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Gene: ADAM30 (ADAM metallopeptidase domain 30) Homo sapiens

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Symbol:

ADAM30

Name:

ADAM metallopeptidase domain 30

RGD ID:

1314448

HGNC Page

HGNC:208

Description:

Predicted to enable metalloendopeptidase activity. Predicted to be involved in male gonad development and proteolysis. Predicted to be located in membrane. Predicted to be active in external side of plasma membrane and sperm head plasma membrane.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

a disintegrin and metalloproteinase domain 30; ADAM 30; disintegrin and metalloproteinase domain-containing protein 30; svph4

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	1	119,893,533 - 119,896,515 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	1	119,893,533 - 119,896,515 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	1	120,436,156 - 120,439,138 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	1	120,237,679 - 120,240,636 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	1	120,148,198 - 120,151,155	NCBI
Celera	1	118,666,878 - 118,669,835 (-)	NCBI		Celera
Cytogenetic Map	1	p12	ENTREZGENE
HuRef	1	118,294,693 - 118,297,684 (-)	NCBI		HuRef
CHM1_1	1	120,551,650 - 120,554,641 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	1	119,906,790 - 119,909,772 (-)	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

Hajdu-Cheney syndrome (IAGP)

PHGDH deficiency (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

17beta-estradiol (ISO)

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

Aflatoxin B2 alpha (EXP)

atrazine (EXP)

benzo[a]pyrene (EXP)

bisphenol A (ISO)

dichloroacetic acid (ISO)

epoxiconazole (ISO)

folic acid (ISO)

ozone (ISO)

paracetamol (EXP)

permethrin (EXP)

sodium arsenite (ISO)

Theaflavin 3,3'-digallate (EXP)

titanium dioxide (ISO)

triptonide (ISO)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

male gonad development (IBA)

proteolysis (IBA,IEA)

Cellular Component

endosome (IEA)

external side of plasma membrane (IBA,IEA)

late endosome membrane (IEA)

membrane (IEA,TAS)

plasma membrane (IBA,TAS)

sperm head plasma membrane (IBA,IEA)

Molecular Function

metal ion binding (IEA)

metalloendopeptidase activity (IBA,IEA)

metallopeptidase activity (IEA,TAS)

zinc ion binding (TAS)

References

References - curated

#	Reference Title	Reference Citation
1.	GOAs Human GO annotations	GOA_HUMAN data from the GO Consortium
2.	ClinVar Automated Import and Annotation Pipeline	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions

Additional References at PubMed

PMID:10512762	PMID:12477932	PMID:12975309	PMID:16710414	PMID:18372903	PMID:18591388	PMID:19862325	PMID:21873635	PMID:23128233	PMID:27333034	PMID:28514442	PMID:30021884
PMID:31182584	PMID:33961781	PMID:34857952

Genomics

Comparative Map Data

ADAM30
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	1	119,893,533 - 119,896,515 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	1	119,893,533 - 119,896,515 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	1	120,436,156 - 120,439,138 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	1	120,237,679 - 120,240,636 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	1	120,148,198 - 120,151,155	NCBI
Celera	1	118,666,878 - 118,669,835 (-)	NCBI		Celera
Cytogenetic Map	1	p12	ENTREZGENE
HuRef	1	118,294,693 - 118,297,684 (-)	NCBI		HuRef
CHM1_1	1	120,551,650 - 120,554,641 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	1	119,906,790 - 119,909,772 (-)	NCBI		T2T-CHM13v2.0

Adam30
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	3	98,067,950 - 98,071,485 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	3	98,067,946 - 98,071,485 (+)	Ensembl		GRCm39 Ensembl
GRCm38	3	98,160,634 - 98,164,169 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	3	98,160,630 - 98,164,169 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	3	97,964,735 - 97,967,096 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	3	98,246,217 - 98,248,578 (+)	NCBI		MGSCv36	mm8
Celera	3	99,560,033 - 99,562,394 (+)	NCBI		Celera
Cytogenetic Map	3	F2.2	NCBI
cM Map	3	42.63	NCBI

Adam30
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	2	188,440,918 - 188,444,358 (+)	NCBI		GRCr8
mRatBN7.2	2	185,752,183 - 185,755,623 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	2	185,752,072 - 185,755,599 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	2	193,400,568 - 193,404,009 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	2	191,208,751 - 191,212,192 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	2	186,033,146 - 186,036,587 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	2	200,328,498 - 200,331,938 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	2	200,328,387 - 200,331,914 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	2	219,804,507 - 219,807,947 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	2	192,997,466 - 193,000,906 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
Celera	2	178,242,634 - 178,246,074 (+)	NCBI		Celera
Cytogenetic Map	2	q34	NCBI

ADAM30
(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	1	112,535,910 - 112,542,053 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	1	112,138,361 - 112,144,504 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	1	82,630,734 - 82,633,448 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	1	117,628,391 - 117,631,178 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	1	117,628,573 - 117,631,026 (+)	Ensembl	panpan1.1		panPan2

LOC100682600
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	17	56,768,324 - 56,772,594 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
Dog10K_Boxer_Tasha	17	56,399,802 - 56,401,549 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	17	57,649,632 - 57,651,326 (-)	NCBI		ROS_Cfam_1.0
UMICH_Zoey_3.1	17	56,686,190 - 56,687,884 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	17	56,711,459 - 56,713,150 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	17	57,328,617 - 57,330,326 (-)	NCBI		UU_Cfam_GSD_1.0

Adam30
(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_024405058	2,557,503 - 2,560,461 (+)	NCBI		HiC_Itri_2
SpeTri2.0	NW_004936872	578,616 - 580,853 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

ADAM30
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	4	101,314,710 - 101,316,893 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	4	101,314,710 - 101,316,974 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	4	111,215,977 - 111,218,587 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

ADAM30
(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	20	13,887,509 - 13,890,543 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	20	13,887,666 - 13,890,095 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666038	16,517,240 - 16,520,650 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Variants

Variants in ADAM30
51 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 1p13.1-12(chr1:116059621-120130051)x3	copy number gain	See cases [RCV000051831]	Chr1:116059621..120130051 [GRCh38] Chr1:116602242..120672637 [GRCh37] Chr1:116403765..120474160 [NCBI36] Chr1:1p13.1-12	pathogenic
NM_021794.3(ADAM30):c.1796G>A (p.Gly599Glu)	single nucleotide variant	Malignant melanoma [RCV000064050]	Chr1:119894541 [GRCh38] Chr1:120437164 [GRCh37] Chr1:120238687 [NCBI36] Chr1:1p12	not provided
NM_021794.3(ADAM30):c.1453G>A (p.Asp485Asn)	single nucleotide variant	Malignant melanoma [RCV000064051]	Chr1:119894884 [GRCh38] Chr1:120437507 [GRCh37] Chr1:120239030 [NCBI36] Chr1:1p12	not provided
GRCh38/hg38 1p12(chr1:119816901-119977655)x3	copy number gain	See cases [RCV000136664]	Chr1:119816901..119977655 [GRCh38] Chr1:120359524..120471049 [GRCh37] Chr1:120161047..120321801 [NCBI36] Chr1:1p12	uncertain significance
GRCh38/hg38 1p12(chr1:118752239-119977596)x3	copy number gain	See cases [RCV000140044]	Chr1:118752239..119977596 [GRCh38] Chr1:119294862..120520219 [GRCh37] Chr1:119096385..120321742 [NCBI36] Chr1:1p12	likely benign
GRCh38/hg38 1p12(chr1:119772887-120006962)x3	copy number gain	See cases [RCV000141830]	Chr1:119772887..120006962 [GRCh38] Chr1:120315510..120549585 [GRCh37] Chr1:120117033..120351108 [NCBI36] Chr1:1p12	uncertain significance
GRCh38/hg38 1p21.1-12(chr1:104325484-119977655)x3	copy number gain	See cases [RCV000142953]	Chr1:104325484..119977655 [GRCh38] Chr1:104868106..120471049 [GRCh37] Chr1:104669629..120321801 [NCBI36] Chr1:1p21.1-12	pathogenic
GRCh38/hg38 1p12(chr1:119780904-119977655)x3	copy number gain	See cases [RCV000142879]	Chr1:119780904..119977655 [GRCh38] Chr1:120323527..120471049 [GRCh37] Chr1:120125050..120321801 [NCBI36] Chr1:1p12	uncertain significance
GRCh38/hg38 1p12(chr1:118933857-119977655)x1	copy number loss	See cases [RCV000143206]	Chr1:118933857..119977655 [GRCh38] Chr1:119476480..120471049 [GRCh37] Chr1:119278003..120321801 [NCBI36] Chr1:1p12	uncertain significance
GRCh37/hg19 1p13.2-12(chr1:114507501-120494232)x3	copy number gain	See cases [RCV000449311]	Chr1:114507501..120494232 [GRCh37] Chr1:1p13.2-12	pathogenic
GRCh37/hg19 1p12(chr1:119806427-120438201)x3	copy number gain	See cases [RCV000448151]	Chr1:119806427..120438201 [GRCh37] Chr1:1p12	uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	copy number gain	See cases [RCV000510383]	Chr1:849467..249224684 [GRCh37] Chr1:1p36.33-q44	pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	copy number gain	See cases [RCV000510926]	Chr1:849467..249224684 [GRCh37] Chr1:1p36.33-q44	pathogenic
NM_021794.4(ADAM30):c.1765A>G (p.Thr589Ala)	single nucleotide variant	not specified [RCV004324986]	Chr1:119894572 [GRCh38] Chr1:120437195 [GRCh37] Chr1:1p12	uncertain significance
NM_021794.4(ADAM30):c.537A>G (p.Ile179Met)	single nucleotide variant	not specified [RCV004325637]	Chr1:119895800 [GRCh38] Chr1:120438423 [GRCh37] Chr1:1p12	uncertain significance
NM_021794.4(ADAM30):c.410T>G (p.Phe137Cys)	single nucleotide variant	not specified [RCV004302833]	Chr1:119895927 [GRCh38] Chr1:120438550 [GRCh37] Chr1:1p12	uncertain significance
GRCh37/hg19 1p22.1-11.2(chr1:93837992-121343783)x3	copy number gain	See cases [RCV000512354]	Chr1:93837992..121343783 [GRCh37] Chr1:1p22.1-11.2	pathogenic
GRCh37/hg19 1p12(chr1:120294903-120527495)x3	copy number gain	not provided [RCV000684619]	Chr1:120294903..120527495 [GRCh37] Chr1:1p12	uncertain significance
GRCh37/hg19 1p12(chr1:120315510-120527495)x3	copy number gain	not provided [RCV000684620]	Chr1:120315510..120527495 [GRCh37] Chr1:1p12	uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3	copy number gain	not provided [RCV000736295]	Chr1:47851..249228449 [GRCh37] Chr1:1p36.33-q44	pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3	copy number gain	not provided [RCV000736305]	Chr1:82154..249218992 [GRCh37] Chr1:1p36.33-q44	pathogenic
GRCh37/hg19 1p36.12-12(chr1:20608823-120546301)x3	copy number loss	not provided [RCV000762767]	Chr1:20608823..120546301 [GRCh37] Chr1:1p36.12-12	likely benign
GRCh37/hg19 1p12(chr1:119425395-120527495)x3	copy number gain	not provided [RCV000847309]	Chr1:119425395..120527495 [GRCh37] Chr1:1p12	uncertain significance
NC_000001.10:g.(?_119427355)_(120529725_?)dup	duplication	Hajdu-Cheney syndrome [RCV003120765]\|not provided [RCV001950535]	Chr1:119427355..120529725 [GRCh37] Chr1:1p12	uncertain significance\|no classifications from unflagged records
GRCh37/hg19 1p12(chr1:119584796-120527495)x3	copy number gain	not provided [RCV001834183]	Chr1:119584796..120527495 [GRCh37] Chr1:1p12	uncertain significance
GRCh37/hg19 1p13.3-11.2(chr1:111647582-121343783)	copy number gain	not specified [RCV002053602]	Chr1:111647582..121343783 [GRCh37] Chr1:1p13.3-11.2	pathogenic
NC_000001.10:g.(?_120277237)_(120529725_?)dup	duplication	PHGDH deficiency [RCV003109545]	Chr1:120277237..120529725 [GRCh37] Chr1:1p12	uncertain significance
NM_021794.4(ADAM30):c.1272T>A (p.Asp424Glu)	single nucleotide variant	not specified [RCV004114482]	Chr1:119895065 [GRCh38] Chr1:120437688 [GRCh37] Chr1:1p12	uncertain significance
NM_021794.4(ADAM30):c.320C>A (p.Pro107Gln)	single nucleotide variant	not specified [RCV004171483]	Chr1:119896017 [GRCh38] Chr1:120438640 [GRCh37] Chr1:1p12	uncertain significance
NM_021794.4(ADAM30):c.2309A>G (p.Glu770Gly)	single nucleotide variant	not specified [RCV004135664]	Chr1:119894028 [GRCh38] Chr1:120436651 [GRCh37] Chr1:1p12	uncertain significance
NM_021794.4(ADAM30):c.1687G>A (p.Glu563Lys)	single nucleotide variant	not specified [RCV004147566]	Chr1:119894650 [GRCh38] Chr1:120437273 [GRCh37] Chr1:1p12	likely benign
NM_021794.4(ADAM30):c.2170C>A (p.Pro724Thr)	single nucleotide variant	not specified [RCV004235005]	Chr1:119894167 [GRCh38] Chr1:120436790 [GRCh37] Chr1:1p12	uncertain significance
NM_021794.4(ADAM30):c.1655C>T (p.Ser552Leu)	single nucleotide variant	not specified [RCV004156738]	Chr1:119894682 [GRCh38] Chr1:120437305 [GRCh37] Chr1:1p12	uncertain significance
NM_021794.4(ADAM30):c.983A>G (p.Asn328Ser)	single nucleotide variant	not specified [RCV004236538]	Chr1:119895354 [GRCh38] Chr1:120437977 [GRCh37] Chr1:1p12	uncertain significance
NM_021794.4(ADAM30):c.376A>G (p.Ile126Val)	single nucleotide variant	not specified [RCV004130648]	Chr1:119895961 [GRCh38] Chr1:120438584 [GRCh37] Chr1:1p12	uncertain significance
NM_021794.4(ADAM30):c.2287A>G (p.Lys763Glu)	single nucleotide variant	not specified [RCV004089016]	Chr1:119894050 [GRCh38] Chr1:120436673 [GRCh37] Chr1:1p12	uncertain significance
NM_021794.4(ADAM30):c.426A>C (p.Lys142Asn)	single nucleotide variant	not specified [RCV004161533]	Chr1:119895911 [GRCh38] Chr1:120438534 [GRCh37] Chr1:1p12	uncertain significance
NM_021794.4(ADAM30):c.598A>C (p.Lys200Gln)	single nucleotide variant	not specified [RCV004211894]	Chr1:119895739 [GRCh38] Chr1:120438362 [GRCh37] Chr1:1p12	uncertain significance
NM_021794.4(ADAM30):c.2051C>T (p.Ser684Leu)	single nucleotide variant	not specified [RCV004243647]	Chr1:119894286 [GRCh38] Chr1:120436909 [GRCh37] Chr1:1p12	likely benign
NM_021794.4(ADAM30):c.2125C>T (p.Arg709Trp)	single nucleotide variant	not specified [RCV004246760]	Chr1:119894212 [GRCh38] Chr1:120436835 [GRCh37] Chr1:1p12	uncertain significance
NM_021794.4(ADAM30):c.1481G>T (p.Arg494Leu)	single nucleotide variant	not specified [RCV004154562]	Chr1:119894856 [GRCh38] Chr1:120437479 [GRCh37] Chr1:1p12	uncertain significance
NM_021794.4(ADAM30):c.508C>G (p.Gln170Glu)	single nucleotide variant	not specified [RCV004217519]	Chr1:119895829 [GRCh38] Chr1:120438452 [GRCh37] Chr1:1p12	uncertain significance
NM_021794.4(ADAM30):c.1489A>G (p.Arg497Gly)	single nucleotide variant	not specified [RCV004197742]	Chr1:119894848 [GRCh38] Chr1:120437471 [GRCh37] Chr1:1p12	uncertain significance
NM_021794.4(ADAM30):c.643A>G (p.Arg215Gly)	single nucleotide variant	not specified [RCV004159345]	Chr1:119895694 [GRCh38] Chr1:120438317 [GRCh37] Chr1:1p12	uncertain significance
NM_021794.4(ADAM30):c.1406A>G (p.Tyr469Cys)	single nucleotide variant	not specified [RCV004243844]	Chr1:119894931 [GRCh38] Chr1:120437554 [GRCh37] Chr1:1p12	uncertain significance
NM_021794.4(ADAM30):c.1772A>G (p.Tyr591Cys)	single nucleotide variant	not specified [RCV004138110]	Chr1:119894565 [GRCh38] Chr1:120437188 [GRCh37] Chr1:1p12	uncertain significance
NM_021794.4(ADAM30):c.929G>C (p.Gly310Ala)	single nucleotide variant	not specified [RCV004091283]	Chr1:119895408 [GRCh38] Chr1:120438031 [GRCh37] Chr1:1p12	uncertain significance
NM_021794.4(ADAM30):c.790G>A (p.Val264Ile)	single nucleotide variant	not specified [RCV004255168]	Chr1:119895547 [GRCh38] Chr1:120438170 [GRCh37] Chr1:1p12	uncertain significance
NM_021794.4(ADAM30):c.1360G>A (p.Gly454Arg)	single nucleotide variant	not specified [RCV004268767]	Chr1:119894977 [GRCh38] Chr1:120437600 [GRCh37] Chr1:1p12	uncertain significance
NM_021794.4(ADAM30):c.236C>A (p.Pro79His)	single nucleotide variant	not specified [RCV004335027]	Chr1:119896101 [GRCh38] Chr1:120438724 [GRCh37] Chr1:1p12	uncertain significance
NM_021794.4(ADAM30):c.2329A>G (p.Ser777Gly)	single nucleotide variant	not specified [RCV004361653]	Chr1:119894008 [GRCh38] Chr1:120436631 [GRCh37] Chr1:1p12	uncertain significance
NM_021794.4(ADAM30):c.658A>G (p.Asn220Asp)	single nucleotide variant	not specified [RCV004352926]	Chr1:119895679 [GRCh38] Chr1:120438302 [GRCh37] Chr1:1p12	uncertain significance
NM_021794.4(ADAM30):c.1570G>A (p.Asp524Asn)	single nucleotide variant	not specified [RCV004353031]	Chr1:119894767 [GRCh38] Chr1:120437390 [GRCh37] Chr1:1p12	uncertain significance
NM_021794.4(ADAM30):c.1657A>G (p.Ile553Val)	single nucleotide variant	not specified [RCV004344938]	Chr1:119894680 [GRCh38] Chr1:120437303 [GRCh37] Chr1:1p12	uncertain significance
GRCh37/hg19 1p12(chr1:119426691-120527495)x3	copy number gain	not provided [RCV003484034]	Chr1:119426691..120527495 [GRCh37] Chr1:1p12	uncertain significance
NM_021794.4(ADAM30):c.291G>A (p.Gly97=)	single nucleotide variant	not provided [RCV003406715]	Chr1:119896046 [GRCh38] Chr1:120438669 [GRCh37] Chr1:1p12	likely benign
GRCh37/hg19 1p12(chr1:119425396-120523902)x3	copy number gain	not specified [RCV003987150]	Chr1:119425396..120523902 [GRCh37] Chr1:1p12	uncertain significance
NM_021794.4(ADAM30):c.2257T>C (p.Ser753Pro)	single nucleotide variant	not specified [RCV004444339]	Chr1:119894080 [GRCh38] Chr1:120436703 [GRCh37] Chr1:1p12	uncertain significance
NM_021794.4(ADAM30):c.1046A>T (p.Asp349Val)	single nucleotide variant	not specified [RCV004444280]	Chr1:119895291 [GRCh38] Chr1:120437914 [GRCh37] Chr1:1p12	uncertain significance
NM_021794.4(ADAM30):c.1754T>C (p.Met585Thr)	single nucleotide variant	not specified [RCV004444309]	Chr1:119894583 [GRCh38] Chr1:120437206 [GRCh37] Chr1:1p12	uncertain significance
NM_021794.4(ADAM30):c.1865A>T (p.Asn622Ile)	single nucleotide variant	not specified [RCV004444321]	Chr1:119894472 [GRCh38] Chr1:120437095 [GRCh37] Chr1:1p12	uncertain significance
NM_021794.4(ADAM30):c.1774C>A (p.His592Asn)	single nucleotide variant	not specified [RCV004444316]	Chr1:119894563 [GRCh38] Chr1:120437186 [GRCh37] Chr1:1p12	uncertain significance
NM_021794.4(ADAM30):c.1890G>C (p.Gln630His)	single nucleotide variant	not specified [RCV004444325]	Chr1:119894447 [GRCh38] Chr1:120437070 [GRCh37] Chr1:1p12	uncertain significance
NM_021794.4(ADAM30):c.59C>A (p.Thr20Lys)	single nucleotide variant	not specified [RCV004444374]	Chr1:119896278 [GRCh38] Chr1:120438901 [GRCh37] Chr1:1p12	uncertain significance
NM_021794.4(ADAM30):c.655G>A (p.Val219Met)	single nucleotide variant	not specified [RCV004444377]	Chr1:119895682 [GRCh38] Chr1:120438305 [GRCh37] Chr1:1p12	uncertain significance
NM_021794.4(ADAM30):c.1949G>C (p.Cys650Ser)	single nucleotide variant	not specified [RCV004444328]	Chr1:119894388 [GRCh38] Chr1:120437011 [GRCh37] Chr1:1p12	uncertain significance
NM_021794.4(ADAM30):c.824G>C (p.Arg275Thr)	single nucleotide variant	not specified [RCV004436870]	Chr1:119895513 [GRCh38] Chr1:120438136 [GRCh37] Chr1:1p12	uncertain significance
NM_021794.4(ADAM30):c.790G>C (p.Val264Leu)	single nucleotide variant	not specified [RCV004436868]	Chr1:119895547 [GRCh38] Chr1:120438170 [GRCh37] Chr1:1p12	likely benign
NM_021794.4(ADAM30):c.1810G>A (p.Gly604Ser)	single nucleotide variant	not specified [RCV004612748]	Chr1:119894527 [GRCh38] Chr1:120437150 [GRCh37] Chr1:1p12	uncertain significance
NC_000001.10:g.(?_120254646)_(120512387_?)dup	duplication	Hajdu-Cheney syndrome [RCV004583999]	Chr1:120254646..120512387 [GRCh37] Chr1:1p12	uncertain significance
NM_021794.4(ADAM30):c.388A>G (p.Met130Val)	single nucleotide variant	not specified [RCV004614754]	Chr1:119895949 [GRCh38] Chr1:120438572 [GRCh37] Chr1:1p12	uncertain significance
NM_021794.4(ADAM30):c.1256A>C (p.Glu419Ala)	single nucleotide variant	not specified [RCV004614735]	Chr1:119895081 [GRCh38] Chr1:120437704 [GRCh37] Chr1:1p12	uncertain significance
NM_021794.4(ADAM30):c.1768G>A (p.Gly590Ser)	single nucleotide variant	not specified [RCV004614744]	Chr1:119894569 [GRCh38] Chr1:120437192 [GRCh37] Chr1:1p12	uncertain significance
NM_021794.4(ADAM30):c.1231G>A (p.Glu411Lys)	single nucleotide variant	not specified [RCV004614763]	Chr1:119895106 [GRCh38] Chr1:120437729 [GRCh37] Chr1:1p12	uncertain significance

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	202
Count of miRNA genes:	190
Interacting mature miRNAs:	191
Transcripts:	ENST00000369400
Prediction methods:	Miranda, Rnahybrid
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.

QTLs in Region (GRCh38)

The following QTLs overlap with this region.

RGD ID	Symbol	Name	LOD	P Value	Trait	Sub Trait	Chr	Start	Stop	Species
1300021	BP45_H	Blood pressure QTL 45 (human)	1.77	0.00218	Blood pressure	systolic	1	103389009	129389009	Human

Markers in Region

ADAM30_207

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	1	120,436,561 - 120,437,377	UniSTS	GRCh37
Build 36	1	120,238,084 - 120,238,900	RGD	NCBI36
Celera	1	118,667,283 - 118,668,099	RGD
HuRef	1	118,295,098 - 118,295,914	UniSTS

Expression

RNA-SEQ Expression

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

Download All Expressed Objects for this Gene

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
183	454	544	438	671	313	366	120	208	80	315	1245	1049	2	477	118	605	215	40

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_021794	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AF171932	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF171933	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK292483	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL359752	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY358734	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC028372	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471122	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068277	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	HC006770	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	HC044499	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000369400 ⟹ ENSP00000358407

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	119,893,533 - 119,896,515 (-)	Ensembl

RefSeq Acc Id:

NM_021794 ⟹ NP_068566

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	119,893,533 - 119,896,515 (-)	NCBI
GRCh37	1	120,436,156 - 120,439,147 (-)	ENTREZGENE
Build 36	1	120,237,679 - 120,240,636 (-)	NCBI Archive
Celera	1	118,666,878 - 118,669,835 (-)	RGD
HuRef	1	118,294,693 - 118,297,684 (-)	ENTREZGENE
CHM1_1	1	120,551,650 - 120,554,641 (-)	NCBI
T2T-CHM13v2.0	1	119,906,790 - 119,909,772 (-)	NCBI

Sequence:

show sequence

GCGCATTGCGGACGCCAGCTAGACCGAGCCCTGGGAGGCTACGGGCTCCCCCGGAAACCCTGCC
AGGGGAGCCGGGTTTTGAGCTCAGGCGCCTCTAGCGGCGGCCCCCAGAAATCTGACTCGCGAGG
CCAGAGTTGCAGGGACTGAATAGCAAACTGAGGCTGAGTAGGGAACAGACCATGAGGTCAGTGC
AGATCTTCCTCTCCCAATGCCGTTTGCTCCTTCTACTAGTTCCGACAATGCTCCTTAAGTCTCT
TGGCGAAGATGTAATTTTTCACCCTGAAGGGGAGTTTGACTCGTATGAAGTCACCATTCCTGAG
AAGCTGAGCTTCCGGGGAGAGGTGCAGGGTGTGGTCAGTCCCGTGTCCTACCTACTGCAGTTAA
AAGGCAAGAAGCACGTCCTCCATTTGTGGCCCAAGAGACTTCTGTTGCCCCGACATCTGCGCGT
TTTCTCCTTCACAGAACATGGGGAACTGCTGGAGGATCATCCTTACATACCAAAGGACTGCAAC
TACATGGGCTCCGTGAAAGAGTCTCTGGACTCTAAAGCTACTATAAGCACATGCATGGGGGGTC
TCCGAGGTGTATTTAACATTGATGCCAAACATTACCAAATTGAGCCCCTCAAGGCCTCTCCCAG
TTTTGAACATGTCGTCTATCTCCTGAAGAAAGAGCAGTTTGGGAATCAGGTTTGTGGCTTAAGT
GATGATGAAATAGAATGGCAGATGGCCCCTTATGAGAATAAGGCGAGGCTAAGGGACTTTCCTG
GATCCTATAAACACCCAAAGTACTTGGAATTGATCCTACTCTTTGATCAAAGTAGGTATAGGTT
TGTGAACAACAATCTTTCTCAAGTCATACATGATGCCATTCTTTTGACTGGGATTATGGACACC
TACTTTCAAGATGTTCGTATGAGGATACACTTAAAGGCTCTTGAAGTATGGACAGATTTTAACA
AAATACGCGTTGGATATCCAGAGTTAGCTGAAGTTTTAGGCAGATTTGTAATATATAAAAAAAG
TGTATTAAATGCTCGCCTGTCATCAGATTGGGCACATTTATATCTTCAAAGAAAATATAATGAT
GCTCTTGCATGGTCGTTTGGAAAAGTGTGTTCTCTAGAATATGCTGGATCAGTGAGTACTTTAC
TAGATACAAATATCCTTGCCCCTGCTACCTGGTCTGCTCATGAGCTGGGTCATGCTGTAGGAAT
GTCACATGATGAACAATACTGCCAATGTAGGGGTAGGCTTAATTGCATCATGGGCTCAGGACGC
ACTGGGTTTAGCAATTGCAGTTATATCTCTTTTTTTAAACATATCTCTTCGGGAGCAACATGTC
TAAATAATATCCCAGGACTAGGTTATGTGCTTAAGAGATGTGGAAACAAAATTGTGGAGGACAA
TGAGGAATGTGACTGTGGTTCCACAGAGGAGTGTCAGAAAGATCGGTGTTGCCAATCAAATTGT
AAGTTGCAACCAGGTGCCAACTGTAGCATTGGACTTTGCTGTCATGATTGTCGGTTTCGTCCAT
CTGGATACGTGTGTAGGCAGGAAGGAAATGAATGTGACCTTGCAGAGTACTGCGACGGGAATTC
AAGTTCCTGCCCAAATGACGTTTATAAGCAGGATGGAACCCCTTGCAAGTATGAAGGCCGTTGT
TTCAGGAAGGGGTGCAGATCCAGATATATGCAGTGCCAAAGCATTTTTGGACCTGATGCCATGG
AGGCTCCTAGTGAGTGCTATGATGCAGTTAACTTAATAGGTGATCAATTTGGTAACTGTGAGAT
TACAGGAATTCGAAATTTTAAAAAGTGTGAAAGTGCAAATTCAATATGTGGCAGGCTACAGTGT
ATAAATGTTGAAACCATCCCTGATTTGCCAGAGCATACGACTATAATTTCTACTCATTTACAGG
CAGAAAATCTCATGTGCTGGGGCACAGGCTATCATCTATCCATGAAACCCATGGGAATACCTGA
CCTAGGTATGATAAATGATGGCACCTCCTGTGGAGAAGGCCGGGTATGTTTTAAAAAAAATTGC
GTCAATAGCTCAGTCCTGCAGTTTGACTGTTTGCCTGAGAAATGCAATACCCGGGGTGTTTGCA
ACAACAGAAAAAACTGCCACTGCATGTATGGGTGGGCACCTCCATTCTGTGAGGAAGTGGGGTA
TGGAGGAAGCATTGACAGTGGGCCTCCAGGACTGCTCAGAGGGGCGATTCCCTCGTCAATTTGG
GTTGTGTCCATCATAATGTTTCGCCTTATTTTATTAATCCTTTCAGTGGTTTTTGTGTTTTTCC
GGCAAGTGATAGGAAACCACTTAAAACCCAAACAGGAAAAAATGCCACTATCCAAAGCAAAAAC
TGAACAGGAAGAATCTAAAACAAAAACTGTACAGGAAGAATCTAAAACAAAAACTGGACAGGAA
GAATCTGAAGCAAAAACTGGACAGGAAGAATCTAAAGCAAAAACTGGACAGGAAGAATCTAAAG
CAAACATTGAAAGTAAACGACCCAAAGCAAAGAGTGTCAAGAAACAAAAAAAGTAACCGGGCAA
TCCATACTCATTCAGTAACACAGGCTCATTTATTTAACCAGCTAATCATTTATCCAAAGGCTTT
CCATTCTTCTCCCAATATTTTTTTACTTTAATTTTTCCCACAAGTTTTGATCAGCAAATAAACA
GCATTCTTGTTTTGGAAACAAACCAGTGCATTCTACTTCTCGAGTGTTCACTTGCCCCTCAGTT
TGTGACCAAGTTGTGGGTATTCTGAGAATCATGCTCTAATGGCTTTTCCATACACTAAAGCTCT
GAAAGTAGTGAGTTTCCTAGAATTACCATGCTATTCAAGGTATAGTCTTGTTTCTCAGAATCCC
AGGGAACAAAGCAATTGTCTGCCTCTCCCTCTGCCTCCCTCAACTTGATCCATGTGAACATCCG
CACCTGCACCCATGCTGATCAATAAATGCCGACAACACA

hide sequence

Protein Sequences


Protein RefSeqs	NP_068566	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAF03780	(Get FASTA)	NCBI Sequence Viewer
	AAF03781	(Get FASTA)	NCBI Sequence Viewer
	AAH28372	(Get FASTA)	NCBI Sequence Viewer
	AAQ89096	(Get FASTA)	NCBI Sequence Viewer
	BAF85172	(Get FASTA)	NCBI Sequence Viewer
	CBH19191	(Get FASTA)	NCBI Sequence Viewer
	CBH30579	(Get FASTA)	NCBI Sequence Viewer
	EAW56717	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000358407
	ENSP00000358407.1
GenBank Protein	Q9UKF2	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_068566 ⟸ NM_021794
- Peptide Label:	preproprotein
- UniProtKB:	Q5T3X6 (UniProtKB/Swiss-Prot), A8K8W8 (UniProtKB/Swiss-Prot), Q9UKF1 (UniProtKB/Swiss-Prot), Q9UKF2 (UniProtKB/Swiss-Prot), Q8TBZ7 (UniProtKB/TrEMBL)
- Sequence:	show sequence MRSVQIFLSQCRLLLLLVPTMLLKSLGEDVIFHPEGEFDSYEVTIPEKLSFRGEVQGVVSPVSY LLQLKGKKHVLHLWPKRLLLPRHLRVFSFTEHGELLEDHPYIPKDCNYMGSVKESLDSKATIST CMGGLRGVFNIDAKHYQIEPLKASPSFEHVVYLLKKEQFGNQVCGLSDDEIEWQMAPYENKARL RDFPGSYKHPKYLELILLFDQSRYRFVNNNLSQVIHDAILLTGIMDTYFQDVRMRIHLKALEVW TDFNKIRVGYPELAEVLGRFVIYKKSVLNARLSSDWAHLYLQRKYNDALAWSFGKVCSLEYAGS VSTLLDTNILAPATWSAHELGHAVGMSHDEQYCQCRGRLNCIMGSGRTGFSNCSYISFFKHISS GATCLNNIPGLGYVLKRCGNKIVEDNEECDCGSTEECQKDRCCQSNCKLQPGANCSIGLCCHDC RFRPSGYVCRQEGNECDLAEYCDGNSSSCPNDVYKQDGTPCKYEGRCFRKGCRSRYMQCQSIFG PDAMEAPSECYDAVNLIGDQFGNCEITGIRNFKKCESANSICGRLQCINVETIPDLPEHTTIIS THLQAENLMCWGTGYHLSMKPMGIPDLGMINDGTSCGEGRVCFKKNCVNSSVLQFDCLPEKCNT RGVCNNRKNCHCMYGWAPPFCEEVGYGGSIDSGPPGLLRGAIPSSIWVVSIIMFRLILLILSVV FVFFRQVIGNHLKPKQEKMPLSKAKTEQEESKTKTVQEESKTKTGQEESEAKTGQEESKAKTGQ EESKANIESKRPKAKSVKKQKK hide sequence

Ensembl Acc Id:

ENSP00000358407 ⟸ ENST00000369400

Protein Domains

Disintegrin EGF-like Peptidase M12B

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q9UKF2-F1-model_v2	AlphaFold	Q9UKF2	1-790	view protein structure

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:208	AgrOrtholog
COSMIC	ADAM30	COSMIC
Ensembl Genes	ENSG00000134249	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000369400	ENTREZGENE
	ENST00000369400.2	UniProtKB/Swiss-Prot
Gene3D-CATH	3.40.390.10	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	4.10.70.10	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx	ENSG00000134249	GTEx
HGNC ID	HGNC:208	ENTREZGENE
Human Proteome Map	ADAM30	Human Proteome Map
InterPro	ADAM_Cys-rich	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Disintegrin_CS	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Disintegrin_dom	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Disintegrin_dom_sf	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	EGF-like_dom	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	MetalloPept_cat_dom_sf	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Peptidase_M12B	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Peptidase_M12B_N	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Reprolysin_adamalysin	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	hsa:11085	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene	11085	ENTREZGENE
OMIM	604779	OMIM
PANTHER	ADAM A DISINTEGRIN AND METALLOPROTEASE DOMAIN	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	DISINTEGRIN AND METALLOPROTEINASE DOMAIN-CONTAINING PROTEIN 30	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam	ADAM_CR	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Disintegrin	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Pep_M12B_propep	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Reprolysin	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA24525	PharmGKB
PRINTS	DISINTEGRIN	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE	ADAM_MEPRO	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	DISINTEGRIN_1	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	DISINTEGRIN_2	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	EGF_2	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	EGF_3	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART	ACR	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	DISIN	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP	Metalloproteases ('zincins'), catalytic domain	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	SSF57552	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt	A8K8W8	ENTREZGENE
	ADA30_HUMAN	UniProtKB/Swiss-Prot
	Q5T3X6	ENTREZGENE
	Q8TBZ7	ENTREZGENE, UniProtKB/TrEMBL
	Q9UKF1	ENTREZGENE
	Q9UKF2	ENTREZGENE
UniProt Secondary	A8K8W8	UniProtKB/Swiss-Prot
	Q5T3X6	UniProtKB/Swiss-Prot
	Q9UKF1	UniProtKB/Swiss-Prot

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

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

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

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

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Imported Disease Annotations - ClinVar