIDATED

Previously known as:

DKFZP781G0119; hypothetical protein LOC644041; uncharacterized protein C18orf63

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	18	74,315,839 - 74,359,189 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	18	74,315,839 - 74,359,189 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	18	71,983,074 - 72,026,424 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	18	70,134,026 - 70,177,404 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	18	68,850,455 - 68,893,768 (+)	NCBI		Celera
Cytogenetic Map	18	q22.3	NCBI
HuRef	18	68,715,345 - 68,758,653 (+)	NCBI		HuRef
CHM1_1	18	71,978,309 - 72,021,621 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	18	74,543,390 - 74,586,735 (+)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
C18orf63	Human	chromosome 18q deletion syndrome		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Monosomy 18q and deletion 18q	ClinVar	PMID:25741868
C18orf63	Human	chromosome 18q deletion syndrome		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Monosomy 18q and deletion 18q	ClinVar	PMID:31690835
C18orf63	Human	intestinal volvulus		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: INTESTINAL MALROTATION and FAMILIAL	ClinVar	PMID:25741868
C18orf63	Human	Neurodevelopmental Disorders		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Neurodevelopmental disorder	ClinVar	PMID:25741868
C18orf63	Human	pulmonary valve stenosis		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Pulmonary valve stenosis	ClinVar	PMID:25741868
C18orf63	Human	Volvulus Of Midgut		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Volvulus of midgut	ClinVar	PMID:25741868

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
C18orf63	Human	2-palmitoylglycerol	increases expression	EXP		6480464	2-palmitoylglycerol results in increased expression of C18ORF63 mRNA	CTD	PMID:37199045
C18orf63	Human	tebuconazole	increases expression	EXP		6480464	tebuconazole results in increased expression of C18ORF63 mRNA	CTD	PMID:30458266

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
C18orf63	Human	Intestinal malrotation		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Malrotation	ClinVar	PMID:25741868
C18orf63	Human	Pulmonic stenosis		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Pulmonary valve stenosis	ClinVar	PMID:25741868

PMID:29507755	PMID:35013218	PMID:36517590	PMID:37314216

C18orf63
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	18	74,315,839 - 74,359,189 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	18	74,315,839 - 74,359,189 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	18	71,983,074 - 72,026,424 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	18	70,134,026 - 70,177,404 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	18	68,850,455 - 68,893,768 (+)	NCBI		Celera
Cytogenetic Map	18	q22.3	NCBI
HuRef	18	68,715,345 - 68,758,653 (+)	NCBI		HuRef
CHM1_1	18	71,978,309 - 72,021,621 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	18	74,543,390 - 74,586,735 (+)	NCBI		T2T-CHM13v2.0

Gm17266
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	18	84,813,104 - 84,856,766 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	18	84,816,683 - 84,854,841 (-)	Ensembl		GRCm39 Ensembl
GRCm38	18	84,794,979 - 84,838,641 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	18	84,798,558 - 84,836,716 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	18	84,967,950 - 85,006,108 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
Celera	18	85,864,250 - 85,901,657 (-)	NCBI		Celera
Cytogenetic Map	18	E4	NCBI
cM Map	18	57.53	NCBI

C18h18orf63
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	18	80,434,363 - 80,477,235 (-)	NCBI		GRCr8
mRatBN7.2	18	78,159,334 - 78,202,317 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	18	78,164,661 - 78,202,326 (-)	Ensembl		mRatBN7.2 Ensembl
Rnor_6.0	18	81,644,346 - 81,683,983 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	18	81,644,858 - 81,682,206 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	18	80,644,848 - 80,728,350 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	18	81,366,583 - 81,403,360 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
Celera	18	76,778,682 - 76,818,318 (-)	NCBI		Celera
Cytogenetic Map	18	q12.3	NCBI

CUNH18orf63
(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_004955402	57,753,018 - 57,805,495 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955402	57,753,626 - 57,805,255 (+)	NCBI	ChiLan1.0	ChiLan1.0

C17H18orf63
(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	17	91,851,001 - 91,893,887 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	18	77,543,624 - 77,586,510 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	18	67,700,930 - 67,741,493 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	18	70,981,685 - 71,022,136 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	18	70,981,368 - 71,024,698 (+)	Ensembl	panpan1.1		panPan2

C1H18orf63
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	1	5,028,255 - 5,062,610 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	1	5,030,825 - 5,061,846 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	1	6,035,590 - 6,069,943 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	1	4,838,717 - 4,873,077 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	1	4,842,492 - 4,877,301 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	1	4,877,566 - 4,909,187 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	1	4,833,375 - 4,865,571 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	1	5,002,355 - 5,036,727 (-)	NCBI		UU_Cfam_GSD_1.0

CUNH18orf63
(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_024404944	18,803,913 - 18,849,581 (-)	NCBI		HiC_Itri_2
SpeTri2.0	NW_004936616	4,125,043 - 4,170,685 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

C1H18orf63
(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	149,687,631 - 149,725,161 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	1	149,685,242 - 149,725,523 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	1	166,007,610 - 166,028,797 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

CUNH18orf63
(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	18	5,532,726 - 5,575,198 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	18	5,535,139 - 5,572,666 (-)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666060	20,310,929 - 20,348,254 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

CUNH18orf63
(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_004624806	6,350,054 - 6,384,940 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants in C18orf63
3 total Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 18q21.1-23(chr18:50068129-80252149)x3	copy number gain	See cases [RCV000050989]	Chr18:50068129..80252149 [GRCh38] Chr18:47594499..78010032 [GRCh37] Chr18:45848497..76111023 [NCBI36] Chr18:18q21.1-23	pathogenic
GRCh38/hg38 18q22.1-23(chr18:64950938-80252149)x1	copy number loss	See cases [RCV000050985]	Chr18:64950938..80252149 [GRCh38] Chr18:62618174..78010032 [GRCh37] Chr18:60769154..76111023 [NCBI36] Chr18:18q22.1-23	pathogenic
GRCh38/hg38 18q21.31-23(chr18:56618038-80252149)x1	copy number loss	See cases [RCV000051032]	Chr18:56618038..80252149 [GRCh38] Chr18:54285269..78010032 [GRCh37] Chr18:52436267..76111023 [NCBI36] Chr18:18q21.31-23	pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	copy number gain	See cases [RCV000051048]	Chr18:148963..80252149 [GRCh38] Chr18:148963..78010032 [GRCh37] Chr18:138963..76111023 [NCBI36] Chr18:18p11.32-q23	pathogenic
GRCh38/hg38 18q11.1-23(chr18:20960320-80234429)x3	copy number gain	See cases [RCV000052543]	Chr18:20960320..80234429 [GRCh38] Chr18:18540281..77992312 [GRCh37] Chr18:16794279..76093303 [NCBI36] Chr18:18q11.1-23	pathogenic
GRCh38/hg38 18p11.32-q23(chr18:53345-80209986)x3	copy number gain	See cases [RCV000052501]	Chr18:53345..80209986 [GRCh38] Chr18:53345..77967869 [GRCh37] Chr18:43345..76068860 [NCBI36] Chr18:18p11.32-q23	pathogenic
GRCh38/hg38 18q11.1-23(chr18:20989762-80209986)x3	copy number gain	See cases [RCV000052549]	Chr18:20989762..80209986 [GRCh38] Chr18:18569723..77967869 [GRCh37] Chr18:16823721..76068860 [NCBI36] Chr18:18q11.1-23	pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148763-80252290)x3	copy number gain	See cases [RCV000052507]	Chr18:148763..80252290 [GRCh38] Chr18:148763..78010173 [GRCh37] Chr18:138763..76111164 [NCBI36] Chr18:18p11.32-q23	pathogenic
GRCh38/hg38 18q21.33-23(chr18:63195579-80234429)x3	copy number gain	See cases [RCV000052572]	Chr18:63195579..80234429 [GRCh38] Chr18:60862812..77992312 [GRCh37] Chr18:59013792..76093303 [NCBI36] Chr18:18q21.33-23	pathogenic
GRCh38/hg38 18q22.1-23(chr18:64747528-80252290)x3	copy number gain	See cases [RCV000052573]	Chr18:64747528..80252290 [GRCh38] Chr18:62414764..78010173 [GRCh37] Chr18:60565744..76111164 [NCBI36] Chr18:18q22.1-23	pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148963-80244381)x3	copy number gain	See cases [RCV000052514]	Chr18:148963..80244381 [GRCh38] Chr18:148963..78002264 [GRCh37] Chr18:138963..76103255 [NCBI36] Chr18:18p11.32-q23	pathogenic
GRCh38/hg38 18q21.2-23(chr18:53637007-80252149)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053869]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053869]\|See cases [RCV000053869]	Chr18:53637007..80252149 [GRCh38] Chr18:51163377..78010032 [GRCh37] Chr18:49417375..76111023 [NCBI36] Chr18:18q21.2-23	pathogenic
GRCh38/hg38 18q21.31-23(chr18:56353040-80209986)x1	copy number loss	See cases [RCV000053873]	Chr18:56353040..80209986 [GRCh38] Chr18:54020271..77967869 [GRCh37] Chr18:52171269..76068860 [NCBI36] Chr18:18q21.31-23	pathogenic
GRCh38/hg38 18q21.33-23(chr18:62999696-80209986)x1	copy number loss	See cases [RCV000053875]	Chr18:62999696..80209986 [GRCh38] Chr18:60666929..77967869 [GRCh37] Chr18:58817909..76068860 [NCBI36] Chr18:18q21.33-23	pathogenic
GRCh38/hg38 18q22.1-23(chr18:63988650-80252149)x1	copy number loss	See cases [RCV000053876]	Chr18:63988650..80252149 [GRCh38] Chr18:61655884..78010032 [GRCh37] Chr18:59806864..76111023 [NCBI36] Chr18:18q22.1-23	pathogenic
GRCh38/hg38 18q22.1-23(chr18:67078720-77675655)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053903]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053903]\|See cases [RCV000053903]	Chr18:67078720..77675655 [GRCh38] Chr18:64745957..75387611 [GRCh37] Chr18:62896937..73516599 [NCBI36] Chr18:18q22.1-23	pathogenic
GRCh38/hg38 18q22.2-23(chr18:69288245-80252149)x1	copy number loss	See cases [RCV000053905]	Chr18:69288245..80252149 [GRCh38] Chr18:66955481..78010032 [GRCh37] Chr18:65106461..76111023 [NCBI36] Chr18:18q22.2-23	pathogenic
GRCh38/hg38 18q22.3-23(chr18:74207209-79351148)x1	copy number loss	See cases [RCV000053906]	Chr18:74207209..79351148 [GRCh38] Chr18:71874444..77111148 [GRCh37] Chr18:70025424..75212136 [NCBI36] Chr18:18q22.3-23	pathogenic
GRCh38/hg38 18q21.2-23(chr18:51605752-80252149)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053834]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053834]\|See cases [RCV000053834]	Chr18:51605752..80252149 [GRCh38] Chr18:49132122..78010032 [GRCh37] Chr18:47386120..76111023 [NCBI36] Chr18:18q21.2-23	pathogenic
GRCh38/hg38 18q22.2-23(chr18:69200589-80252149)x1	copy number loss	See cases [RCV000133824]	Chr18:69200589..80252149 [GRCh38] Chr18:66867826..78010032 [GRCh37] Chr18:65018806..76111023 [NCBI36] Chr18:18q22.2-23	pathogenic
GRCh38/hg38 18q21.32-23(chr18:59567681-80252149)x1	copy number loss	See cases [RCV000133689]	Chr18:59567681..80252149 [GRCh38] Chr18:57234913..78010032 [GRCh37] Chr18:55385893..76111023 [NCBI36] Chr18:18q21.32-23	pathogenic
GRCh38/hg38 18p11.32-q23(chr18:149089-80234391)x3	copy number gain	See cases [RCV000134110]	Chr18:149089..80234391 [GRCh38] Chr18:149089..77992274 [GRCh37] Chr18:139089..76093265 [NCBI36] Chr18:18p11.32-q23	pathogenic
GRCh38/hg38 18q22.3-23(chr18:71067804-80252149)x1	copy number loss	See cases [RCV000135818]	Chr18:71067804..80252149 [GRCh38] Chr18:68735040..78010032 [GRCh37] Chr18:66886020..76111023 [NCBI36] Chr18:18q22.3-23	pathogenic
GRCh38/hg38 18q21.33-23(chr18:63306200-80252149)x1	copy number loss	See cases [RCV000135838]	Chr18:63306200..80252149 [GRCh38] Chr18:60973433..78010032 [GRCh37] Chr18:59124413..76111023 [NCBI36] Chr18:18q21.33-23	pathogenic
GRCh38/hg38 18q21.33-23(chr18:61576009-80252149)x1	copy number loss	See cases [RCV000135616]	Chr18:61576009..80252149 [GRCh38] Chr18:59243242..78010032 [GRCh37] Chr18:57394222..76111023 [NCBI36] Chr18:18q21.33-23	pathogenic
GRCh38/hg38 18q22.3-23(chr18:72426712-80252149)x1	copy number loss	See cases [RCV000135539]	Chr18:72426712..80252149 [GRCh38] Chr18:70093947..78010032 [GRCh37] Chr18:68244927..76111023 [NCBI36] Chr18:18q22.3-23	pathogenic
GRCh38/hg38 18q21.2-23(chr18:51190429-80252149)x1	copy number loss	See cases [RCV000135413]	Chr18:51190429..80252149 [GRCh38] Chr18:48716799..78010032 [GRCh37] Chr18:46970797..76111023 [NCBI36] Chr18:18q21.2-23	pathogenic
GRCh38/hg38 18q21.33-23(chr18:61827111-80252149)x1	copy number loss	See cases [RCV000135567]	Chr18:61827111..80252149 [GRCh38] Chr18:59494344..78010032 [GRCh37] Chr18:57645324..76111023 [NCBI36] Chr18:18q21.33-23	pathogenic\|uncertain significance
GRCh38/hg38 18q22.1-23(chr18:67772576-80252149)x1	copy number loss	See cases [RCV000136555]	Chr18:67772576..80252149 [GRCh38] Chr18:65439813..78010032 [GRCh37] Chr18:63590793..76111023 [NCBI36] Chr18:18q22.1-23	pathogenic
GRCh38/hg38 18q22.1-23(chr18:68417596-80252149)x1	copy number loss	See cases [RCV000136122]	Chr18:68417596..80252149 [GRCh38] Chr18:66084833..78010032 [GRCh37] Chr18:64235813..76111023 [NCBI36] Chr18:18q22.1-23	pathogenic
GRCh38/hg38 18q22.1-23(chr18:65693588-80252149)x1	copy number loss	See cases [RCV000136911]	Chr18:65693588..80252149 [GRCh38] Chr18:63360824..78010032 [GRCh37] Chr18:61511804..76111023 [NCBI36] Chr18:18q22.1-23	pathogenic
GRCh38/hg38 18q12.1-23(chr18:32123105-80252149)x3	copy number gain	See cases [RCV000136890]	Chr18:32123105..80252149 [GRCh38] Chr18:29703068..78010032 [GRCh37] Chr18:27957066..76111023 [NCBI36] Chr18:18q12.1-23	pathogenic
GRCh38/hg38 18q21.2-23(chr18:53865057-80252149)x1	copy number loss	See cases [RCV000136674]	Chr18:53865057..80252149 [GRCh38] Chr18:51391427..78010032 [GRCh37] Chr18:49645425..76111023 [NCBI36] Chr18:18q21.2-23	pathogenic
GRCh38/hg38 18q22.1-23(chr18:68830234-80254946)x1	copy number loss	See cases [RCV000137431]	Chr18:68830234..80254946 [GRCh38] Chr18:66497471..78012829 [GRCh37] Chr18:64648451..76113817 [NCBI36] Chr18:18q22.1-23	pathogenic
GRCh38/hg38 18q22.1-23(chr18:65658824-80254946)x1	copy number loss	See cases [RCV000137598]	Chr18:65658824..80254946 [GRCh38] Chr18:63326060..78012829 [GRCh37] Chr18:61477040..76113817 [NCBI36] Chr18:18q22.1-23	pathogenic
GRCh38/hg38 18q22.1-23(chr18:68563422-80254946)x1	copy number loss	See cases [RCV000137379]	Chr18:68563422..80254946 [GRCh38] Chr18:66230659..78012829 [GRCh37] Chr18:64381639..76113817 [NCBI36] Chr18:18q22.1-23	pathogenic
GRCh38/hg38 18q21.1-23(chr18:49199411-80254946)x3	copy number gain	See cases [RCV000137342]	Chr18:49199411..80254946 [GRCh38] Chr18:46725781..78012829 [GRCh37] Chr18:44979779..76113817 [NCBI36] Chr18:18q21.1-23	pathogenic
GRCh38/hg38 18q21.2-23(chr18:55179364-80254946)x1	copy number loss	See cases [RCV000137375]	Chr18:55179364..80254946 [GRCh38] Chr18:52846595..78012829 [GRCh37] Chr18:50997593..76113817 [NCBI36] Chr18:18q21.2-23	pathogenic
GRCh38/hg38 18q12.3-23(chr18:42651392-80254946)x3	copy number gain	See cases [RCV000138034]	Chr18:42651392..80254946 [GRCh38] Chr18:40231357..78012829 [GRCh37] Chr18:38485355..76113817 [NCBI36] Chr18:18q12.3-23	pathogenic
GRCh38/hg38 18q22.1-23(chr18:66190016-80254946)x1	copy number loss	See cases [RCV000137808]	Chr18:66190016..80254946 [GRCh38] Chr18:63857253..78012829 [GRCh37] Chr18:62008233..76113817 [NCBI36] Chr18:18q22.1-23	pathogenic\|likely pathogenic
GRCh38/hg38 18p11.32-q23(chr18:118760-80254946)x3	copy number gain	See cases [RCV000138656]	Chr18:118760..80254946 [GRCh38] Chr18:118760..78012829 [GRCh37] Chr18:108760..76113817 [NCBI36] Chr18:18p11.32-q23	pathogenic\|conflicting data from submitters
GRCh38/hg38 18q22.1-23(chr18:64747728-80254946)x1	copy number loss	See cases [RCV000138707]	Chr18:64747728..80254946 [GRCh38] Chr18:62414964..78012829 [GRCh37] Chr18:60565944..76113817 [NCBI36] Chr18:18q22.1-23	pathogenic
GRCh38/hg38 18q22.3-23(chr18:73332839-80254946)x3	copy number gain	See cases [RCV000138718]	Chr18:73332839..80254946 [GRCh38] Chr18:71000074..78012829 [GRCh37] Chr18:69151054..76113817 [NCBI36] Chr18:18q22.3-23	pathogenic
GRCh38/hg38 18q22.3-23(chr18:73332839-80254946)x1	copy number loss	See cases [RCV000138719]	Chr18:73332839..80254946 [GRCh38] Chr18:71000074..78012829 [GRCh37] Chr18:69151054..76113817 [NCBI36] Chr18:18q22.3-23	pathogenic
GRCh38/hg38 18q22.3-23(chr18:72043906-80254936)x1	copy number loss	See cases [RCV000138491]	Chr18:72043906..80254936 [GRCh38] Chr18:69711141..78012819 [GRCh37] Chr18:67862121..76113807 [NCBI36] Chr18:18q22.3-23	pathogenic
GRCh38/hg38 18q22.2-23(chr18:69650802-80254946)x1	copy number loss	See cases [RCV000138248]	Chr18:69650802..80254946 [GRCh38] Chr18:67318038..78012829 [GRCh37] Chr18:65469018..76113817 [NCBI36] Chr18:18q22.2-23	pathogenic
GRCh38/hg38 18q22.1-23(chr18:66649227-80254936)x1	copy number loss	See cases [RCV000138638]	Chr18:66649227..80254936 [GRCh38] Chr18:64316464..78012819 [GRCh37] Chr18:62467444..76113807 [NCBI36] Chr18:18q22.1-23	pathogenic
GRCh38/hg38 18p11.32-q23(chr18:149089-80254936)x3	copy number gain	See cases [RCV000139397]	Chr18:149089..80254936 [GRCh38] Chr18:149089..78012819 [GRCh37] Chr18:139089..76113807 [NCBI36] Chr18:18p11.32-q23	pathogenic
GRCh38/hg38 18q21.2-23(chr18:52421052-80254946)x1	copy number loss	See cases [RCV000139134]	Chr18:52421052..80254946 [GRCh38] Chr18:49947422..78012829 [GRCh37] Chr18:48201420..76113817 [NCBI36] Chr18:18q21.2-23	pathogenic
GRCh38/hg38 18q21.2-23(chr18:53959828-80254936)x3	copy number gain	See cases [RCV000139496]	Chr18:53959828..80254936 [GRCh38] Chr18:51486198..78012819 [GRCh37] Chr18:49740196..76113807 [NCBI36] Chr18:18q21.2-23	pathogenic
GRCh38/hg38 18q21.32-23(chr18:59996934-80254946)x1	copy number loss	See cases [RCV000139669]	Chr18:59996934..80254946 [GRCh38] Chr18:57664166..78012829 [GRCh37] Chr18:55815146..76113817 [NCBI36] Chr18:18q21.32-23	pathogenic
GRCh38/hg38 18q22.3-23(chr18:71872883-80254946)x3	copy number gain	See cases [RCV000139457]	Chr18:71872883..80254946 [GRCh38] Chr18:69540119..78012829 [GRCh37] Chr18:67691099..76113817 [NCBI36] Chr18:18q22.3-23	pathogenic
GRCh38/hg38 18q21.33-23(chr18:63756916-80254946)x1	copy number loss	See cases [RCV000139464]	Chr18:63756916..80254946 [GRCh38] Chr18:61424150..78012829 [GRCh37] Chr18:59575130..76113817 [NCBI36] Chr18:18q21.33-23	pathogenic
GRCh38/hg38 18q21.33-23(chr18:61613338-80252090)x1	copy number loss	See cases [RCV000141429]	Chr18:61613338..80252090 [GRCh38] Chr18:59280571..78009973 [GRCh37] Chr18:57431551..76110964 [NCBI36] Chr18:18q21.33-23	pathogenic
GRCh38/hg38 18q22.1-23(chr18:68340002-80256240)x1	copy number loss	See cases [RCV000140899]	Chr18:68340002..80256240 [GRCh38] Chr18:66007239..78014123 [GRCh37] Chr18:64158219..76115097 [NCBI36] Chr18:18q22.1-23	pathogenic
GRCh38/hg38 18q21.2-23(chr18:51167159-80256240)x1	copy number loss	See cases [RCV000140925]	Chr18:51167159..80256240 [GRCh38] Chr18:48693529..78014123 [GRCh37] Chr18:46947527..76115097 [NCBI36] Chr18:18q21.2-23	pathogenic
GRCh38/hg38 18p11.32-q23(chr18:136227-80256240)x3	copy number gain	See cases [RCV000142244]	Chr18:136227..80256240 [GRCh38] Chr18:136227..78014123 [GRCh37] Chr18:126227..76115097 [NCBI36] Chr18:18p11.32-q23	pathogenic
GRCh38/hg38 18q12.3-23(chr18:40367455-80256240)x3	copy number gain	See cases [RCV000142227]	Chr18:40367455..80256240 [GRCh38] Chr18:37947419..78014123 [GRCh37] Chr18:36201417..76115097 [NCBI36] Chr18:18q12.3-23	pathogenic
GRCh38/hg38 18q22.1-23(chr18:66456349-80256240)x1	copy number loss	See cases [RCV000142176]	Chr18:66456349..80256240 [GRCh38] Chr18:64123586..78014123 [GRCh37] Chr18:62274566..76115097 [NCBI36] Chr18:18q22.1-23	pathogenic
GRCh38/hg38 18q11.1-22.3(chr18:20962119-74691446)x3	copy number gain	See cases [RCV000143057]	Chr18:20962119..74691446 [GRCh38] Chr18:18542080..72403402 [GRCh37] Chr18:16796078..70532390 [NCBI36] Chr18:18q11.1-22.3	pathogenic
GRCh38/hg38 18q22.1-23(chr18:67686362-80252149)x3	copy number gain	See cases [RCV000142689]	Chr18:67686362..80252149 [GRCh38] Chr18:65353599..78010032 [GRCh37] Chr18:63504579..76111023 [NCBI36] Chr18:18q22.1-23	pathogenic\|likely pathogenic
GRCh38/hg38 18q22.3-23(chr18:72639340-80254946)x1	copy number loss	See cases [RCV000143196]	Chr18:72639340..80254946 [GRCh38] Chr18:70306575..78012829 [GRCh37] Chr18:68457555..76113817 [NCBI36] Chr18:18q22.3-23	pathogenic
GRCh38/hg38 18p11.32-q23(chr18:136226-80256240)x3	copy number gain	See cases [RCV000143218]	Chr18:136226..80256240 [GRCh38] Chr18:136226..78014123 [GRCh37] Chr18:126226..76115097 [NCBI36] Chr18:18p11.32-q23	pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	copy number gain	See cases [RCV000148072]	Chr18:148963..80252149 [GRCh38] Chr18:148963..78010032 [GRCh37] Chr18:138963..76111023 [NCBI36] Chr18:18p11.32-q23	pathogenic
GRCh38/hg38 18q22.1-23(chr18:68857904-80256240)x1	copy number loss	See cases [RCV000143557]	Chr18:68857904..80256240 [GRCh38] Chr18:66525141..78014123 [GRCh37] Chr18:64676121..76115097 [NCBI36] Chr18:18q22.1-23	pathogenic
GRCh37/hg19 18p11.32-q23(chr18:163323-78005236)x3	copy number gain	See cases [RCV000240130]	Chr18:163323..78005236 [GRCh37] Chr18:18p11.32-q23	pathogenic
GRCh37/hg19 18q11.1-23(chr18:18548019-77954165)x3	copy number gain	See cases [RCV000240476]	Chr18:18548019..77954165 [GRCh37] Chr18:18q11.1-23	pathogenic
GRCh37/hg19 18q21.32-23(chr18:58525322-78005236)x3	copy number gain	See cases [RCV000240296]	Chr18:58525322..78005236 [GRCh37] Chr18:18q21.32-23	pathogenic
GRCh37/hg19 18q22.3-23(chr18:71078132-78005236)x3	copy number gain	See cases [RCV000240461]	Chr18:71078132..78005236 [GRCh37] Chr18:18q22.3-23	pathogenic
GRCh37/hg19 18q21.33-23(chr18:59461447-78010032)x1	copy number loss	not provided [RCV000416006]	Chr18:59461447..78010032 [GRCh37] Chr18:18q21.33-23	likely pathogenic
GRCh37/hg19 18q21.33-23(chr18:59332806-78014123)x1	copy number loss	See cases [RCV000449163]	Chr18:59332806..78014123 [GRCh37] Chr18:18q21.33-23	pathogenic
GRCh37/hg19 18q22.1-23(chr18:65648458-78005185)x1	copy number loss	See cases [RCV000446791]	Chr18:65648458..78005185 [GRCh37] Chr18:18q22.1-23	pathogenic
GRCh37/hg19 18q22.1-23(chr18:66593317-78014123)x1	copy number loss	See cases [RCV000447117]	Chr18:66593317..78014123 [GRCh37] Chr18:18q22.1-23	pathogenic
GRCh37/hg19 18p11.32-q23(chr18:136226-78014123)x3	copy number gain	See cases [RCV000446047]	Chr18:136226..78014123 [GRCh37] Chr18:18p11.32-q23	pathogenic
GRCh37/hg19 18q21.33-23(chr18:60641553-78014123)x1	copy number loss	See cases [RCV000447127]	Chr18:60641553..78014123 [GRCh37] Chr18:18q21.33-23	pathogenic
GRCh37/hg19 18q21.33-23(chr18:60796196-78014123)x1	copy number loss	See cases [RCV000446171]	Chr18:60796196..78014123 [GRCh37] Chr18:18q21.33-23	pathogenic
GRCh37/hg19 18p11.32-q23(chr18:163323-78005185)x3	copy number gain	See cases [RCV000445851]	Chr18:163323..78005185 [GRCh37] Chr18:18p11.32-q23	pathogenic
GRCh37/hg19 18q21.2-23(chr18:50224898-78014123)x1	copy number loss	See cases [RCV000510720]	Chr18:50224898..78014123 [GRCh37] Chr18:18q21.2-23	likely pathogenic
GRCh37/hg19 18q21.2-23(chr18:53100584-78014123)x1	copy number loss	See cases [RCV000445943]	Chr18:53100584..78014123 [GRCh37] Chr18:18q21.2-23	pathogenic
GRCh37/hg19 18q21.1-23(chr18:47656799-78014123)x1	copy number loss	See cases [RCV000447931]	Chr18:47656799..78014123 [GRCh37] Chr18:18q21.1-23	pathogenic
GRCh37/hg19 18q21.2-23(chr18:52837852-77989426)x1	copy number loss	See cases [RCV000448656]	Chr18:52837852..77989426 [GRCh37] Chr18:18q21.2-23	pathogenic
GRCh37/hg19 18q12.2-23(chr18:33417216-78014123)x3	copy number gain	See cases [RCV000512081]	Chr18:33417216..78014123 [GRCh37] Chr18:18q12.2-23	pathogenic
GRCh37/hg19 18q21.31-23(chr18:54462182-78014123)x1	copy number loss	See cases [RCV000512059]	Chr18:54462182..78014123 [GRCh37] Chr18:18q21.31-23	pathogenic
GRCh37/hg19 18q21.1-23(chr18:47454437-78014123)x3	copy number gain	See cases [RCV000510655]	Chr18:47454437..78014123 [GRCh37] Chr18:18q21.1-23	pathogenic
GRCh37/hg19 18q21.33-23(chr18:59809990-78014123)x1	copy number loss	See cases [RCV000510685]	Chr18:59809990..78014123 [GRCh37] Chr18:18q21.33-23	pathogenic
GRCh37/hg19 18q21.1-23(chr18:43776770-78014123)x3	copy number gain	See cases [RCV000511394]	Chr18:43776770..78014123 [GRCh37] Chr18:18q21.1-23	pathogenic
GRCh37/hg19 18p11.21-q23(chr18:14869204-78014123)x3	copy number gain	See cases [RCV000512030]	Chr18:14869204..78014123 [GRCh37] Chr18:18p11.21-q23	pathogenic
GRCh37/hg19 18q22.1-23(chr18:64524888-78014123)x1	copy number loss	See cases [RCV000511752]	Chr18:64524888..78014123 [GRCh37] Chr18:18q22.1-23	pathogenic
GRCh37/hg19 18q21.1-23(chr18:46177798-78014123)x1	copy number loss	See cases [RCV000511759]	Chr18:46177798..78014123 [GRCh37] Chr18:18q21.1-23	pathogenic
GRCh37/hg19 18q12.3-23(chr18:42930373-78014123)x3	copy number gain	See cases [RCV000511203]	Chr18:42930373..78014123 [GRCh37] Chr18:18q12.3-23	pathogenic
GRCh37/hg19 18q22.3-23(chr18:70340543-78014123)x1	copy number loss	See cases [RCV000511232]	Chr18:70340543..78014123 [GRCh37] Chr18:18q22.3-23	pathogenic
GRCh37/hg19 18p11.32-q23(chr18:136227-78014123)	copy number gain	See cases [RCV000511189]	Chr18:136227..78014123 [GRCh37] Chr18:18p11.32-q23	pathogenic
GRCh37/hg19 18q22.1-23(chr18:66625843-78014123)x1	copy number loss	See cases [RCV000510824]	Chr18:66625843..78014123 [GRCh37] Chr18:18q22.1-23	pathogenic
GRCh37/hg19 18q21.33-23(chr18:59876469-78014123)x1	copy number loss	See cases [RCV000511105]	Chr18:59876469..78014123 [GRCh37] Chr18:18q21.33-23	pathogenic
Single allele	deletion	Deletion of long arm of chromosome 18 [RCV000768454]	Chr18:58024137..77996821 [GRCh37] Chr18:18q21.32-23	pathogenic
GRCh37/hg19 18q22.1-23(chr18:61802304-78015180)x1	copy number loss	See cases [RCV000515583]	Chr18:61802304..78015180 [GRCh37] Chr18:18q22.1-23	pathogenic
GRCh37/hg19 18q22.1-23(chr18:61673145-78014123)x1	copy number loss	See cases [RCV000512607]	Chr18:61673145..78014123 [GRCh37] Chr18:18q22.1-23	pathogenic
GRCh37/hg19 18q22.2-23(chr18:67431406-78014123)x1	copy number loss	See cases [RCV000512218]	Chr18:67431406..78014123 [GRCh37] Chr18:18q22.2-23	pathogenic
GRCh37/hg19 18q22.1-23(chr18:66593317-78014123)x1	copy number loss	See cases [RCV000512281]	Chr18:66593317..78014123 [GRCh37] Chr18:18q22.1-23	pathogenic
GRCh37/hg19 18q12.1-23(chr18:31879854-78014123)x3	copy number gain	See cases [RCV000512425]	Chr18:31879854..78014123 [GRCh37] Chr18:18q12.1-23	pathogenic
GRCh37/hg19 18q21.32-23(chr18:58768873-78014123)x1	copy number loss	See cases [RCV000512579]	Chr18:58768873..78014123 [GRCh37] Chr18:18q21.32-23	pathogenic
GRCh37/hg19 18q22.3-23(chr18:69968033-78014123)x1	copy number loss	not provided [RCV000684045]	Chr18:69968033..78014123 [GRCh37] Chr18:18q22.3-23	pathogenic
GRCh37/hg19 18q22.1-23(chr18:64610595-78014123)x1	copy number loss	not provided [RCV000684050]	Chr18:64610595..78014123 [GRCh37] Chr18:18q22.1-23	pathogenic
GRCh37/hg19 18q21.31-22.3(chr18:55083032-72743857)x1	copy number loss	not provided [RCV000684056]	Chr18:55083032..72743857 [GRCh37] Chr18:18q21.31-22.3	pathogenic
GRCh37/hg19 18q21.31-23(chr18:55298900-78014123)x1	copy number loss	not provided [RCV000684059]	Chr18:55298900..78014123 [GRCh37] Chr18:18q21.31-23	pathogenic
GRCh37/hg19 18q21.1-23(chr18:46942427-78014123)x1	copy number loss	not provided [RCV000684060]	Chr18:46942427..78014123 [GRCh37] Chr18:18q21.1-23	pathogenic
GRCh37/hg19 18q22.3(chr18:70720102-72235432)x3	copy number gain	not provided [RCV000684025]	Chr18:70720102..72235432 [GRCh37] Chr18:18q22.3	uncertain significance
GRCh37/hg19 18q22.3(chr18:68734452-72023650)x3	copy number gain	not provided [RCV000684035]	Chr18:68734452..72023650 [GRCh37] Chr18:18q22.3	uncertain significance
GRCh37/hg19 18q21.33-23(chr18:60416709-78014123)x1	copy number loss	not provided [RCV000684055]	Chr18:60416709..78014123 [GRCh37] Chr18:18q21.33-23	pathogenic
GRCh37/hg19 18q22.2-23(chr18:67082104-78014123)x1	copy number loss	not provided [RCV000684047]	Chr18:67082104..78014123 [GRCh37] Chr18:18q22.2-23	pathogenic
GRCh37/hg19 18q22.1-23(chr18:64764747-78014123)x1	copy number loss	not provided [RCV000684049]	Chr18:64764747..78014123 [GRCh37] Chr18:18q22.1-23	pathogenic
GRCh37/hg19 18q21.32-23(chr18:56905884-78014123)x1	copy number loss	not provided [RCV000684058]	Chr18:56905884..78014123 [GRCh37] Chr18:18q21.32-23	pathogenic
GRCh37/hg19 18q22.3(chr18:71930888-72132622)x3	copy number gain	not provided [RCV000683980]	Chr18:71930888..72132622 [GRCh37] Chr18:18q22.3	uncertain significance
GRCh37/hg19 18q22.3(chr18:71904763-72504853)x1	copy number loss	not provided [RCV000684005]	Chr18:71904763..72504853 [GRCh37] Chr18:18q22.3	uncertain significance
GRCh37/hg19 18q21.2-23(chr18:52802515-78015180)x1	copy number loss	not provided [RCV000739824]	Chr18:52802515..78015180 [GRCh37] Chr18:18q21.2-23	pathogenic
GRCh37/hg19 18q22.1-23(chr18:64232938-75262263)x1	copy number loss	not provided [RCV000739850]	Chr18:64232938..75262263 [GRCh37] Chr18:18q22.1-23	benign
GRCh37/hg19 18q22.2-23(chr18:68552596-78015180)x1	copy number loss	not provided [RCV000739867]	Chr18:68552596..78015180 [GRCh37] Chr18:18q22.2-23	pathogenic
GRCh37/hg19 18p11.32-q23(chr18:12842-78015180)x3	copy number gain	not provided [RCV000752245]	Chr18:12842..78015180 [GRCh37] Chr18:18p11.32-q23	pathogenic
Single allele	deletion	Intestinal malrotation [RCV000754988]	Chr18:64876751..78015117 [GRCh37] Chr18:18q22.1-23	pathogenic
GRCh37/hg19 18p11.32-q23(chr18:13034-78015180)x3	copy number gain	not provided [RCV000752246]	Chr18:13034..78015180 [GRCh37] Chr18:18p11.32-q23	pathogenic
GRCh37/hg19 18q21.33-23(chr18:60098018-78014123)x1	copy number loss	not provided [RCV001007019]	Chr18:60098018..78014123 [GRCh37] Chr18:18q21.33-23	pathogenic
GRCh37/hg19 18q21.32-23(chr18:57244903-77325446)x1	copy number loss	not provided [RCV000752356]	Chr18:57244903..77325446 [GRCh37] Chr18:18q21.32-23	pathogenic
GRCh37/hg19 18q21.33-23(chr18:59585959-78015180)x1	copy number loss	not provided [RCV000752366]	Chr18:59585959..78015180 [GRCh37] Chr18:18q21.33-23	pathogenic
GRCh37/hg19 18q22.3(chr18:71284637-72117258)x3	copy number gain	not provided [RCV000752403]	Chr18:71284637..72117258 [GRCh37] Chr18:18q22.3	benign
GRCh37/hg19 18q21.2-23(chr18:49460596-78014123)x1	copy number loss	not provided [RCV001007016]	Chr18:49460596..78014123 [GRCh37] Chr18:18q21.2-23	pathogenic
GRCh37/hg19 18q22.1-23(chr18:63247046-78014123)x1	copy number loss	not provided [RCV001007020]	Chr18:63247046..78014123 [GRCh37] Chr18:18q22.1-23	pathogenic
GRCh37/hg19 18q22.2-23(chr18:67551299-78014123)x1	copy number loss	not provided [RCV001007021]	Chr18:67551299..78014123 [GRCh37] Chr18:18q22.2-23	pathogenic
Single allele	deletion	Neurodevelopmental disorder [RCV000787397]	Chr18:62984563..78015117 [GRCh37] Chr18:18q22.1-23	pathogenic
GRCh37/hg19 18q22.1-23(chr18:66620343-74065460)x1	copy number loss	not provided [RCV001007009]	Chr18:66620343..74065460 [GRCh37] Chr18:18q22.1-23	pathogenic
GRCh37/hg19 18q21.32-23(chr18:56750525-78014123)x1	copy number loss	not provided [RCV001007018]	Chr18:56750525..78014123 [GRCh37] Chr18:18q21.32-23	pathogenic
GRCh37/hg19 18q22.3-23(chr18:70011110-78014123)x1	copy number loss	not provided [RCV000847255]	Chr18:70011110..78014123 [GRCh37] Chr18:18q22.3-23	pathogenic
GRCh37/hg19 18q22.3-23(chr18:70011110-78014123)x1	copy number loss	not provided [RCV000847258]	Chr18:70011110..78014123 [GRCh37] Chr18:18q22.3-23	pathogenic
GRCh37/hg19 18q21.31-23(chr18:55458425-78014123)x1	copy number loss	not provided [RCV001007017]	Chr18:55458425..78014123 [GRCh37] Chr18:18q21.31-23	pathogenic
GRCh37/hg19 18q22.3(chr18:69163716-72387913)x3	copy number gain	not provided [RCV000849312]	Chr18:69163716..72387913 [GRCh37] Chr18:18q22.3	uncertain significance
GRCh37/hg19 18q22.3-23(chr18:70212733-78014123)x1	copy number loss	not provided [RCV001007022]	Chr18:70212733..78014123 [GRCh37] Chr18:18q22.3-23	pathogenic
GRCh37/hg19 18q22.3-23(chr18:71740696-78005231)x1	copy number loss	not provided [RCV003312421]	Chr18:71740696..78005231 [GRCh37] Chr18:18q22.3-23	pathogenic
GRCh37/hg19 18q11.2-23(chr18:23626739-78014976)x3	copy number gain	not provided [RCV001537911]	Chr18:23626739..78014976 [GRCh37] Chr18:18q11.2-23	pathogenic
GRCh37/hg19 18q21.31-23(chr18:54285235-77960815)x1	copy number loss	not provided [RCV001531449]	Chr18:54285235..77960815 [GRCh37] Chr18:18q21.31-23	pathogenic
GRCh37/hg19 18q22.1-23(chr18:61994711-74293556)x1	copy number loss	not provided [RCV001007010]	Chr18:61994711..74293556 [GRCh37] Chr18:18q22.1-23	pathogenic
GRCh37/hg19 18q22.3-23(chr18:70383594-78014123)x1	copy number loss	not provided [RCV001007023]	Chr18:70383594..78014123 [GRCh37] Chr18:18q22.3-23	pathogenic
GRCh37/hg19 18q22.1-23(chr18:63747519-78014123)x3	copy number gain	not provided [RCV001259360]	Chr18:63747519..78014123 [GRCh37] Chr18:18q22.1-23	likely pathogenic
GRCh37/hg19 18q22.3-23(chr18:70835154-78014123)x1	copy number loss	not provided [RCV001259363]	Chr18:70835154..78014123 [GRCh37] Chr18:18q22.3-23	pathogenic
Single allele	deletion	Deletion of long arm of chromosome 18 [RCV002280357]	Chr18:61490305..80247612 [GRCh38] Chr18:18q21.33-23	pathogenic
GRCh37/hg19 18q21.2-23(chr18:51925586-78010032)	copy number gain	Global developmental delay [RCV001352665]	Chr18:51925586..78010032 [GRCh37] Chr18:18q21.2-23	pathogenic
GRCh37/hg19 18q21.2-23(chr18:53100584-78014123)	copy number loss	not specified [RCV002052643]	Chr18:53100584..78014123 [GRCh37] Chr18:18q21.2-23	pathogenic
GRCh37/hg19 18q22.1-23(chr18:64340599-77273893)	copy number loss	not specified [RCV002052652]	Chr18:64340599..77273893 [GRCh37] Chr18:18q22.1-23	pathogenic
GRCh37/hg19 18q22.2-23(chr18:68585785-74978794)x1	copy number loss	not provided [RCV001827682]	Chr18:68585785..74978794 [GRCh37] Chr18:18q22.2-23	pathogenic
GRCh37/hg19 18q21.1-23(chr18:47656799-78014123)	copy number loss	not specified [RCV002052636]	Chr18:47656799..78014123 [GRCh37] Chr18:18q21.1-23	pathogenic
GRCh37/hg19 18q21.2-23(chr18:52837852-77989426)	copy number loss	not specified [RCV002052642]	Chr18:52837852..77989426 [GRCh37] Chr18:18q21.2-23	pathogenic
GRCh37/hg19 18p11.32-q23(chr18:136226-78014123)	copy number gain	not specified [RCV002052616]	Chr18:136226..78014123 [GRCh37] Chr18:18p11.32-q23	pathogenic
GRCh37/hg19 18q21.33-23(chr18:59332806-78014123)	copy number loss	not specified [RCV002052649]	Chr18:59332806..78014123 [GRCh37] Chr18:18q21.33-23	pathogenic
GRCh37/hg19 18q21.33-23(chr18:61289055-78014123)	copy number loss	Deletion of long arm of chromosome 18 [RCV002280712]	Chr18:61289055..78014123 [GRCh37] Chr18:18q21.33-23	pathogenic
GRCh37/hg19 18q21.32-23(chr18:58305972-78014123)	copy number loss	not specified [RCV002052647]	Chr18:58305972..78014123 [GRCh37] Chr18:18q21.32-23	pathogenic
GRCh37/hg19 18q22.3(chr18:71087678-72655732)x3	copy number gain	not provided [RCV001834312]	Chr18:71087678..72655732 [GRCh37] Chr18:18q22.3	uncertain significance
GRCh37/hg19 18q22.3(chr18:70320462-72387913)	copy number gain	not specified [RCV002052661]	Chr18:70320462..72387913 [GRCh37] Chr18:18q22.3	uncertain significance
GRCh37/hg19 18q21.2-23(chr18:52675201-78014123)	copy number loss	not specified [RCV002052641]	Chr18:52675201..78014123 [GRCh37] Chr18:18q21.2-23	pathogenic
GRCh37/hg19 18q21.2-23(chr18:53309113-78014123)	copy number loss	not specified [RCV002052646]	Chr18:53309113..78014123 [GRCh37] Chr18:18q21.2-23	pathogenic
GRCh37/hg19 18q22.3-23(chr18:70333866-78014123)	copy number loss	not specified [RCV002052662]	Chr18:70333866..78014123 [GRCh37] Chr18:18q22.3-23	pathogenic
Single allele	deletion	Pulmonary valve stenosis [RCV002247713]	Chr18:69541066..80373285 [GRCh38] Chr18:18q22.2-23	pathogenic
GRCh37/hg19 18p11.32-q23(chr18:1-78077248)	copy number gain	Trisomy 18 [RCV002280660]	Chr18:1..78077248 [GRCh37] Chr18:18p11.32-q23	pathogenic
GRCh37/hg19 18q22.3(chr18:70908956-72391740)x3	copy number gain	not provided [RCV002473788]	Chr18:70908956..72391740 [GRCh37] Chr18:18q22.3	uncertain significance
GRCh37/hg19 18q22.1-23(chr18:66530142-78014123)x1	copy number loss	not provided [RCV002472600]	Chr18:66530142..78014123 [GRCh37] Chr18:18q22.1-23	pathogenic
GRCh37/hg19 18q21.33-23(chr18:61520071-78014123)x1	copy number loss	not provided [RCV002472513]	Chr18:61520071..78014123 [GRCh37] Chr18:18q21.33-23	pathogenic
GRCh37/hg19 18q21.2-23(chr18:53624405-78014123)x1	copy number loss	not provided [RCV002473956]	Chr18:53624405..78014123 [GRCh37] Chr18:18q21.2-23	pathogenic
GRCh37/hg19 18q22.3(chr18:68799420-72639955)x3	copy number gain	not provided [RCV002475565]	Chr18:68799420..72639955 [GRCh37] Chr18:18q22.3	uncertain significance
NM_001174123.2(C18orf63):c.1708G>C (p.Glu570Gln)	single nucleotide variant	not specified [RCV004198070]	Chr18:74353975 [GRCh38] Chr18:72021210 [GRCh37] Chr18:18q22.3	uncertain significance
NM_001174123.2(C18orf63):c.1042G>A (p.Ala348Thr)	single nucleotide variant	not specified [RCV004214909]	Chr18:74353309 [GRCh38] Chr18:72020544 [GRCh37] Chr18:18q22.3	uncertain significance
NM_001174123.2(C18orf63):c.1499C>G (p.Ala500Gly)	single nucleotide variant	not specified [RCV004206759]	Chr18:74353766 [GRCh38] Chr18:72021001 [GRCh37] Chr18:18q22.3	uncertain significance
GRCh37/hg19 18q22.1-23(chr18:66459747-78012829)x1	copy number loss	Deletion of long arm of chromosome 18 [RCV003225711]	Chr18:66459747..78012829 [GRCh37] Chr18:18q22.1-23	pathogenic
GRCh37/hg19 18q22.1-23(chr18:66057406-78014123)	copy number loss	Deletion of long arm of chromosome 18 [RCV003319595]	Chr18:66057406..78014123 [GRCh37] Chr18:18q22.1-23	pathogenic
GRCh37/hg19 18q22.1-23(chr18:63476940-77960815)x1	copy number loss	not provided [RCV003326989]	Chr18:63476940..77960815 [GRCh37] Chr18:18q22.1-23	pathogenic
GRCh37/hg19 18q21.33-23(chr18:60771809-78014123)x1	copy number loss	not provided [RCV003483341]	Chr18:60771809..78014123 [GRCh37] Chr18:18q21.33-23	pathogenic
GRCh37/hg19 18q22.3-23(chr18:71401603-78014123)x1	copy number loss	not provided [RCV003483343]	Chr18:71401603..78014123 [GRCh37] Chr18:18q22.3-23	pathogenic
GRCh37/hg19 18q21.2-23(chr18:48766173-78014123)x1	copy number loss	not specified [RCV003986103]	Chr18:48766173..78014123 [GRCh37] Chr18:18q21.2-23	pathogenic
GRCh37/hg19 18q22.3-23(chr18:69968033-78014123)x1	copy number loss	not specified [RCV003987276]	Chr18:69968033..78014123 [GRCh37] Chr18:18q22.3-23	pathogenic
GRCh37/hg19 18q22.1-23(chr18:63427506-78014123)x1	copy number loss	not specified [RCV003987279]	Chr18:63427506..78014123 [GRCh37] Chr18:18q22.1-23	pathogenic
GRCh37/hg19 18q21.31-23(chr18:55363398-78014123)x1	copy number loss	not specified [RCV003987273]	Chr18:55363398..78014123 [GRCh37] Chr18:18q21.31-23	pathogenic
GRCh37/hg19 18q22.3(chr18:69888150-72001217)x1	copy number loss	not specified [RCV003987285]	Chr18:69888150..72001217 [GRCh37] Chr18:18q22.3	uncertain significance
GRCh37/hg19 18q22.1-23(chr18:65549783-78013728)x3	copy number gain	not provided [RCV004442786]	Chr18:65549783..78013728 [GRCh37] Chr18:18q22.1-23	pathogenic
GRCh37/hg19 18q21.31-23(chr18:56102873-74360560)x3	copy number gain	not provided [RCV004819282]	Chr18:56102873..74360560 [GRCh37] Chr18:18q21.31-23	likely pathogenic
GRCh37/hg19 18q22.2-22.3(chr18:67599841-72655627)x1	copy number loss	not provided [RCV004819900]	Chr18:67599841..72655627 [GRCh37] Chr18:18q22.2-22.3	uncertain significance
GRCh37/hg19 18q11.2-23(chr18:19309942-78014123)x3	copy number gain	not provided [RCV004819319]	Chr18:19309942..78014123 [GRCh37] Chr18:18q11.2-23	pathogenic

Predicted Target Of

	Summary Value
Count of predictions:	923
Count of miRNA genes:	585
Interacting mature miRNAs:	637
Transcripts:	ENST00000579455
Prediction methods:	Miranda
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.

The following QTLs overlap with this region.

RGD ID	Symbol	Name	LOD	P Value	Trait	Sub Trait	Chr	Start	Stop	Species
1549953	MULTSCL1_H	Multiple sclerosis susceptibility QTL 1 (human)	3.42		Multiple sclerosis susceptibility		18	64056270	80373285	Human
597164406	GWAS1260480_H	lipid measurement QTL GWAS1260480 (human)		0.0000005	lipid measurement	blood lipid measurement (CMO:0000050)	18	74325876	74325877	Human

SHGC-147382

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	71,982,406 - 71,982,693	UniSTS	GRCh37
Build 36	18	70,133,386 - 70,133,673	RGD	NCBI36
Celera	18	68,849,751 - 68,850,038	RGD
Cytogenetic Map	18	q22.3	UniSTS
HuRef	18	68,714,641 - 68,714,928	UniSTS
TNG Radiation Hybrid Map	18	29788.0	UniSTS

Click on a value in the shaded box below the category label to view a detailed expression data table for that system.

adipose tissue	alimentary part of gastrointestinal system	appendage	circulatory system	ectoderm	endocrine system	endoderm	exocrine system	hemolymphoid system	hepatobiliary system	integumental system	mesenchyme	mesoderm	musculoskeletal system	nervous system	renal system	reproductive system	respiratory system	sensory system
428	348	399	323	853	214	602	89	256	42	471	1057	1145	3	718	184	578	521	47


RefSeq Transcripts	NM_001174123	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AC008021	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC090398	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068260	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CR749350	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	HC006926	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000579455 ⟹ ENSP00000464330

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	18	74,315,839 - 74,359,189 (+)	Ensembl

RefSeq Acc Id:

NM_001174123 ⟹ NP_001167594

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	18	74,315,839 - 74,359,189 (+)	NCBI
GRCh37	18	71,983,110 - 72,026,422 (+)	RGD
Celera	18	68,850,455 - 68,893,768 (+)	RGD
HuRef	18	68,715,345 - 68,758,653 (+)	RGD
CHM1_1	18	71,978,309 - 72,021,621 (+)	NCBI
T2T-CHM13v2.0	18	74,543,390 - 74,586,735 (+)	NCBI

Sequence:

show sequence

ACTCCGATGAAGGCAGGGCACGCGGGGCGAGCCGGGAGCGTCTCCTGAGGGCAGCGAGGAGGGAGCTGAGGCACGCGGGCTCTCAATCGACGCCCCACAGAGACCAAGAGGCCTGGCCTTGGGGGGCA
GCTGCTTGAAGGAGGCAGAGCGGAAGCGAGGGAGACTGCTGGAGGCCCTGCCGCCCACCCGCCCTTTCCTCCCCCTGAGGAGACGCCTGACGCATCTGCAGTGCAGGAGGCCGTGGGCGTTAGAAGTG
TTGCTTTTCCAGTTTGCCTGATTGCTGAGACACTCAGTCAGGAAAGTATGAATGATTCTAGGCAGCAGTCTCTGTTCTTCATCACACTTCCAGATTTAAACAAACTCTGTGCTGTCAGAATAATACTG
AGTAATAAGGTGGCAGATACTGAGATTAGGACTATACAAATGAAGATGTGCAGGCAATTGCTGTTTTTGCATCAAGATATTCTTACATCACCTGTGTCTGGAATATTAAACCAAATCTGGGTGGTGAT
GGCGATACCATTTTATAAAGCAAGAAAACTTAATGCCTATGTTGAAAAATATGGAGCTAAGATGGAGGCTCCACAAAGAGTAATTCCTGTAATTCTTCAGAACTGCCTGTCATATTCATTCATGGCTA
GACTTGCTCCAGCCTGGAATAGAACTGGTCATCTCTTGATACAAGGAAGAGATTTTCTTTCTCAGATGGGAAAACAAAGTGCTGTTGTATTAAACATCAATGTAACAGAAACTCAAGTTTGTCTAAGT
ATAGAAGCTTGCACAATCAGACTGCCAGCACCTGAGCTAAAAGAGTTTGAGATTTCCCAGAGTATTATAAAGGATTTTCATGCTAACAAGCATGCTGTCATTGAGAGACATTCCATTTTAAGCAACTG
GTGCTACGTTTTGCCAAGTATGAAAATGGGACAAATTATAAATATTTTTCATGCCATCCCCGCTGCCTGTCCTTTTCACTCATATGGAGATTTCCAGAGACACTGGGATGCCCTGTATGGCTATAAAC
TTCCAGGTGATTGTGGAAAAATTAAAATATACTGCAACATCTATTTCAAAATGCTCGGAGAAAGGACCTTCACATATCCTCTCAGTTGCATCAGAAGTCAGCCCATGCAGTTCTTTCCAAGGGTAGAT
TCGGAAGTTGTGTTGAAAAGTTTTCTTTCAGATTTAAAATCTAAACTGCCCCATATATGTGGATTTCCCATAAAGATGACAAGTAAACCATGCTACTACACACAAGAACTAACTAAACCTAATATACA
GGAACACAAAGTCAAGCCACCCAATTTGACCACTAAAAAAATGCTTAGGGCATCTCTGACTCAAGCCACTTCCAGAAAGCCTGCCTGTGCTCAAAGTCTTCTACCATGTTCAGTAGCAGTGGACCACA
AGGTGGAGCTTTCAGTCAGCCAGCCAACATCAGGCATTTTCTCAGCTTTGCATCTCCAGCCAGAGTCTGTTCAGGGTAGAAAGAAATCCCTGTCTATCAGGGCTCCACAAGTACATTCAGAAGTATTA
ATGCCCAACAGAGGAAATACTCAAGTTCAGCACACAAATCTTAGCTCCCAAAGCAACATCACCCCTAAGTTTGTACCAGTTTTCAAAAATAGATTGTTACAAATGAACAAAAATACCTCAGTACTTGG
CAGCCCAAAAAGAAAACAGCATGATGTGACACAATCTAAATTGTTTTCACTCAAAACTAGTATGATCCAGCATGACAAACTGAATTTAGGTCCAGCTATAAAAAACCGTTATAGTAGTAACATTCAGA
TGCAGGCTGCTAACAATTTAAATCAGGAGAATTCCAGACCTCTGCAAGAAAAAAATACAGAGTCTTCTGAAAATATGACAAAATTTCCCTCTTCTCGTGGAAAATCGACTGTGAGTTTAAACAAAAAT
AAGCAACTATCTAATAGTGCAGTATTTGTGGTGTCAAATAACAATTTAGGGGTGGTAAAAAGTGCTGTTGACTTCCAAATGAAAGGAAAAGAAAATTTAACAGGCAAAGGTATAACACAAATTTTAGG
GAAAAGCCATGGGTCACTAAAACTGAAAAGACAGCCACACATTTTTGAATCAGATGGAGAAACCGAAGATCCACGACTGCTACAGCAGCAATCAGAAAATCAAGCTAAAGAAGTTGGTACAAGTGACC
ACAGGTTGATAGTAAGCAAAATAGCCCACAGGTCTAAAAGAAAATTATGTCCAGAGTCTTCCAAAACTTCAAAGAAGCATCATTCCGATACTGTGCACTATGGCCAATCCAGTTCTTCTAAGAAGCAG
ATACTTGACTCGGATAAATCAAAACTTAAGAAATCTCTCATCATTCATAATGCTTAGAACATGGACCTGAAAGAAGGAAATGTCTACCAGAGATGAGCATTCTGAATATAGGATGAACACTCTTCCAG
ATGCCTCTCACACTCCTGTGACCATGAAATCAGCTCTACTTACTGCTGTGGAACCTCCTTTTTCACTTGACAGTTTCTTTTTATTGTTTGCATAGCATCTTGTTGTATGTGGGTTTCTGTATTTAACT
AGTCCCCTATTGATAGACACTTCAGTTCTTCCCAACTTTTCACTATTACAACATCATGTAGTCTGCAGATCTTTGCAAAATATCCAATGATCTTATACAGTAGTTTTGATAGTTGAAAATATCTTTAT
TTTGCCCTTATTGAAATTATCAAACCACATAAAGCACAGATAAGAGTATGAAGAACCTCTAAGTACCTATCACCCAGATCTACCAGTTATTAATATTTTGCCACTGTTTCATCTGTTCCTCACAGACA
TGCTTTTTTTTGCTATAATCTTTTAAAGCAAATTCAAGACATCATATAATTTTACCCATAAACACCAAAGTGTATATATTTCTAACATAAGATATAGTATATTTTTTAAGAAAAAAAGAATGTGTATA
TATATATTACATTTTGGGGATCTCTACTATATCTCTGCAGGCTCACTAAATTTCACTTTTGCTTTTATATGCAAATTAACAGGAAGCCCTGAATAAATGTAAAAGCTATTTCTCAACAAAACTGGAGC
CTTTATTGGGGTGGAGATTTCTGTTTCCACCAGTACTCATTAGCATCTTCTGTGTGCCAGGCAGTGGGGACAACACTGTGTCCATGGCAGAAATGGATGAGACAGCCGTGGCCTGAGCCCCTGAGTGC
TGGTGGTCTAGTCTCAAGCAAATTCATTCTGGGTTCCTGGCACAGACTTAGGGATATGTATGTATTGAAGCATATGTCCAGAATGACCTTCTAGTCCATATTACAAATAAATTATCTAACATTTGAAA
AAAAGAGAAACAGAAGTGGAGCTTCTCAGACAATGAATATTATTCTGGCTTTCAAACATTTTATATGTTTGATATACGAAATATTATATAATTGTTGTAATATATTTAAAAGAAACCAAAATCTTCAT
TGGCTATTCCACTGAAACAATAATTACATAAAAATAGCCACTAGAGATCCAAGTATAAGTTGAACTCTGATTTTGTAAATGTGATTTATTGTCTCCACCACTTTACTAAACCATTGCAATTAAAAGCA
AAAGTAAACAAACTCTCCTTCAAACGTTAAATGTTAACTCCTGCTCCTGAAATTGTGTTTAGTTAATTAATTTGCTATATACCTTTATTGTAAGCATTTCTGTTTTCCAGAATTATCTCTATTTCCCA
ATTATTTTACCATTTTCATAAGGATAAGCATTTTGTCTGAAGCCCATTTTGAGTGTGCTTTTCTCATTCCAAAGTTTGTATTATAGATATCTAGTAGACTGTTATAAAGAGTGGTATGTCATTTTGTT
TATGAGGCTATGGTGAAAATAACATTAGTAAATATGCATTTTTGATGAGCACAGTCATCCACAGCATGTAATCATTCCTAAAACCAGCCTTCCCCACTGTTCCATACATTCCCAGGCCACCTTCCTGC
TACTGCCCAGTCACTATGCCTCAGGTAATGGACACTTACTTTATTATTACACTGAGCAAAATAATGAAAACCATACATCCACTGCTGAAGTGGTATTAACATCTTCCAGTTCTTTATATAAATAATCT
TGATAGCCCCTCCTATACTCCATTAGTGTCTAAAATTTAGAATATATAGTATAGTACTTGAGTTTAGATCAATGTTAACCTACATGGCAAAACCTGCCATGTTTAGTGTATTTTTTTGTATAAAGTAG
GTTTGATTTTTATCTTACAATATTTATCCTAATGAAAGTTATAAAAATATATGCATATATTTATATGTGAGATTTAATATAGATAGGTATATAGATTGTTGATTTCATATTTCATGTTCCAAGAAGAG
GTTCTAGATCAAATTTCTGTGTTCAGAATCACCAGAGAAATCAATTAAGATTTTGGTTCATTTTAAACATTGCAATTTTTGAAAGCCAAGATAATTCCAAATCTAATTAGGGAAAGCTACATTTTACT
TCTTTGTGTAAGTTATTGGTGATTTATATGCAGTATGGACCATCCTCCCCCCAGAAATTATTCTTATATTCCAATTGTGCATTAGTTTTAGAACCATTTTAATTTTAAAACCATAAGAAAATAATTTT
ATGTTTGCCTATGTCCAGGAGCTGAAGAAATCAGCGATTACTTTAAAAAATATATGGCAATGTCAAAATAAATGCCAAGAATCATATTTCTAGGAATGCAAAAGTGCTTCTCATATACTCATATATTA
GGTTTCACAGTATTGGTTGCTTACTATATTTGTTTTTATTTTTATTATATATCATAATTACACATTTTTATTTGCATTTGTTGCTTATTGTAGTAAAAAGGTAAAAAAAAAATGAACTTGTTAATGAT
TAGCTTTTATTTGACTAACCAGTTGACCAATTTTGCTCTGTTTTCAAATTGCATATGATGGGGTATTATGCTGAAACTGCTAATATATTGGGTATTTATTGATACTTAGGAATAGTCAGTATTTATAA
ATATTTAAGAATGTCATGGTCCTTATGTTTTGATGTTTAAAATGTTCACTTTGTTGTACGTTACATAGTGTCTTATTCAAAATTGAAAATAATAAAGGTATTTCTAATAGA

hide sequence


Protein RefSeqs	NP_001167594	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	CAH18203	(Get FASTA)	NCBI Sequence Viewer
	CBH19268	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000464330
	ENSP00000464330.2
GenBank Protein	Q68DL7	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:

NP_001167594 ⟸ NM_001174123

- UniProtKB:

A6NME8 (UniProtKB/Swiss-Prot), Q68DL7 (UniProtKB/Swiss-Prot)

- Sequence:

show sequence

MNDSRQQSLFFITLPDLNKLCAVRIILSNKVADTEIRTIQMKMCRQLLFLHQDILTSPVSGILNQIWVVMAIPFYKARKLNAYVEKYGAKMEAPQRVIPVILQNCLSYSFMARLAPAWNRTGHLLIQG
RDFLSQMGKQSAVVLNINVTETQVCLSIEACTIRLPAPELKEFEISQSIIKDFHANKHAVIERHSILSNWCYVLPSMKMGQIINIFHAIPAACPFHSYGDFQRHWDALYGYKLPGDCGKIKIYCNIYF
KMLGERTFTYPLSCIRSQPMQFFPRVDSEVVLKSFLSDLKSKLPHICGFPIKMTSKPCYYTQELTKPNIQEHKVKPPNLTTKKMLRASLTQATSRKPACAQSLLPCSVAVDHKVELSVSQPTSGIFSA
LHLQPESVQGRKKSLSIRAPQVHSEVLMPNRGNTQVQHTNLSSQSNITPKFVPVFKNRLLQMNKNTSVLGSPKRKQHDVTQSKLFSLKTSMIQHDKLNLGPAIKNRYSSNIQMQAANNLNQENSRPLQ
EKNTESSENMTKFPSSRGKSTVSLNKNKQLSNSAVFVVSNNNLGVVKSAVDFQMKGKENLTGKGITQILGKSHGSLKLKRQPHIFESDGETEDPRLLQQQSENQAKEVGTSDHRLIVSKIAHRSKRKL
CPESSKTSKKHHSDTVHYGQSSSSKKQILDSDKSKLKKSLIIHNA

hide sequence

Ensembl Acc Id:

ENSP00000464330 ⟸ ENST00000579455

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q68DL7-F1-model_v2	AlphaFold	Q68DL7	1-685	view protein structure

Database	Acc Id	Source(s)
COSMIC	C18orf63	COSMIC
Ensembl Genes	ENSG00000206043	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000579455	ENTREZGENE
	ENST00000579455.2	UniProtKB/Swiss-Prot
GTEx	ENSG00000206043	GTEx
HGNC ID	HGNC:40037	ENTREZGENE
Human Proteome Map	C18orf63	Human Proteome Map
InterPro	DUF4708	UniProtKB/Swiss-Prot
KEGG Report	hsa:644041	UniProtKB/Swiss-Prot
NCBI Gene	644041	ENTREZGENE
PANTHER	GENE, 17266-RELATED	UniProtKB/Swiss-Prot
	PTHR28495	UniProtKB/Swiss-Prot
Pfam	DUF4708	UniProtKB/Swiss-Prot
PharmGKB	PA166049057	PharmGKB
UniProt	A6NME8	ENTREZGENE
	CR063_HUMAN	UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary	A6NME8	UniProtKB/Swiss-Prot

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


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


Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
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MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar

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Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar