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Gene: ZMYND12 (zinc finger MYND-type containing 12) Homo sapiens

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Symbol:

ZMYND12

Name:

zinc finger MYND-type containing 12

RGD ID:

1316209

HGNC Page

HGNC:21192

Description:

Predicted to enable zinc ion binding activity. Involved in sperm axoneme assembly. Located in sperm flagellum.

Type:

protein-coding

RefSeq Status:

VALIDATED

Previously known as:

DKFZp434N2435; zinc finger MYND domain-containing protein 12; zinc finger, MYND domain containing 12; zinc finger, MYND-type containing 12

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	42,430,329 - 42,456,022 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	1	42,430,329 - 42,456,253 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	1	42,896,000 - 42,921,693 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	1	42,668,681 - 42,694,514 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	1	42,565,187 - 42,591,020	NCBI
Celera	1	41,177,939 - 41,203,877 (-)	NCBI		Celera
Cytogenetic Map	1	p34.2	NCBI
HuRef	1	41,016,081 - 41,042,045 (-)	NCBI		HuRef
CHM1_1	1	43,012,843 - 43,038,777 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	1	42,300,691 - 42,326,384 (-)	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

Charcot-Marie-Tooth disease dominant intermediate C (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

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

1,2-dimethylhydrazine (ISO)

17beta-estradiol (ISO)

17beta-estradiol 3-benzoate (ISO)

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

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

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

6-propyl-2-thiouracil (ISO)

acetamide (ISO)

aflatoxin B1 (EXP,ISO)

benzo[a]pyrene (EXP,ISO)

bisphenol A (EXP,ISO)

cadmium dichloride (EXP)

calyculin a (ISO)

carbon nanotube (ISO)

CGP 52608 (EXP)

chloroprene (ISO)

Cuprizon (ISO)

dexamethasone (EXP)

entinostat (EXP)

epoxiconazole (ISO)

furan (ISO)

genistein (ISO)

glycidol (ISO)

indole-3-methanol (ISO)

indometacin (EXP)

methamphetamine (ISO)

methoxychlor (ISO)

N-nitrosodiethylamine (ISO)

N-Nitrosopyrrolidine (EXP)

nickel atom (EXP)

O-methyleugenol (EXP)

paracetamol (ISO)

perfluorooctane-1-sulfonic acid (ISO)

perfluorooctanoic acid (ISO)

pirinixic acid (EXP,ISO)

propanal (EXP)

silicon dioxide (EXP)

sulforaphane (EXP)

tamoxifen (ISO)

testosterone (ISO)

trichloroethene (ISO)

Triptolide (ISO)

triptonide (ISO)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

flagellated sperm motility (IMP)

sperm axoneme assembly (IMP)

Cellular Component

motile cilium (IEA)

sperm flagellum (IDA)

Molecular Function

protein binding (IPI)

zinc ion binding (IEA)

References

References - curated

#	Reference Title	Reference Citation
1.	ClinVar Automated Import and Annotation Pipeline	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions

Additional References at PubMed

PMID:11230166	PMID:11256614	PMID:12477932	PMID:14702039	PMID:15489334	PMID:16710414	PMID:32296183	PMID:32814053	PMID:33961781	PMID:37934199

Genomics

Comparative Map Data

ZMYND12
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	1	42,430,329 - 42,456,022 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	1	42,430,329 - 42,456,253 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	1	42,896,000 - 42,921,693 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	1	42,668,681 - 42,694,514 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	1	42,565,187 - 42,591,020	NCBI
Celera	1	41,177,939 - 41,203,877 (-)	NCBI		Celera
Cytogenetic Map	1	p34.2	NCBI
HuRef	1	41,016,081 - 41,042,045 (-)	NCBI		HuRef
CHM1_1	1	43,012,843 - 43,038,777 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	1	42,300,691 - 42,326,384 (-)	NCBI		T2T-CHM13v2.0

Zmynd12
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	4	119,279,881 - 119,311,096 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	4	119,280,011 - 119,324,641 (+)	Ensembl		GRCm39 Ensembl
GRCm38	4	119,422,611 - 119,453,899 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	4	119,422,814 - 119,467,444 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	4	119,095,289 - 119,126,504 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	4	118,920,805 - 118,951,831 (+)	NCBI		MGSCv36	mm8
Celera	4	118,153,890 - 118,185,131 (+)	NCBI		Celera
Cytogenetic Map	4	D2.1	NCBI
cM Map	4	55.38	NCBI

Zmynd12
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	5	138,312,257 - 138,345,269 (+)	NCBI		GRCr8
mRatBN7.2	5	133,026,917 - 133,059,985 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	5	133,027,009 - 133,059,995 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	5	135,755,501 - 135,788,402 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	5	137,511,957 - 137,544,857 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	5	137,532,567 - 137,565,466 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	5	138,470,165 - 138,505,928 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	5	138,470,069 - 138,505,556 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	5	142,280,300 - 142,312,937 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	5	140,012,776 - 140,046,983 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	5	140,017,980 - 140,052,017 (+)	NCBI
Celera	5	131,550,965 - 131,583,612 (+)	NCBI		Celera
Cytogenetic Map	5	q36	NCBI

Zmynd12
(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_004955537	2,035,644 - 2,080,589 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955537	2,021,347 - 2,087,527 (-)	NCBI	ChiLan1.0	ChiLan1.0

ZMYND12
(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	184,355,417 - 184,387,728 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	1	183,497,096 - 183,525,030 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	1	41,725,736 - 41,756,324 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	1	43,110,204 - 43,136,487 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	1	43,110,890 - 43,136,487 (-)	Ensembl	panpan1.1		panPan2

ZMYND12
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	15	817,339 - 842,089 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	15	817,384 - 842,087 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	15	1,071,724 - 1,096,911 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	15	898,497 - 923,697 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	15	898,980 - 923,695 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	15	807,731 - 832,920 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	15	869,260 - 894,441 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	15	884,371 - 909,562 (+)	NCBI		UU_Cfam_GSD_1.0

Zmynd12
(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	58,014,931 - 58,042,546 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936474	23,838,327 - 23,866,964 (-)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936474	23,839,713 - 23,867,222 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

ZMYND12
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	6	168,877,249 - 168,902,741 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	6	168,877,247 - 168,902,705 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	6	156,366,596 - 156,392,453 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

ZMYND12
(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	90,473,006 - 90,498,958 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	20	90,473,442 - 90,498,568 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666033	26,408,724 - 26,435,856 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Zmynd12
(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_004624892	1,735,228 - 1,790,767 (-)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624892	1,733,891 - 1,790,910 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in ZMYND12
24 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 1p34.2-34.1(chr1:40693289-44514104)x1	copy number loss	See cases [RCV000050706]	Chr1:40693289..44514104 [GRCh38] Chr1:41158961..44979776 [GRCh37] Chr1:40931548..44752363 [NCBI36] Chr1:1p34.2-34.1	pathogenic
GRCh38/hg38 1p34.3-33(chr1:39479787-47688131)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051817]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051817]\|See cases [RCV000051817]	Chr1:39479787..47688131 [GRCh38] Chr1:39945459..48153803 [GRCh37] Chr1:39718046..47926390 [NCBI36] Chr1:1p34.3-33	pathogenic
GRCh38/hg38 1p34.3-34.1(chr1:38222737-45636176)x3	copy number gain	See cases [RCV000051803]	Chr1:38222737..45636176 [GRCh38] Chr1:38688409..46101848 [GRCh37] Chr1:38460996..45874435 [NCBI36] Chr1:1p34.3-34.1	pathogenic
GRCh38/hg38 1p34.2-34.1(chr1:40462415-44668040)x1	copy number loss	See cases [RCV000053837]	Chr1:40462415..44668040 [GRCh38] Chr1:40928087..45133712 [GRCh37] Chr1:40700674..44906299 [NCBI36] Chr1:1p34.2-34.1	pathogenic
NM_024664.3(PPCS):c.385G>T (p.Ala129Ser)	single nucleotide variant	Malignant melanoma [RCV000064774]	Chr1:42456950 [GRCh38] Chr1:42922621 [GRCh37] Chr1:42695208 [NCBI36] Chr1:1p34.2	not provided
NM_001077447.2(PPCS):c.127C>T (p.Pro43Ser)	single nucleotide variant	Malignant melanoma [RCV000064775]	Chr1:42459636 [GRCh38] Chr1:42925307 [GRCh37] Chr1:42697894 [NCBI36] Chr1:1p34.2	not provided
NM_001077447.2(PPCS):c.128C>A (p.Pro43His)	single nucleotide variant	Malignant melanoma [RCV000064776]	Chr1:42459637 [GRCh38] Chr1:42925308 [GRCh37] Chr1:42697895 [NCBI36] Chr1:1p34.2	not provided
GRCh37/hg19 1p34.2(chr1:41343608-43121507)x1	copy number loss	See cases [RCV000234876]	Chr1:41343608..43121507 [GRCh37] Chr1:1p34.2	likely pathogenic
GRCh38/hg38 1p34.2(chr1:40834404-43123071)x1	copy number loss	See cases [RCV000142267]	Chr1:40834404..43123071 [GRCh38] Chr1:41300076..43588742 [GRCh37] Chr1:41072663..43361329 [NCBI36] Chr1:1p34.2	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 1p34.2-34.1(chr1:42914303-45001279)x1	copy number loss	See cases [RCV000446029]	Chr1:42914303..45001279 [GRCh37] Chr1:1p34.2-34.1	pathogenic
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_032257.5(ZMYND12):c.963G>T (p.Met321Ile)	single nucleotide variant	not specified [RCV004299054]	Chr1:42433155 [GRCh38] Chr1:42898826 [GRCh37] Chr1:1p34.2	uncertain significance
NM_032257.5(ZMYND12):c.430G>T (p.Gly144Cys)	single nucleotide variant	not specified [RCV004329639]	Chr1:42440020 [GRCh38] Chr1:42905691 [GRCh37] Chr1:1p34.2	uncertain significance
NM_032257.5(ZMYND12):c.380T>C (p.Val127Ala)	single nucleotide variant	not specified [RCV004332456]	Chr1:42448511 [GRCh38] Chr1:42914182 [GRCh37] Chr1:1p34.2	uncertain significance
NC_000001.10:g.(?_33241563)_(46663513_?)dup	duplication	Charcot-Marie-Tooth disease dominant intermediate C [RCV000708276]	Chr1:33241563..46663513 [GRCh37] Chr1:1p35.1-34.1	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
NM_032257.5(ZMYND12):c.86C>T (p.Ala29Val)	single nucleotide variant	not specified [RCV004304831]	Chr1:42455912 [GRCh38] Chr1:42921583 [GRCh37] Chr1:1p34.2	uncertain significance
GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	copy number gain	Global developmental delay [RCV000787285]	Chr1:103343285..103455144 [GRCh37] Chr1:1p36.22-21.1	uncertain significance
NM_032257.5(ZMYND12):c.45C>T (p.Leu15=)	single nucleotide variant	not provided [RCV001598310]	Chr1:42455953 [GRCh38] Chr1:42921624 [GRCh37] Chr1:1p34.2	benign
NC_000001.10:g.(?_33241563)_(46663513_?)dup	duplication	Charcot-Marie-Tooth disease, dominant intermediate C [RCV001308684]	Chr1:33241563..46663513 [GRCh37] Chr1:1p35.1-34.1	uncertain significance
GRCh37/hg19 1p35.1-33(chr1:33285582-47891811)	copy number gain	not specified [RCV002052781]	Chr1:33285582..47891811 [GRCh37] Chr1:1p35.1-33	pathogenic
NM_032257.5(ZMYND12):c.347G>A (p.Arg116His)	single nucleotide variant	not specified [RCV004085526]	Chr1:42448544 [GRCh38] Chr1:42914215 [GRCh37] Chr1:1p34.2	uncertain significance
NM_032257.5(ZMYND12):c.500G>A (p.Ser167Asn)	single nucleotide variant	not specified [RCV004117530]	Chr1:42439950 [GRCh38] Chr1:42905621 [GRCh37] Chr1:1p34.2	uncertain significance
NM_032257.5(ZMYND12):c.135C>G (p.Asp45Glu)	single nucleotide variant	not specified [RCV004172802]	Chr1:42450035 [GRCh38] Chr1:42915706 [GRCh37] Chr1:1p34.2	uncertain significance
NM_032257.5(ZMYND12):c.940G>T (p.Val314Phe)	single nucleotide variant	not specified [RCV004120835]	Chr1:42433178 [GRCh38] Chr1:42898849 [GRCh37] Chr1:1p34.2	uncertain significance
NM_032257.5(ZMYND12):c.527G>A (p.Arg176Gln)	single nucleotide variant	not specified [RCV004239529]	Chr1:42439923 [GRCh38] Chr1:42905594 [GRCh37] Chr1:1p34.2	uncertain significance
NM_032257.5(ZMYND12):c.953A>C (p.Tyr318Ser)	single nucleotide variant	not specified [RCV004239590]	Chr1:42433165 [GRCh38] Chr1:42898836 [GRCh37] Chr1:1p34.2	uncertain significance
NM_032257.5(ZMYND12):c.346C>T (p.Arg116Cys)	single nucleotide variant	not specified [RCV004159504]	Chr1:42448545 [GRCh38] Chr1:42914216 [GRCh37] Chr1:1p34.2	uncertain significance
NM_032257.5(ZMYND12):c.496T>G (p.Cys166Gly)	single nucleotide variant	not specified [RCV004085090]	Chr1:42439954 [GRCh38] Chr1:42905625 [GRCh37] Chr1:1p34.2	uncertain significance
NM_032257.5(ZMYND12):c.917C>A (p.Thr306Asn)	single nucleotide variant	not specified [RCV004209099]	Chr1:42433201 [GRCh38] Chr1:42898872 [GRCh37] Chr1:1p34.2	uncertain significance
NM_032257.5(ZMYND12):c.574C>T (p.Arg192Cys)	single nucleotide variant	not specified [RCV004224779]	Chr1:42439876 [GRCh38] Chr1:42905547 [GRCh37] Chr1:1p34.2	uncertain significance
NM_032257.5(ZMYND12):c.218G>A (p.Arg73Gln)	single nucleotide variant	not specified [RCV004256261]	Chr1:42449952 [GRCh38] Chr1:42915623 [GRCh37] Chr1:1p34.2	uncertain significance
NM_032257.5(ZMYND12):c.613G>A (p.Ala205Thr)	single nucleotide variant	not specified [RCV004348714]	Chr1:42436525 [GRCh38] Chr1:42902196 [GRCh37] Chr1:1p34.2	uncertain significance
NM_032257.5(ZMYND12):c.185C>A (p.Thr62Asn)	single nucleotide variant	not specified [RCV004360093]	Chr1:42449985 [GRCh38] Chr1:42915656 [GRCh37] Chr1:1p34.2	uncertain significance
Single allele	inversion	Bilateral polymicrogyria [RCV003459046]	Chr1:33246132..61045156 [GRCh38] Chr1:1p35.1-31.3	likely pathogenic
GRCh38/hg38 1p34.2(chr1:42278946-43598390)	copy number loss	Epilepsy syndrome [RCV003986075]	Chr1:42278946..43598390 [GRCh38] Chr1:1p34.2	pathogenic
NM_032257.5(ZMYND12):c.153G>C (p.Glu51Asp)	single nucleotide variant	not specified [RCV004489134]	Chr1:42450017 [GRCh38] Chr1:42915688 [GRCh37] Chr1:1p34.2	uncertain significance
NM_032257.5(ZMYND12):c.195C>T (p.Pro65=)	single nucleotide variant	not specified [RCV004489135]	Chr1:42449975 [GRCh38] Chr1:42915646 [GRCh37] Chr1:1p34.2	likely benign
NM_032257.5(ZMYND12):c.249G>A (p.Arg83=)	single nucleotide variant	not specified [RCV004489136]	Chr1:42449921 [GRCh38] Chr1:42915592 [GRCh37] Chr1:1p34.2	likely benign
NM_032257.5(ZMYND12):c.26T>C (p.Val9Ala)	single nucleotide variant	not specified [RCV004489137]	Chr1:42455972 [GRCh38] Chr1:42921643 [GRCh37] Chr1:1p34.2	uncertain significance
NM_032257.5(ZMYND12):c.460T>A (p.Phe154Ile)	single nucleotide variant	not specified [RCV004489139]	Chr1:42439990 [GRCh38] Chr1:42905661 [GRCh37] Chr1:1p34.2	uncertain significance
NM_032257.5(ZMYND12):c.919A>G (p.Ile307Val)	single nucleotide variant	not specified [RCV004885809]	Chr1:42433199 [GRCh38] Chr1:42898870 [GRCh37] Chr1:1p34.2	likely benign
NM_032257.5(ZMYND12):c.466G>A (p.Ala156Thr)	single nucleotide variant	not specified [RCV004885815]	Chr1:42439984 [GRCh38] Chr1:42905655 [GRCh37] Chr1:1p34.2	uncertain significance
NM_032257.5(ZMYND12):c.234G>A (p.Gln78=)	single nucleotide variant	not specified [RCV004885814]	Chr1:42449936 [GRCh38] Chr1:42915607 [GRCh37] Chr1:1p34.2	likely benign
NM_032257.5(ZMYND12):c.608G>C (p.Ser203Thr)	single nucleotide variant	not specified [RCV004885817]	Chr1:42436530 [GRCh38] Chr1:42902201 [GRCh37] Chr1:1p34.2	uncertain significance
NM_032257.5(ZMYND12):c.187T>C (p.Ser63Pro)	single nucleotide variant	not specified [RCV004885810]	Chr1:42449983 [GRCh38] Chr1:42915654 [GRCh37] Chr1:1p34.2	uncertain significance
NM_032257.5(ZMYND12):c.566A>G (p.Glu189Gly)	single nucleotide variant	not specified [RCV004885816]	Chr1:42439884 [GRCh38] Chr1:42905555 [GRCh37] Chr1:1p34.2	uncertain significance
NM_032257.5(ZMYND12):c.549A>G (p.Ile183Met)	single nucleotide variant	not specified [RCV004885811]	Chr1:42439901 [GRCh38] Chr1:42905572 [GRCh37] Chr1:1p34.2	likely benign
NM_032257.5(ZMYND12):c.664A>G (p.Asn222Asp)	single nucleotide variant	not specified [RCV004885812]	Chr1:42436474 [GRCh38] Chr1:42902145 [GRCh37] Chr1:1p34.2	uncertain significance
NM_032257.5(ZMYND12):c.257A>G (p.Tyr86Cys)	single nucleotide variant	not specified [RCV004885813]	Chr1:42448634 [GRCh38] Chr1:42914305 [GRCh37] Chr1:1p34.2	uncertain significance

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	698
Count of miRNA genes:	423
Interacting mature miRNAs:	451
Transcripts:	ENST00000372565, ENST00000433602, ENST00000461083, ENST00000475426
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.

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
597172541	GWAS1268615_H	protein measurement QTL GWAS1268615 (human)		2e-40	protein measurement		1	42437689	42437690	Human

Markers in Region

RH99085

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	1	42,896,267 - 42,896,389	UniSTS	GRCh37
Build 36	1	42,668,854 - 42,668,976	RGD	NCBI36
Celera	1	41,178,206 - 41,178,328	RGD
Cytogenetic Map	1	p34.2	UniSTS
HuRef	1	41,016,348 - 41,016,470	UniSTS
GeneMap99-GB4 RH Map	1	133.84	UniSTS

SHGC-155430

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	1	42,913,532 - 42,913,870	UniSTS	GRCh37
Build 36	1	42,686,119 - 42,686,457	RGD	NCBI36
Celera	1	41,195,471 - 41,195,809	RGD
Cytogenetic Map	1	p34.2	UniSTS
HuRef	1	41,033,639 - 41,033,977	UniSTS
TNG Radiation Hybrid Map	1	20802.0	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	entire extraembryonic component	exocrine system	hemolymphoid system	hepatobiliary system	integumental system	mesenchyme	mesoderm	musculoskeletal system	nervous system	renal system	reproductive system	respiratory system	sensory system	visual system
1204	2424	2785	2241	4945	1721	2328	5	618	1888	460	2263	7215	6396	44	3712	843	1730	1599	174	1

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_001146192	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_032257	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AK057384	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK301839	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL136858	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL445669	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL513331	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC024186	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BQ441452	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471059	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068277	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000372565 ⟹ ENSP00000361646

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	42,430,329 - 42,456,022 (-)	Ensembl

Ensembl Acc Id:

ENST00000461083 ⟹ ENSP00000482602

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	42,436,421 - 42,456,011 (-)	Ensembl

Ensembl Acc Id:

ENST00000475426

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	42,432,860 - 42,435,522 (-)	Ensembl

Ensembl Acc Id:

ENST00000611861 ⟹ ENSP00000478789

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	42,430,415 - 42,456,253 (-)	Ensembl

RefSeq Acc Id:

NM_001146192 ⟹ NP_001139664

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	42,430,329 - 42,456,022 (-)	NCBI
GRCh37	1	42,896,000 - 42,921,938 (-)	RGD
Celera	1	41,177,939 - 41,203,877 (-)	RGD
HuRef	1	41,016,081 - 41,042,045 (-)	ENTREZGENE
CHM1_1	1	43,012,843 - 43,038,777 (-)	NCBI
T2T-CHM13v2.0	1	42,300,691 - 42,326,384 (-)	NCBI

Sequence:

show sequence

AGAGACCAGCACTGCTGGCTGCACCATGAATGTGATCTACCCACTGGCAGTCCCCAAGGGGCGC
AGACTCTGCTGTGAGGTGTGCGAAGCCCCAGCCGAGCGGGTGTGCGCGGCCTGCACAGTCACTT
ATTACTGTGGGGTGGTACATCAGAAGGCTGACTGGGACAGCATCCATGAGAAAATATGTCAGCT
CTTGATTCCACTGCGCACTTCCATGCCCTTCTACAATTCAGAGGAAGAACGGCAGCATGGCCTG
CAGCAGCTGCAGCAGCGGCAGGTCTGGGCCGAATCGTTCAGGCTGAAGAATATCTATTCCAAGC
CCAGTGGACAGTCCTCAAATCAACTGACTGTAGTAATGCCACCCACTCTTTACTGCATCGGAAT
CTGGGACTTCTCTATATAGCTAAGAAAAACTATGAAGAGGCCCGTTATCATCTGGCCAATGATA
TTTATTTTGCCAGTTGTGCATTTGGAACAGAGGACATTAGGACTTCAGGAGGCTACTTCCACCT
GGCTAATATATTCTATGACCTTAAAAAGTTGGACCTGGCAGACACATTGTACACCAAGGTCTCT
GAGATCTGGCATGCATATTTGAACAATCACTATCAAGTCCTCTCACAGGCTCACATCCAACAAA
TGGATTTACTGGGCAAACTATTTGAGAATGACACTGGCTTGGATGAAGCCCAAGAAGCAGAAGC
CATTCGCATCCTGACTTCAATCTTGAACATTCGAGAATCTACATCTGACAAAGCCCCCCAAAAA
ACCATCTTTGTTCTGAAGATCCTGGTCATGTTTTACTACCTGATGATGAATTCTTCAAAGGCAC
AGGAATATGGCATGAGGGCCCTCAGTCTAGCCAAAGAACAACAGCTTGATGTCCATGAGCAAAG
CACCATTCAAGAGTTATTAAGTCTCATTTCAACTGAAGACCATCCCATTACTTAGTGACCCATG
AGCTCTGCATCAAGGGTTATTCCAGGGGCTACTGAAGATCTAATATATTCCAGCCTTGCACAAC
TGCTTTGAGGTACTGTAGACTGCTGAAGTTTCCACCCTCTTCCCCTGGGATTGCACACATAGCT
GTTATTTTTTTCTTACACAGCATATTAAGGGAATATAAAGCTTTAGGCATAGAAATCACTAAAA
ACTGTGTTTGTCATGACCTTTGTACTTGATTTATCATGACTTTGTATGACTGAGTAATATGTAG
TCAGATCACTAATATGGTATTTGTAATTAAACTACAAATAGTTTGTCATTTCCCAGAAGTCTTC
CAACGATGCATGTTTCATACACTTTTGCTAAAGGAGGGGTAAAGGAGGGGGTAGGGAATAAAGC
TATATTGGAACAAA

hide sequence

RefSeq Acc Id:

NM_032257 ⟹ NP_115633

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	42,430,329 - 42,456,022 (-)	NCBI
GRCh37	1	42,896,000 - 42,921,938 (-)	RGD
Build 36	1	42,668,681 - 42,694,514 (-)	NCBI Archive
Celera	1	41,177,939 - 41,203,877 (-)	RGD
HuRef	1	41,016,081 - 41,042,045 (-)	ENTREZGENE
CHM1_1	1	43,012,843 - 43,038,777 (-)	NCBI
T2T-CHM13v2.0	1	42,300,691 - 42,326,384 (-)	NCBI

Sequence:

show sequence

AGAGACCAGCACTGCTGGCTGCACCATGAATGTGATCTACCCACTGGCAGTCCCCAAGGGGCGC
AGACTCTGCTGTGAGGTGTGCGAAGCCCCAGCCGAGCGGGTGTGCGCGGCCTGCACAGTCACTT
ATTACTGTGGGGTGGTACATCAGAAGGCTGACTGGGACAGCATCCATGAGAAAATATGTCAGCT
CTTGATTCCACTGCGCACTTCCATGCCCTTCTACAATTCAGAGGAAGAACGGCAGCATGGCCTG
CAGCAGCTGCAGCAGCGGCAGAAGTATTTGATTGAATTCTGCTACACCATAGCCCAGAAATACC
TCTTTGAAGGGAAACACGAAGATGCTGTACCAGCAGCTTTGCAGTCCCTTCGCTTCCGTGTGAA
GCTGTATGGCCTGAGCTCCGTAGAGCTTGTGCCTGCTTACCTGCTGTTGGCCGAGGCCAGCCTT
GGTCTGGGCCGAATCGTTCAGGCTGAAGAATATCTATTCCAAGCCCAGTGGACAGTCCTCAAAT
CAACTGACTGTAGTAATGCCACCCACTCTTTACTGCATCGGAATCTGGGACTTCTCTATATAGC
TAAGAAAAACTATGAAGAGGCCCGTTATCATCTGGCCAATGATATTTATTTTGCCAGTTGTGCA
TTTGGAACAGAGGACATTAGGACTTCAGGAGGCTACTTCCACCTGGCTAATATATTCTATGACC
TTAAAAAGTTGGACCTGGCAGACACATTGTACACCAAGGTCTCTGAGATCTGGCATGCATATTT
GAACAATCACTATCAAGTCCTCTCACAGGCTCACATCCAACAAATGGATTTACTGGGCAAACTA
TTTGAGAATGACACTGGCTTGGATGAAGCCCAAGAAGCAGAAGCCATTCGCATCCTGACTTCAA
TCTTGAACATTCGAGAATCTACATCTGACAAAGCCCCCCAAAAAACCATCTTTGTTCTGAAGAT
CCTGGTCATGTTTTACTACCTGATGATGAATTCTTCAAAGGCACAGGAATATGGCATGAGGGCC
CTCAGTCTAGCCAAAGAACAACAGCTTGATGTCCATGAGCAAAGCACCATTCAAGAGTTATTAA
GTCTCATTTCAACTGAAGACCATCCCATTACTTAGTGACCCATGAGCTCTGCATCAAGGGTTAT
TCCAGGGGCTACTGAAGATCTAATATATTCCAGCCTTGCACAACTGCTTTGAGGTACTGTAGAC
TGCTGAAGTTTCCACCCTCTTCCCCTGGGATTGCACACATAGCTGTTATTTTTTTCTTACACAG
CATATTAAGGGAATATAAAGCTTTAGGCATAGAAATCACTAAAAACTGTGTTTGTCATGACCTT
TGTACTTGATTTATCATGACTTTGTATGACTGAGTAATATGTAGTCAGATCACTAATATGGTAT
TTGTAATTAAACTACAAATAGTTTGTCATTTCCCAGAAGTCTTCCAACGATGCATGTTTCATAC
ACTTTTGCTAAAGGAGGGGTAAAGGAGGGGGTAGGGAATAAAGCTATATTGGAACAAA

hide sequence

Protein Sequences


Protein RefSeqs	NP_001139664	(Get FASTA)	NCBI Sequence Viewer
	NP_115633	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAH24186	(Get FASTA)	NCBI Sequence Viewer
	BAB71461	(Get FASTA)	NCBI Sequence Viewer
	BAG63282	(Get FASTA)	NCBI Sequence Viewer
	CAB66792	(Get FASTA)	NCBI Sequence Viewer
	EAX07159	(Get FASTA)	NCBI Sequence Viewer
	EAX07160	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000361646
	ENSP00000361646.3
	ENSP00000478789.1
	ENSP00000482602.1
GenBank Protein	Q9H0C1	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_115633 ⟸ NM_032257
- Peptide Label:	isoform 1
- UniProtKB:	Q8TC87 (UniProtKB/Swiss-Prot), Q5VUS6 (UniProtKB/Swiss-Prot), Q96M51 (UniProtKB/Swiss-Prot), Q9H0C1 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MNVIYPLAVPKGRRLCCEVCEAPAERVCAACTVTYYCGVVHQKADWDSIHEKICQLLIPLRTSM PFYNSEEERQHGLQQLQQRQKYLIEFCYTIAQKYLFEGKHEDAVPAALQSLRFRVKLYGLSSVE LVPAYLLLAEASLGLGRIVQAEEYLFQAQWTVLKSTDCSNATHSLLHRNLGLLYIAKKNYEEAR YHLANDIYFASCAFGTEDIRTSGGYFHLANIFYDLKKLDLADTLYTKVSEIWHAYLNNHYQVLS QAHIQQMDLLGKLFENDTGLDEAQEAEAIRILTSILNIRESTSDKAPQKTIFVLKILVMFYYLM MNSSKAQEYGMRALSLAKEQQLDVHEQSTIQELLSLISTEDHPIT hide sequence

RefSeq Acc Id:	NP_001139664 ⟸ NM_001146192
- Peptide Label:	isoform 2
- UniProtKB:	B4DX70 (UniProtKB/TrEMBL)
- Sequence:	show sequence MSALDSTAHFHALLQFRGRTAAWPAAAAAAAGLGRIVQAEEYLFQAQWTVLKSTDCSNATHSLL HRNLGLLYIAKKNYEEARYHLANDIYFASCAFGTEDIRTSGGYFHLANIFYDLKKLDLADTLYT KVSEIWHAYLNNHYQVLSQAHIQQMDLLGKLFENDTGLDEAQEAEAIRILTSILNIRESTSDKA PQKTIFVLKILVMFYYLMMNSSKAQEYGMRALSLAKEQQLDVHEQSTIQELLSLISTEDHPIT hide sequence

Ensembl Acc Id:

ENSP00000361646 ⟸ ENST00000372565

Ensembl Acc Id:

ENSP00000478789 ⟸ ENST00000611861

Ensembl Acc Id:

ENSP00000482602 ⟸ ENST00000461083

Protein Domains

MYND-type

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q9H0C1-F1-model_v2	AlphaFold	Q9H0C1	1-365	view protein structure

Promoters

RGD ID:

6855172

Promoter ID:

EPDNEW_H751

Type:

initiation region

Name:

ZMYND12_1

Description:

zinc finger MYND-type containing 12

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H752

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	42,456,256 - 42,456,316	EPDNEW

RGD ID:

6855174

Promoter ID:

EPDNEW_H752

Type:

initiation region

Name:

ZMYND12_2

Description:

zinc finger MYND-type containing 12

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H751

Experiment Methods:

Single-end sequencing.; Paired-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	42,456,448 - 42,456,508	EPDNEW

RGD ID:

6787267

Promoter ID:

HG_KWN:2283

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell, CD4+TCell_12Hour

Transcripts:

NM_001146192, OTTHUMT00000019170, OTTHUMT00000019172

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	1	42,694,041 - 42,694,541 (-)	MPROMDB

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:21192	AgrOrtholog
COSMIC	ZMYND12	COSMIC
Ensembl Genes	ENSG00000066185	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript	ENST00000372565	ENTREZGENE
	ENST00000372565.8	UniProtKB/Swiss-Prot
	ENST00000461083.1	UniProtKB/TrEMBL
	ENST00000611861.4	UniProtKB/TrEMBL
Gene3D-CATH	1.25.40.10	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	6.10.140.2220	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx	ENSG00000066185	GTEx
HGNC ID	HGNC:21192	ENTREZGENE
Human Proteome Map	ZMYND12	Human Proteome Map
InterPro	TPR-like_helical_dom_sf	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Zinc_finger_MYND_domain	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Znf_MYND	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	hsa:84217	UniProtKB/Swiss-Prot
NCBI Gene	84217	ENTREZGENE
PANTHER	ZINC FINGER MYND DOMAIN-CONTAINING PROTEIN 12	UniProtKB/Swiss-Prot
	ZINC FINGER MYND DOMAIN-CONTAINING PROTEIN 12	UniProtKB/Swiss-Prot
	ZINC FINGER MYND DOMAIN-CONTAINING PROTEIN 12	UniProtKB/TrEMBL
	ZINC FINGER MYND DOMAIN-CONTAINING PROTEIN 12	UniProtKB/TrEMBL
Pfam	zf-MYND	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA134993145	PharmGKB
PROSITE	ZF_MYND_1	UniProtKB/Swiss-Prot
	ZF_MYND_2	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP	HIT/MYND zinc finger-like	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	SSF48452	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt	A0A087WUN3_HUMAN	UniProtKB/TrEMBL
	A0A087WZE7_HUMAN	UniProtKB/TrEMBL
	B4DX70	ENTREZGENE, UniProtKB/TrEMBL
	Q5VUS6	ENTREZGENE
	Q8TC87	ENTREZGENE
	Q96M51	ENTREZGENE
	Q9H0C1	ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary	Q5VUS6	UniProtKB/Swiss-Prot
	Q8TC87	UniProtKB/Swiss-Prot
	Q96M51	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2016-02-18	ZMYND12	zinc finger MYND-type containing 12		zinc finger, MYND-type containing 12	Symbol and/or name change	5135510	APPROVED

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

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

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

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

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Imported Disease Annotations - ClinVar