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Gene: ZNF221 (zinc finger protein 221) Homo sapiens

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Symbol:

ZNF221

Name:

zinc finger protein 221

RGD ID:

1347890

HGNC Page

HGNC:13014

Description:

Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of DNA-templated transcription. Predicted to be located in nucleoplasm.

Type:

protein-coding

RefSeq Status:

VALIDATED

Previously known as:

MGC138186; MGC141986

RGD Orthologs

Bonobo

Green Monkey

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	19	43,951,228 - 43,981,613 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	19	43,951,204 - 43,972,739 (+)	Ensembl		GRCh38.p14 Ensembl	hg38	GRCh38
GRCh37	19	44,455,380 - 44,471,861 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	19	49,147,237 - 49,163,592 (+)	NCBI	Build 36	Build 36	hg18	NCBI36
Build 34	19	49,147,236 - 49,163,701	NCBI
Celera	19	41,258,930 - 41,275,263 (+)	NCBI		Celera
Cytogenetic Map	19	q13.31	NCBI
HuRef	19	40,887,651 - 40,903,984 (+)	NCBI		HuRef
CHM1_1	19	44,457,327 - 44,473,678 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	19	46,774,167 - 46,793,142 (+)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

Hereditary Adrenocortical Carcinoma (IAGP)

ovarian serous cystadenocarcinoma (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

acrylamide (EXP)

butanal (EXP)

CGP 52608 (EXP)

leflunomide (EXP)

silicon dioxide (EXP)

urethane (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

negative regulation of transcription by RNA polymerase II (IEA)

regulation of DNA-templated transcription (IBA,IEA)

regulation of transcription by RNA polymerase II (IEA)

Cellular Component

nucleoplasm (IEA)

nucleus (IBA,IEA)

Molecular Function

DNA-binding transcription factor activity, RNA polymerase II-specific (IBA)

DNA-binding transcription repressor activity, RNA polymerase II-specific (IEA)

RNA polymerase II cis-regulatory region sequence-specific DNA binding (IBA)

sequence-specific double-stranded DNA binding (IEA)

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:10449920	PMID:12477932	PMID:12743021	PMID:15057824	PMID:15342556	PMID:15489334	PMID:16344560	PMID:21873635	PMID:28514442	PMID:29507755	PMID:30804502	PMID:32296183
PMID:32393512	PMID:33961781	PMID:40593736

Genomics

Comparative Map Data

ZNF221
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	19	43,951,228 - 43,981,613 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	19	43,951,204 - 43,972,739 (+)	Ensembl		GRCh38.p14 Ensembl	hg38	GRCh38
GRCh37	19	44,455,380 - 44,471,861 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	19	49,147,237 - 49,163,592 (+)	NCBI	Build 36	Build 36	hg18	NCBI36
Build 34	19	49,147,236 - 49,163,701	NCBI
Celera	19	41,258,930 - 41,275,263 (+)	NCBI		Celera
Cytogenetic Map	19	q13.31	NCBI
HuRef	19	40,887,651 - 40,903,984 (+)	NCBI		HuRef
CHM1_1	19	44,457,327 - 44,473,678 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	19	46,774,167 - 46,793,142 (+)	NCBI		T2T-CHM13v2.0

ZNF221
(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	20	50,113,340 - 50,141,896 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	19	51,985,726 - 52,014,280 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	19	40,900,192 - 40,916,949 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	19	49,511,048 - 49,526,958 (+)	NCBI	PanPan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	19	49,522,225 - 49,526,848 (+)	Ensembl		PanPan1.1 Ensembl	panPan2	panpan1.1

ZNF221
(Chlorocebus sabaeus - green monkey)

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
mChlSab1.0.hap1	6	13,900,831 - 13,920,220 (-)	NCBI		mChlSab1.0.hap1
Vero_WHO_p1.0	NW_023666073	16,996,300 - 17,009,001 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0
ChlSab1.1	6	37,451,374 - 37,459,679 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	6	37,455,895 - 37,458,991 (+)	Ensembl		ChlSab1.1 Ensembl	chlSab2	Vervet-AGM

Variants

Variants in ZNF221
63 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
NM_013359.2(ZNF221):c.1318C>T (p.His440Tyr)	single nucleotide variant	Malignant melanoma [RCV000072195]	Chr19:43966820 [GRCh38] Chr19:44470972 [GRCh37] Chr19:49162812 [NCBI36] Chr19:19q13.31	not provided
NM_013359.2(ZNF221):c.1498C>T (p.His500Tyr)	single nucleotide variant	Malignant melanoma [RCV000063563]	Chr19:43967000 [GRCh38] Chr19:44471152 [GRCh37] Chr19:49162992 [NCBI36] Chr19:19q13.31	not provided
GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	copy number gain	Developmental delay AND/OR other significant developmental or morphological phenotypes [RCV000133888]	Chr19:19p13.2-q13.31	pathogenic
GRCh37/hg19 19q13.31(chr19:44466919-45029206)x1	copy number loss	Breast ductal adenocarcinoma [RCV000207290]	Chr19:44466919..45029206 [GRCh37] Chr19:19q13.31	uncertain significance
GRCh37/hg19 19q13.31-13.32(chr19:44300416-45639540)x1	copy number loss	See cases [RCV000512107]	Chr19:19q13.31-13.32	uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	copy number gain	Ventricular septal defect [RCV000511289]	Chr19:19p13.3-q13.43	pathogenic\|uncertain significance
NM_001297588.2(ZNF221):c.358T>C (p.Trp120Arg)	single nucleotide variant	not specified [RCV004294698]	Chr19:43965860 [GRCh38] Chr19:44470012 [GRCh37] Chr19:19q13.31	uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	copy number gain	Abnormality of the ear [RCV000512296]	Chr19:19p13.3-q13.43	pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3	copy number gain	not provided [RCV000752444]	Chr19:260912..59097160 [GRCh37] Chr19:19p13.3-q13.43	pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3	copy number gain	not provided [RCV000752439]	Chr19:68029..59110290 [GRCh37] Chr19:19p13.3-q13.43	pathogenic
Single allele	duplication	Schizophrenia [RCV000754211]	Chr19:19q13.2-13.31	likely pathogenic
GRCh37/hg19 19q13.31(chr19:44470177-44513250)x3	copy number gain	not provided [RCV000740181]	Chr19:44470177..44513250 [GRCh37] Chr19:19q13.31	benign
GRCh37/hg19 19q13.31(chr19:44470331-44513250)x3	copy number gain	not provided [RCV000740182]	Chr19:44470331..44513250 [GRCh37] Chr19:19q13.31	benign
GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	copy number gain	not provided [RCV000845733]	Chr19:19q11-13.33	pathogenic
NM_001297588.2(ZNF221):c.-2-150G>A	single nucleotide variant	Ovarian serous cystadenocarcinoma [RCV006141037]	Chr19:43962575 [GRCh38] Chr19:44466727 [GRCh37] Chr19:19q13.31	evidence_only
NM_001297588.2(ZNF221):c.1105G>A (p.Glu369Lys)	single nucleotide variant	not specified [RCV005512665]	Chr19:43966607 [GRCh38] Chr19:44470759 [GRCh37] Chr19:19q13.31	uncertain significance
GRCh37/hg19 19q13.2-13.32(chr19:43013365-47241534)x1	copy number loss	Delayed gross motor development [RCV000240182]	Chr19:19q13.2-13.32	pathogenic
NM_001297588.2(ZNF221):c.710A>G (p.Gln237Arg)	single nucleotide variant	not specified [RCV005306792]	Chr19:43966212 [GRCh38] Chr19:44470364 [GRCh37] Chr19:19q13.31	uncertain significance
NC_000019.9:g.(?_44011002)_(45213778_?)dup	duplication	Ethylmalonic encephalopathy [RCV003116731]	Chr19:19q13.31-13.32	uncertain significance
NM_001297588.2(ZNF221):c.182A>G (p.Glu61Gly)	single nucleotide variant	not specified [RCV004204103]	Chr19:43965050 [GRCh38] Chr19:44469202 [GRCh37] Chr19:19q13.31	uncertain significance
NM_001297588.2(ZNF221):c.1418C>T (p.Thr473Met)	single nucleotide variant	not specified [RCV004194312]	Chr19:43966920 [GRCh38] Chr19:44471072 [GRCh37] Chr19:19q13.31	uncertain significance
NM_001297588.2(ZNF221):c.958C>T (p.Arg320Cys)	single nucleotide variant	not specified [RCV004205212]	Chr19:43966460 [GRCh38] Chr19:44470612 [GRCh37] Chr19:19q13.31	uncertain significance
NM_001297588.2(ZNF221):c.1429C>A (p.Pro477Thr)	single nucleotide variant	not specified [RCV004108604]	Chr19:43966931 [GRCh38] Chr19:44471083 [GRCh37] Chr19:19q13.31	uncertain significance
NM_001297588.2(ZNF221):c.1643A>G (p.Asn548Ser)	single nucleotide variant	not specified [RCV004192765]	Chr19:43967145 [GRCh38] Chr19:44471297 [GRCh37] Chr19:19q13.31	uncertain significance
NM_001297588.2(ZNF221):c.722T>G (p.Leu241Arg)	single nucleotide variant	not specified [RCV004207972]	Chr19:43966224 [GRCh38] Chr19:44470376 [GRCh37] Chr19:19q13.31	uncertain significance
NM_001297588.2(ZNF221):c.159G>T (p.Lys53Asn)	single nucleotide variant	not specified [RCV004139407]	Chr19:43965027 [GRCh38] Chr19:44469179 [GRCh37] Chr19:19q13.31	uncertain significance
NM_001297588.2(ZNF221):c.623G>C (p.Cys208Ser)	single nucleotide variant	not specified [RCV004211847]	Chr19:43966125 [GRCh38] Chr19:44470277 [GRCh37] Chr19:19q13.31	uncertain significance
NM_001297588.2(ZNF221):c.1310G>A (p.Arg437Gln)	single nucleotide variant	not specified [RCV004233964]	Chr19:43966812 [GRCh38] Chr19:44470964 [GRCh37] Chr19:19q13.31	uncertain significance
NM_001297588.2(ZNF221):c.641A>G (p.His214Arg)	single nucleotide variant	not specified [RCV004080035]	Chr19:43966143 [GRCh38] Chr19:44470295 [GRCh37] Chr19:19q13.31	likely benign
NM_001297588.2(ZNF221):c.743A>C (p.His248Pro)	single nucleotide variant	not specified [RCV004180781]	Chr19:43966245 [GRCh38] Chr19:44470397 [GRCh37] Chr19:19q13.31	uncertain significance
NM_001297588.2(ZNF221):c.1504G>A (p.Gly502Arg)	single nucleotide variant	not provided [RCV004235573]	Chr19:43967006 [GRCh38] Chr19:44471158 [GRCh37] Chr19:19q13.31	uncertain significance
NM_001297588.2(ZNF221):c.446A>G (p.Glu149Gly)	single nucleotide variant	not specified [RCV004197863]	Chr19:43965948 [GRCh38] Chr19:44470100 [GRCh37] Chr19:19q13.31	uncertain significance
NM_001297588.2(ZNF221):c.1507G>C (p.Glu503Gln)	single nucleotide variant	not specified [RCV005523435]	Chr19:43967009 [GRCh38] Chr19:44471161 [GRCh37] Chr19:19q13.31	uncertain significance
NM_001297588.2(ZNF221):c.898C>T (p.His300Tyr)	single nucleotide variant	not specified [RCV005512664]	Chr19:43966400 [GRCh38] Chr19:44470552 [GRCh37] Chr19:19q13.31	uncertain significance
NM_001297588.2(ZNF221):c.1571A>G (p.His524Arg)	single nucleotide variant	not specified [RCV006349701]	Chr19:43967073 [GRCh38] Chr19:44471225 [GRCh37] Chr19:19q13.31	uncertain significance
NM_001297588.2(ZNF221):c.407C>T (p.Ser136Phe)	single nucleotide variant	not specified [RCV006349704]	Chr19:43965909 [GRCh38] Chr19:44470061 [GRCh37] Chr19:19q13.31	uncertain significance
NM_001297588.2(ZNF221):c.1687A>T (p.Asn563Tyr)	single nucleotide variant	not specified [RCV006349706]	Chr19:43967189 [GRCh38] Chr19:44471341 [GRCh37] Chr19:19q13.31	uncertain significance
NM_001297588.2(ZNF221):c.224A>T (p.His75Leu)	single nucleotide variant	not specified [RCV006349708]	Chr19:43965248 [GRCh38] Chr19:44469400 [GRCh37] Chr19:19q13.31	uncertain significance
NM_001297588.2(ZNF221):c.592C>G (p.His198Asp)	single nucleotide variant	not specified [RCV006349711]	Chr19:43966094 [GRCh38] Chr19:44470246 [GRCh37] Chr19:19q13.31	uncertain significance
NM_001297588.2(ZNF221):c.1834T>C (p.Cys612Arg)	single nucleotide variant	not specified [RCV004323229]	Chr19:43967336 [GRCh38] Chr19:44471488 [GRCh37] Chr19:19q13.31	uncertain significance
NM_001297588.2(ZNF221):c.1042C>G (p.Arg348Gly)	single nucleotide variant	not specified [RCV004268727]	Chr19:43966544 [GRCh38] Chr19:44470696 [GRCh37] Chr19:19q13.31	uncertain significance
NM_001297588.2(ZNF221):c.1623G>C (p.Lys541Asn)	single nucleotide variant	not specified [RCV004281029]	Chr19:43967125 [GRCh38] Chr19:44471277 [GRCh37] Chr19:19q13.31	uncertain significance
NM_001297588.2(ZNF221):c.701A>G (p.Glu234Gly)	single nucleotide variant	not specified [RCV005512663]	Chr19:43966203 [GRCh38] Chr19:44470355 [GRCh37] Chr19:19q13.31	uncertain significance
NM_001297588.2(ZNF221):c.623G>A (p.Cys208Tyr)	single nucleotide variant	not specified [RCV004274992]	Chr19:43966125 [GRCh38] Chr19:44470277 [GRCh37] Chr19:19q13.31	uncertain significance
NM_001297588.2(ZNF221):c.1180T>C (p.Tyr394His)	single nucleotide variant	not specified [RCV004253367]	Chr19:43966682 [GRCh38] Chr19:44470834 [GRCh37] Chr19:19q13.31	uncertain significance
NM_001297588.2(ZNF221):c.787T>C (p.Phe263Leu)	single nucleotide variant	not specified [RCV004302715]	Chr19:43966289 [GRCh38] Chr19:44470441 [GRCh37] Chr19:19q13.31	uncertain significance
NM_001297588.2(ZNF221):c.130C>G (p.Leu44Val)	single nucleotide variant	not specified [RCV005512661]	Chr19:43964998 [GRCh38] Chr19:44469150 [GRCh37] Chr19:19q13.31	uncertain significance
NM_001297588.2(ZNF221):c.821A>G (p.Lys274Arg)	single nucleotide variant	Adrenocortical carcinoma, hereditary [RCV006141042]	Chr19:43966323 [GRCh38] Chr19:44470475 [GRCh37] Chr19:19q13.31	evidence_only
NM_001297588.2(ZNF221):c.491A>G (p.His164Arg)	single nucleotide variant	not specified [RCV005523433]	Chr19:43965993 [GRCh38] Chr19:44470145 [GRCh37] Chr19:19q13.31	uncertain significance
NM_001297588.2(ZNF221):c.1195T>G (p.Cys399Gly)	single nucleotide variant	not specified [RCV006349709]	Chr19:43966697 [GRCh38] Chr19:44470849 [GRCh37] Chr19:19q13.31	uncertain significance
NM_001297588.2(ZNF221):c.1631A>T (p.Asn544Ile)	single nucleotide variant	not specified [RCV006349712]	Chr19:43967133 [GRCh38] Chr19:44471285 [GRCh37] Chr19:19q13.31	uncertain significance
NM_001297588.2(ZNF221):c.757C>T (p.Pro253Ser)	single nucleotide variant	not specified [RCV006349703]	Chr19:43966259 [GRCh38] Chr19:44470411 [GRCh37] Chr19:19q13.31	uncertain significance
NM_001297588.2(ZNF221):c.965G>A (p.Arg322Lys)	single nucleotide variant	not specified [RCV006349702]	Chr19:43966467 [GRCh38] Chr19:44470619 [GRCh37] Chr19:19q13.31	uncertain significance
NM_001297588.2(ZNF221):c.1484A>G (p.Lys495Arg)	single nucleotide variant	not specified [RCV006349705]	Chr19:43966986 [GRCh38] Chr19:44471138 [GRCh37] Chr19:19q13.31	uncertain significance
NM_001297588.2(ZNF221):c.699G>T (p.Lys233Asn)	single nucleotide variant	not specified [RCV006349710]	Chr19:43966201 [GRCh38] Chr19:44470353 [GRCh37] Chr19:19q13.31	uncertain significance
NM_001297588.2(ZNF221):c.971G>A (p.Arg324Lys)	single nucleotide variant	not specified [RCV006349713]	Chr19:43966473 [GRCh38] Chr19:44470625 [GRCh37] Chr19:19q13.31	uncertain significance
NM_001297588.2(ZNF221):c.820A>G (p.Lys274Glu)	single nucleotide variant	not specified [RCV004344427]	Chr19:43966322 [GRCh38] Chr19:44470474 [GRCh37] Chr19:19q13.31	uncertain significance
NM_001297588.2(ZNF221):c.878A>G (p.His293Arg)	single nucleotide variant	not specified [RCV006349707]	Chr19:43966380 [GRCh38] Chr19:44470532 [GRCh37] Chr19:19q13.31	uncertain significance
NM_001297588.2(ZNF221):c.467T>C (p.Ile156Thr)	single nucleotide variant	not specified [RCV005512659]	Chr19:43965969 [GRCh38] Chr19:44470121 [GRCh37] Chr19:19q13.31	uncertain significance
NM_001297588.2(ZNF221):c.1102T>C (p.Cys368Arg)	single nucleotide variant	not specified [RCV005523434]	Chr19:43966604 [GRCh38] Chr19:44470756 [GRCh37] Chr19:19q13.31	uncertain significance
NM_001297588.2(ZNF221):c.737G>T (p.Arg246Ile)	single nucleotide variant	not specified [RCV004353424]	Chr19:43966239 [GRCh38] Chr19:44470391 [GRCh37] Chr19:19q13.31	uncertain significance
NM_001297588.2(ZNF221):c.106G>T (p.Ala36Ser)	single nucleotide variant	not specified [RCV004337310]	Chr19:43964974 [GRCh38] Chr19:44469126 [GRCh37] Chr19:19q13.31	uncertain significance
NM_001297588.2(ZNF221):c.1072A>G (p.Met358Val)	single nucleotide variant	not specified [RCV004491820]	Chr19:43966574 [GRCh38] Chr19:44470726 [GRCh37] Chr19:19q13.31	uncertain significance
NM_001297588.2(ZNF221):c.1181A>G (p.Tyr394Cys)	single nucleotide variant	not specified [RCV004491821]	Chr19:43966683 [GRCh38] Chr19:44470835 [GRCh37] Chr19:19q13.31	uncertain significance
NM_001297588.2(ZNF221):c.240C>A (p.His80Gln)	single nucleotide variant	not specified [RCV004491824]	Chr19:43965264 [GRCh38] Chr19:44469416 [GRCh37] Chr19:19q13.31	uncertain significance
NM_001297588.2(ZNF221):c.586A>G (p.Lys196Glu)	single nucleotide variant	not specified [RCV004491827]	Chr19:43966088 [GRCh38] Chr19:44470240 [GRCh37] Chr19:19q13.31	uncertain significance
NM_001297588.2(ZNF221):c.914C>A (p.Thr305Asn)	single nucleotide variant	not specified [RCV004491828]	Chr19:43966416 [GRCh38] Chr19:44470568 [GRCh37] Chr19:19q13.31	uncertain significance
NM_001297588.2(ZNF221):c.959G>A (p.Arg320His)	single nucleotide variant	not specified [RCV004491830]	Chr19:43966461 [GRCh38] Chr19:44470613 [GRCh37] Chr19:19q13.31	uncertain significance
NM_001297588.2(ZNF221):c.278C>A (p.Thr93Lys)	single nucleotide variant	not specified [RCV004491825]	Chr19:43965302 [GRCh38] Chr19:44469454 [GRCh37] Chr19:19q13.31	uncertain significance
NM_001297588.2(ZNF221):c.1469C>T (p.Ala490Val)	single nucleotide variant	not specified [RCV004491822]	Chr19:43966971 [GRCh38] Chr19:44471123 [GRCh37] Chr19:19q13.31	uncertain significance
NM_001297588.2(ZNF221):c.1625G>T (p.Gly542Val)	single nucleotide variant	not specified [RCV004491823]	Chr19:43967127 [GRCh38] Chr19:44471279 [GRCh37] Chr19:19q13.31	uncertain significance
NM_001297588.2(ZNF221):c.454G>A (p.Val152Ile)	single nucleotide variant	not specified [RCV004491826]	Chr19:43965956 [GRCh38] Chr19:44470108 [GRCh37] Chr19:19q13.31	uncertain significance
NM_001297588.2(ZNF221):c.940A>C (p.Ile314Leu)	single nucleotide variant	not specified [RCV004491829]	Chr19:43966442 [GRCh38] Chr19:44470594 [GRCh37] Chr19:19q13.31	uncertain significance
NM_001297588.2(ZNF221):c.822A>T (p.Lys274Asn)	single nucleotide variant	not specified [RCV004688176]	Chr19:43966324 [GRCh38] Chr19:44470476 [GRCh37] Chr19:19q13.31	uncertain significance
NM_001297588.2(ZNF221):c.628A>G (p.Ser210Gly)	single nucleotide variant	not specified [RCV004688175]	Chr19:43966130 [GRCh38] Chr19:44470282 [GRCh37] Chr19:19q13.31	uncertain significance
NM_001297588.2(ZNF221):c.79A>C (p.Lys27Gln)	single nucleotide variant	not specified [RCV004688181]	Chr19:43962805 [GRCh38] Chr19:44466957 [GRCh37] Chr19:19q13.31	uncertain significance
NM_001297588.2(ZNF221):c.343G>A (p.Gly115Arg)	single nucleotide variant	not specified [RCV004688177]	Chr19:43965845 [GRCh38] Chr19:44469997 [GRCh37] Chr19:19q13.31	uncertain significance
NM_001297588.2(ZNF221):c.1079A>G (p.His360Arg)	single nucleotide variant	not specified [RCV004688179]	Chr19:43966581 [GRCh38] Chr19:44470733 [GRCh37] Chr19:19q13.31	uncertain significance
NM_001297588.2(ZNF221):c.1690T>C (p.Cys564Arg)	single nucleotide variant	not specified [RCV004688180]	Chr19:43967192 [GRCh38] Chr19:44471344 [GRCh37] Chr19:19q13.31	uncertain significance
NM_001297588.2(ZNF221):c.663G>A (p.Met221Ile)	single nucleotide variant	not specified [RCV004688178]	Chr19:43966165 [GRCh38] Chr19:44470317 [GRCh37] Chr19:19q13.31	uncertain significance
NM_001297588.2(ZNF221):c.877C>T (p.His293Tyr)	single nucleotide variant	not specified [RCV004890896]	Chr19:43966379 [GRCh38] Chr19:44470531 [GRCh37] Chr19:19q13.31	uncertain significance
NM_001297588.2(ZNF221):c.418A>G (p.Ile140Val)	single nucleotide variant	not specified [RCV004890897]	Chr19:43965920 [GRCh38] Chr19:44470072 [GRCh37] Chr19:19q13.31	uncertain significance
NM_001297588.2(ZNF221):c.1433A>G (p.Tyr478Cys)	single nucleotide variant	not specified [RCV004890898]	Chr19:43966935 [GRCh38] Chr19:44471087 [GRCh37] Chr19:19q13.31	uncertain significance
NM_001297588.2(ZNF221):c.1019G>A (p.Cys340Tyr)	single nucleotide variant	not specified [RCV004890899]	Chr19:43966521 [GRCh38] Chr19:44470673 [GRCh37] Chr19:19q13.31	uncertain significance
NM_001297588.2(ZNF221):c.1463G>T (p.Gly488Val)	single nucleotide variant	not specified [RCV004890900]	Chr19:43966965 [GRCh38] Chr19:44471117 [GRCh37] Chr19:19q13.31	uncertain significance
NM_001297588.2(ZNF221):c.976A>C (p.Asn326His)	single nucleotide variant	not specified [RCV004890901]	Chr19:43966478 [GRCh38] Chr19:44470630 [GRCh37] Chr19:19q13.31	uncertain significance
NM_001297588.2(ZNF221):c.1421G>A (p.Gly474Asp)	single nucleotide variant	not specified [RCV004890902]	Chr19:43966923 [GRCh38] Chr19:44471075 [GRCh37] Chr19:19q13.31	uncertain significance
NM_001297588.2(ZNF221):c.739G>C (p.Val247Leu)	single nucleotide variant	not specified [RCV004890903]	Chr19:43966241 [GRCh38] Chr19:44470393 [GRCh37] Chr19:19q13.31	uncertain significance
NM_001297588.2(ZNF221):c.544G>T (p.Val182Phe)	single nucleotide variant	not specified [RCV004890904]	Chr19:43966046 [GRCh38] Chr19:44470198 [GRCh37] Chr19:19q13.31	uncertain significance
NM_001297588.2(ZNF221):c.1807A>G (p.Thr603Ala)	single nucleotide variant	not specified [RCV004890891]	Chr19:43967309 [GRCh38] Chr19:44471461 [GRCh37] Chr19:19q13.31	uncertain significance
NM_001297588.2(ZNF221):c.190A>G (p.Arg64Gly)	single nucleotide variant	not specified [RCV004890892]	Chr19:43965058 [GRCh38] Chr19:44469210 [GRCh37] Chr19:19q13.31	uncertain significance
NM_001297588.2(ZNF221):c.226C>A (p.Gln76Lys)	single nucleotide variant	not specified [RCV004890893]	Chr19:43965250 [GRCh38] Chr19:44469402 [GRCh37] Chr19:19q13.31	uncertain significance
NM_001297588.2(ZNF221):c.539G>A (p.Ser180Asn)	single nucleotide variant	not specified [RCV004890895]	Chr19:43966041 [GRCh38] Chr19:44470193 [GRCh37] Chr19:19q13.31	uncertain significance
NM_001297588.2(ZNF221):c.1043G>A (p.Arg348His)	single nucleotide variant	not specified [RCV005306791]	Chr19:43966545 [GRCh38] Chr19:44470697 [GRCh37] Chr19:19q13.31	uncertain significance
NM_001297588.2(ZNF221):c.1553G>A (p.Ser518Asn)	single nucleotide variant	not specified [RCV005306790]	Chr19:43967055 [GRCh38] Chr19:44471207 [GRCh37] Chr19:19q13.31	uncertain significance
NM_001297588.2(ZNF221):c.40T>C (p.Cys14Arg)	single nucleotide variant	not specified [RCV005306793]	Chr19:43962766 [GRCh38] Chr19:44466918 [GRCh37] Chr19:19q13.31	uncertain significance
NM_001297588.2(ZNF221):c.1710C>G (p.Ser570Arg)	single nucleotide variant	not specified [RCV005302800]	Chr19:43967212 [GRCh38] Chr19:44471364 [GRCh37] Chr19:19q13.31	uncertain significance
NM_001297588.2(ZNF221):c.405G>C (p.Arg135Ser)	single nucleotide variant	not specified [RCV005302801]	Chr19:43965907 [GRCh38] Chr19:44470059 [GRCh37] Chr19:19q13.31	uncertain significance
NM_001297588.2(ZNF221):c.268A>G (p.Met90Val)	single nucleotide variant	not specified [RCV005302802]	Chr19:43965292 [GRCh38] Chr19:44469444 [GRCh37] Chr19:19q13.31	uncertain significance
NM_001297588.2(ZNF221):c.419T>C (p.Ile140Thr)	single nucleotide variant	not specified [RCV005512660]	Chr19:43965921 [GRCh38] Chr19:44470073 [GRCh37] Chr19:19q13.31	uncertain significance
NM_001297588.2(ZNF221):c.382C>A (p.Gln128Lys)	single nucleotide variant	not specified [RCV005523432]	Chr19:43965884 [GRCh38] Chr19:44470036 [GRCh37] Chr19:19q13.31	uncertain significance
NM_001297588.2(ZNF221):c.1673G>A (p.Gly558Glu)	single nucleotide variant	not specified [RCV005785242]	Chr19:43967175 [GRCh38] Chr19:44471327 [GRCh37] Chr19:19q13.31	uncertain significance
NM_001297588.2(ZNF221):c.765A>T (p.Lys255Asn)	single nucleotide variant	not specified [RCV005785244]	Chr19:43966267 [GRCh38] Chr19:44470419 [GRCh37] Chr19:19q13.31	uncertain significance
NM_001297588.2(ZNF221):c.244T>G (p.Leu82Val)	single nucleotide variant	not specified [RCV005785245]	Chr19:43965268 [GRCh38] Chr19:44469420 [GRCh37] Chr19:19q13.31	uncertain significance
NM_001297588.2(ZNF221):c.688G>A (p.Val230Met)	single nucleotide variant	not specified [RCV005785248]	Chr19:43966190 [GRCh38] Chr19:44470342 [GRCh37] Chr19:19q13.31	uncertain significance
NM_001297588.2(ZNF221):c.1283G>C (p.Gly428Ala)	single nucleotide variant	not specified [RCV005785250]	Chr19:43966785 [GRCh38] Chr19:44470937 [GRCh37] Chr19:19q13.31	uncertain significance
NM_001297588.2(ZNF221):c.995A>G (p.His332Arg)	single nucleotide variant	not specified [RCV005785243]	Chr19:43966497 [GRCh38] Chr19:44470649 [GRCh37] Chr19:19q13.31	uncertain significance
NM_001297588.2(ZNF221):c.144C>A (p.Asp48Glu)	single nucleotide variant	not specified [RCV005785253]	Chr19:43965012 [GRCh38] Chr19:44469164 [GRCh37] Chr19:19q13.31	uncertain significance
NM_001297588.2(ZNF221):c.1289G>A (p.Gly430Glu)	single nucleotide variant	not specified [RCV005785247]	Chr19:43966791 [GRCh38] Chr19:44470943 [GRCh37] Chr19:19q13.31	uncertain significance
NM_001297588.2(ZNF221):c.1662G>T (p.Arg554Ser)	single nucleotide variant	not specified [RCV005785241]	Chr19:43967164 [GRCh38] Chr19:44471316 [GRCh37] Chr19:19q13.31	uncertain significance
NM_001297588.2(ZNF221):c.1661G>A (p.Arg554Lys)	single nucleotide variant	not specified [RCV005785246]	Chr19:43967163 [GRCh38] Chr19:44471315 [GRCh37] Chr19:19q13.31	uncertain significance
NM_001297588.2(ZNF221):c.905G>T (p.Arg302Ile)	single nucleotide variant	not specified [RCV005785240]	Chr19:43966407 [GRCh38] Chr19:44470559 [GRCh37] Chr19:19q13.31	uncertain significance
NM_001297588.2(ZNF221):c.1420G>A (p.Gly474Ser)	single nucleotide variant	not specified [RCV005779098]	Chr19:43966922 [GRCh38] Chr19:44471074 [GRCh37] Chr19:19q13.31	uncertain significance
NM_001297588.2(ZNF221):c.193A>G (p.Asn65Asp)	single nucleotide variant	not specified [RCV005785251]	Chr19:43965061 [GRCh38] Chr19:44469213 [GRCh37] Chr19:19q13.31	uncertain significance
NM_001297588.2(ZNF221):c.481T>C (p.Ser161Pro)	single nucleotide variant	not specified [RCV005779099]	Chr19:43965983 [GRCh38] Chr19:44470135 [GRCh37] Chr19:19q13.31	uncertain significance
NM_001297588.2(ZNF221):c.662T>C (p.Met221Thr)	single nucleotide variant	not specified [RCV005785254]	Chr19:43966164 [GRCh38] Chr19:44470316 [GRCh37] Chr19:19q13.31	uncertain significance
NM_001297588.2(ZNF221):c.1679G>A (p.Arg560Gln)	single nucleotide variant	not specified [RCV005785249]	Chr19:43967181 [GRCh38] Chr19:44471333 [GRCh37] Chr19:19q13.31	uncertain significance

miRNA Target Status (No longer updated)

Predicted Target Of

	Summary Value
Count of predictions:	708
Count of miRNA genes:	374
Interacting mature miRNAs:	396
Transcripts:	ENST00000251269, ENST00000587682, ENST00000591168, ENST00000592350
Prediction methods:	Microtar, 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
1559110	SCL22_H	Serum cholesterol level QTL 22 (human)	3.59	0.000241	Lipid level	LDL cholesterol	19	31907594	57907594	Human
645190754	GWAS3089234_H	cerebral atherosclerosis QTL GWAS3089234 (human)		0.000009	cerebral atherosclerosis		19	43952520	43952521	Human
1331657	COPD9_H	Chronic obstructive pulmonary disease QTL 9 (human)	1.94		Chronic airflow obstruction	post-bronchodilator FEV1	19	31021760	57021760	Human

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	pharyngeal arch	renal system	reproductive system	respiratory system	sensory system	visual system
1204	2435	2785	2252	4972	1720	2344	6	618	1828	459	2269	7164	6346	53	3733	1	848	1742	1616	174	1

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_001297588	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001297589	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_013359	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_017027232	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_017027233	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047439352	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054321986	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XR_007066976	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XR_008485179	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AC006213	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC035150	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF187987	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK314207	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC111981	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC113426	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC143659	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BP337374	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471126	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068259	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DA493401	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KF459580	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000251269 ⟹ ENSP00000251269

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	43,951,204 - 43,967,709 (+)	Ensembl

Ensembl Acc Id:

ENST00000587682 ⟹ ENSP00000467367

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	43,951,228 - 43,967,709 (+)	Ensembl

Ensembl Acc Id:

ENST00000591168 ⟹ ENSP00000464885

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	43,951,223 - 43,965,893 (+)	Ensembl

Ensembl Acc Id:

ENST00000592350 ⟹ ENSP00000467446

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	43,960,276 - 43,967,600 (+)	Ensembl

Ensembl Acc Id:

ENST00000622072 ⟹ ENSP00000477876

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	43,962,723 - 43,967,600 (+)	Ensembl

Ensembl Acc Id:

ENST00000886290 ⟹ ENSP00000556349

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	43,951,204 - 43,967,386 (+)	Ensembl

Ensembl Acc Id:

ENST00001121653 ⟹ ENSP00000791458

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	43,951,204 - 43,972,739 (+)	Ensembl

Ensembl Acc Id:

ENST00001143350 ⟹ ENSP00000814373

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	43,951,204 - 43,967,709 (+)	Ensembl

RefSeq Acc Id:

NM_001297588 ⟹ NP_001284517

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	43,951,228 - 43,967,709 (+)	NCBI
CHM1_1	19	44,457,305 - 44,473,678 (+)	NCBI
T2T-CHM13v2.0	19	46,774,167 - 46,790,633 (+)	NCBI

Sequence:

show sequence

AGACGCTCTGTGGAGTCGCGGGAGCTACGGCTGCGGGAGTTACCCTTTATTCTGTGATATTTTG
AGCTGTTCTGCGTCTCGCAGGCCCTTCTGAATTTCCTGGACCTACTCTCGGAACCCTCAACGAG
CTAGCGATAGATTTAGAGGAAAGGAAGCACCGTCGGAAAGCAAAGGCATGATTTCACCTTCACT
TGAACTGCTTCATTCAGGACTCTGCAAATTCCCTGAAGTAGAAGGAAAAATGACCACATTCAAA
GAGGCAGTGACATTCAAGGATGTGGCTGTGGTCTTCACTGAGGAGGAGCTGGGGCTGCTGGACC
CTGCCCAGAGGAAGCTGTACCGAGATGTGATGCTAGAGAACTTCAGGAACCTGCTCTCAGTAGG
GAATCAACCATTCCACCAAGATACTTTCCACTTCTTAGGGAAGGAAAAGTTTTGGAAGATGAAG
ACAACAAGCCAAAGAGAAGGGAATTCAGGAGGCAAGATCCAAATTGAGATGGAGACTGTTCCAG
AAGCAGGACCACATGAAGAGTGGTCCTGTCAGCAAATATGGGAACAAATTGCAAGTGACCTAAC
CAGGTCTCAAAACTCCATAAGGAACAGCTCTCAGTTCTTCAAAGAAGGTGATGTCCCCTGCCAG
ATTGAGGCAAGACTATCTATAAGTCACGTGCAACAGAAACCTTACCGTTGTAATGAATGTAAAC
AGTCCTTCAGTGATGTTTCTGTCTTTGATCTTCATCAACAATCACACTCAGGAGAGAAATCTCA
TACATGTGGTGAGTGTGGAAAAAGCTTCTGTTACAGCCCAGCCCTTCATATTCATCAGAGAGTC
CATATGGGAGAAAAATGCTATAAGTGTGATGTGTGTGGTAAGGAATTTAATCAGAGCTCACATC
TGCAAACTCATCAGAGAGTCCATACTGGAGAGAAACCATTCAAATGTGGGCAATGTGGGAAAGG
CTTCCATAGTAGATCAGCACTTAATGTTCATTGCAAATTGCACACAGGAGAGAAACCTTATAAT
TGTGAGGAATGTGGGAAAGCCTTCATTCATGATTCACAGCTTCAAGAACATCAGAGAATCCATA
CTGGGGAGAAGCCATTCAAATGTGATATATGTGGTAAGAGCTTCCGTGTTAGATCAAGACTTAA
TAGGCATTCCATGGTTCACACAGGAGAAAAACCATTCAGATGTGATACATGTGGCAAGAACTTT
CGTCAGAGATCAGCACTTAATAGTCATTCCATGGTCCACATAGAAGAGAAGCCATACAAATGTG
AGCAATGTGGAAAAGGCTTCATTTGTAGGCGAGATTTTTGTAAGCATCAGATGGTCCACACAGG
AGAGAAACCATATAATTGTAAAGAATGTGGGAAGACCTTCAGATGGTCCTCATGTCTTTTGAAC
CATCAGCAAGTCCACAGTGGACAAAAATCCTTCAAATGTGAAGAATGTGGGAAGGGATTTTATA
CAAATTCACGACGATCTTCCCATCAGAGATCCCACAATGGAGAAAAGCCATATAACTGTGAGGA
GTGTGGTAAGGACTATAAAAGGAGGTTGGATCTTGAGTTTCACCAGAGGGTCCACACGGGTGAG
AGACCCTATAATTGTAAGGAATGTGGCAAGAGCTTTGGCTGGGCCTCCTGTCTTTTGAAACATC
AGAGACTCCACAGTGGGGAAAAACCTTTCAAATGTGAAGAGTGTGGAAAGAGATTTACTCAGAG
TTCACAACTTCATTCCCATCAGACATGCCATACTGGAGAAAAGCTATACAAATGTGAGCAGTGT
GAGAAGGGGTACAACAGTAAATTTAATCTTGACATGCACCAGAGGGTCCACGGGGGAGAGCGAC
CCTATAATTGTAAGGAATGTGGAAAGAGCTTTGGCTGGGCTTCATGTCTTTTGAAACATCAGAG
ACTCCACAGTGGAGAAAAGCCATTGAAATCTGGAGTGTGGGAAGAGATCTACTCAGAATTCACA
GCTTCATTTACATCAGTAAGTCTATGTGGGAGAAAAGCCATATAAATGTGAGAAGTGTGGGAAG
GGCTTTGGCTGGGCCTCAACTCATCTGACCCATCAATTCTCCACAGCAGAGAAAAACCATTCAA
ATATGAGAACTGTGGGAAGAGCTTTGTACATAGATCATATCTTTTTTTTTTTTTTTTGAGACAG
AGTCTCACTCTTTCACCCAGGCCTGACTGCAGTGGCGCTATCTCAGCTCACTGCAAGCTCCGCC
TCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCA
CCACACCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGG
TCTCGATCTCCTGA

hide sequence

RefSeq Acc Id:

NM_001297589 ⟹ NP_001284518

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	43,951,228 - 43,967,709 (+)	NCBI
CHM1_1	19	44,457,305 - 44,473,678 (+)	NCBI
T2T-CHM13v2.0	19	46,774,167 - 46,790,633 (+)	NCBI

Sequence:

show sequence

AGACGCTCTGTGGAGTCGCGGGAGCTACGGCTGCGGGAGTTACCCTTTATTCTGTGATATTTTG
AGCTGTTCTGCGTCTCGCAGGCCCTTCTGAATTTCCTGGACCTACTCTCGGAACCCTCAACGAG
CTAGCGATAGATTTAGAGGAAAGGAAGCACCGTCGGAAAGCAAAGGTTTGGAAGGGCATGATTT
CACCTTCACTTGAACTGCTTCATTCAGGACTCTGCAAATTCCCTGAAGTAGAAGGAAAAATGAC
CACATTCAAAGAGGCAGTGACATTCAAGGATGTGGCTGTGGTCTTCACTGAGGAGGAGCTGGGG
CTGCTGGACCCTGCCCAGAGGAAGCTGTACCGAGATGTGATGCTAGAGAACTTCAGGAACCTGC
TCTCAGTAGGGAATCAACCATTCCACCAAGATACTTTCCACTTCTTAGGGAAGGAAAAGTTTTG
GAAGATGAAGACAACAAGCCAAAGAGAAGGGAATTCAGGAGGCAAGATCCAAATTGAGATGGAG
ACTGTTCCAGAAGCAGGACCACATGAAGAGTGGTCCTGTCAGCAAATATGGGAACAAATTGCAA
GTGACCTAACCAGGTCTCAAAACTCCATAAGGAACAGCTCTCAGTTCTTCAAAGAAGGTGATGT
CCCCTGCCAGATTGAGGCAAGACTATCTATAAGTCACGTGCAACAGAAACCTTACCGTTGTAAT
GAATGTAAACAGTCCTTCAGTGATGTTTCTGTCTTTGATCTTCATCAACAATCACACTCAGGAG
AGAAATCTCATACATGTGGTGAGTGTGGAAAAAGCTTCTGTTACAGCCCAGCCCTTCATATTCA
TCAGAGAGTCCATATGGGAGAAAAATGCTATAAGTGTGATGTGTGTGGTAAGGAATTTAATCAG
AGCTCACATCTGCAAACTCATCAGAGAGTCCATACTGGAGAGAAACCATTCAAATGTGGGCAAT
GTGGGAAAGGCTTCCATAGTAGATCAGCACTTAATGTTCATTGCAAATTGCACACAGGAGAGAA
ACCTTATAATTGTGAGGAATGTGGGAAAGCCTTCATTCATGATTCACAGCTTCAAGAACATCAG
AGAATCCATACTGGGGAGAAGCCATTCAAATGTGATATATGTGGTAAGAGCTTCCGTGTTAGAT
CAAGACTTAATAGGCATTCCATGGTTCACACAGGAGAAAAACCATTCAGATGTGATACATGTGG
CAAGAACTTTCGTCAGAGATCAGCACTTAATAGTCATTCCATGGTCCACATAGAAGAGAAGCCA
TACAAATGTGAGCAATGTGGAAAAGGCTTCATTTGTAGGCGAGATTTTTGTAAGCATCAGATGG
TCCACACAGGAGAGAAACCATATAATTGTAAAGAATGTGGGAAGACCTTCAGATGGTCCTCATG
TCTTTTGAACCATCAGCAAGTCCACAGTGGACAAAAATCCTTCAAATGTGAAGAATGTGGGAAG
GGATTTTATACAAATTCACGACGATCTTCCCATCAGAGATCCCACAATGGAGAAAAGCCATATA
ACTGTGAGGAGTGTGGTAAGGACTATAAAAGGAGGTTGGATCTTGAGTTTCACCAGAGGGTCCA
CACGGGTGAGAGACCCTATAATTGTAAGGAATGTGGCAAGAGCTTTGGCTGGGCCTCCTGTCTT
TTGAAACATCAGAGACTCCACAGTGGGGAAAAACCTTTCAAATGTGAAGAGTGTGGAAAGAGAT
TTACTCAGAGTTCACAACTTCATTCCCATCAGACATGCCATACTGGAGAAAAGCTATACAAATG
TGAGCAGTGTGAGAAGGGGTACAACAGTAAATTTAATCTTGACATGCACCAGAGGGTCCACGGG
GGAGAGCGACCCTATAATTGTAAGGAATGTGGAAAGAGCTTTGGCTGGGCTTCATGTCTTTTGA
AACATCAGAGACTCCACAGTGGAGAAAAGCCATTGAAATCTGGAGTGTGGGAAGAGATCTACTC
AGAATTCACAGCTTCATTTACATCAGTAAGTCTATGTGGGAGAAAAGCCATATAAATGTGAGAA
GTGTGGGAAGGGCTTTGGCTGGGCCTCAACTCATCTGACCCATCAATTCTCCACAGCAGAGAAA
AACCATTCAAATATGAGAACTGTGGGAAGAGCTTTGTACATAGATCATATCTTTTTTTTTTTTT
TTTGAGACAGAGTCTCACTCTTTCACCCAGGCCTGACTGCAGTGGCGCTATCTCAGCTCACTGC
AAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAG
GTGCCCGCCACCACACCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTA
GCCAGGATGGTCTCGATCTCCTGA

hide sequence

RefSeq Acc Id:

NM_013359 ⟹ NP_037491

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	43,951,228 - 43,967,709 (+)	NCBI
GRCh37	19	44,455,375 - 44,471,752 (+)	NCBI
Build 36	19	49,147,237 - 49,163,592 (+)	NCBI Archive
Celera	19	41,258,930 - 41,275,263 (+)	RGD
HuRef	19	40,887,651 - 40,903,984 (+)	RGD
CHM1_1	19	44,457,327 - 44,473,678 (+)	NCBI
T2T-CHM13v2.0	19	46,774,167 - 46,790,633 (+)	NCBI

Sequence:

show sequence

AGACGCTCTGTGGAGTCGCGGGAGCTACGGCTGCGGGAGTTACCCTTTATTCTGTGATATTTTG
AGCTGTTCTGCGTCTCGCAGGCCCTTCTGAATTTCCTGGACCTACTCTCGGAACCCTCAACGAG
CTAGCGATAGATTTAGAGGAAAGGAAGCACCGTCGGAAAGCAAAGGGATTTCTGGAAGCTTGAA
CTTAAGAGTGATAACTTAGGGTACCTGGCAAAAGAAATTTCTGAGCAGCAAAGCATTCAAGAAG
TGGCCTGGCTGCCTCACTGCTTCAAACAGCCTACAATTATATATGGGAGCAAAAAAATGACTTA
AAGTTGGAATTTATATTTAAAAGGCATGATTTCACCTTCACTTGAACTGCTTCATTCAGGACTC
TGCAAATTCCCTGAAGTAGAAGGAAAAATGACCACATTCAAAGAGGCAGTGACATTCAAGGATG
TGGCTGTGGTCTTCACTGAGGAGGAGCTGGGGCTGCTGGACCCTGCCCAGAGGAAGCTGTACCG
AGATGTGATGCTAGAGAACTTCAGGAACCTGCTCTCAGTAGGGAATCAACCATTCCACCAAGAT
ACTTTCCACTTCTTAGGGAAGGAAAAGTTTTGGAAGATGAAGACAACAAGCCAAAGAGAAGGGA
ATTCAGGAGGCAAGATCCAAATTGAGATGGAGACTGTTCCAGAAGCAGGACCACATGAAGAGTG
GTCCTGTCAGCAAATATGGGAACAAATTGCAAGTGACCTAACCAGGTCTCAAAACTCCATAAGG
AACAGCTCTCAGTTCTTCAAAGAAGGTGATGTCCCCTGCCAGATTGAGGCAAGACTATCTATAA
GTCACGTGCAACAGAAACCTTACCGTTGTAATGAATGTAAACAGTCCTTCAGTGATGTTTCTGT
CTTTGATCTTCATCAACAATCACACTCAGGAGAGAAATCTCATACATGTGGTGAGTGTGGAAAA
AGCTTCTGTTACAGCCCAGCCCTTCATATTCATCAGAGAGTCCATATGGGAGAAAAATGCTATA
AGTGTGATGTGTGTGGTAAGGAATTTAATCAGAGCTCACATCTGCAAACTCATCAGAGAGTCCA
TACTGGAGAGAAACCATTCAAATGTGGGCAATGTGGGAAAGGCTTCCATAGTAGATCAGCACTT
AATGTTCATTGCAAATTGCACACAGGAGAGAAACCTTATAATTGTGAGGAATGTGGGAAAGCCT
TCATTCATGATTCACAGCTTCAAGAACATCAGAGAATCCATACTGGGGAGAAGCCATTCAAATG
TGATATATGTGGTAAGAGCTTCCGTGTTAGATCAAGACTTAATAGGCATTCCATGGTTCACACA
GGAGAAAAACCATTCAGATGTGATACATGTGGCAAGAACTTTCGTCAGAGATCAGCACTTAATA
GTCATTCCATGGTCCACATAGAAGAGAAGCCATACAAATGTGAGCAATGTGGAAAAGGCTTCAT
TTGTAGGCGAGATTTTTGTAAGCATCAGATGGTCCACACAGGAGAGAAACCATATAATTGTAAA
GAATGTGGGAAGACCTTCAGATGGTCCTCATGTCTTTTGAACCATCAGCAAGTCCACAGTGGAC
AAAAATCCTTCAAATGTGAAGAATGTGGGAAGGGATTTTATACAAATTCACGACGATCTTCCCA
TCAGAGATCCCACAATGGAGAAAAGCCATATAACTGTGAGGAGTGTGGTAAGGACTATAAAAGG
AGGTTGGATCTTGAGTTTCACCAGAGGGTCCACACGGGTGAGAGACCCTATAATTGTAAGGAAT
GTGGCAAGAGCTTTGGCTGGGCCTCCTGTCTTTTGAAACATCAGAGACTCCACAGTGGGGAAAA
ACCTTTCAAATGTGAAGAGTGTGGAAAGAGATTTACTCAGAGTTCACAACTTCATTCCCATCAG
ACATGCCATACTGGAGAAAAGCTATACAAATGTGAGCAGTGTGAGAAGGGGTACAACAGTAAAT
TTAATCTTGACATGCACCAGAGGGTCCACGGGGGAGAGCGACCCTATAATTGTAAGGAATGTGG
AAAGAGCTTTGGCTGGGCTTCATGTCTTTTGAAACATCAGAGACTCCACAGTGGAGAAAAGCCA
TTGAAATCTGGAGTGTGGGAAGAGATCTACTCAGAATTCACAGCTTCATTTACATCAGTAAGTC
TATGTGGGAGAAAAGCCATATAAATGTGAGAAGTGTGGGAAGGGCTTTGGCTGGGCCTCAACTC
ATCTGACCCATCAATTCTCCACAGCAGAGAAAAACCATTCAAATATGAGAACTGTGGGAAGAGC
TTTGTACATAGATCATATCTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTTTCACCCAGGC
CTGACTGCAGTGGCGCTATCTCAGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCC
TGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCACACCCAGCTAATTTTTTGT
ATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGA

hide sequence

RefSeq Acc Id:

XM_047439352 ⟹ XP_047295308

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	43,960,376 - 43,967,709 (+)	NCBI

RefSeq Acc Id:

XM_054321986 ⟹ XP_054177961

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	19	46,783,304 - 46,790,633 (+)	NCBI

RefSeq Acc Id:

XR_007066976

Type:

NON-CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	43,951,228 - 43,981,613 (+)	NCBI

RefSeq Acc Id:

XR_008485179

Type:

NON-CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	19	46,774,167 - 46,793,142 (+)	NCBI

Protein Sequences


Protein RefSeqs	NP_001284517	(Get FASTA)	NCBI Sequence Viewer
	NP_001284518	(Get FASTA)	NCBI Sequence Viewer
	NP_037491	(Get FASTA)	NCBI Sequence Viewer
	XP_047295308	(Get FASTA)	NCBI Sequence Viewer
	XP_054177961	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAF04103	(Get FASTA)	NCBI Sequence Viewer
	AAF63029	(Get FASTA)	NCBI Sequence Viewer
	AAI11982	(Get FASTA)	NCBI Sequence Viewer
	AAI13427	(Get FASTA)	NCBI Sequence Viewer
	BAG36883	(Get FASTA)	NCBI Sequence Viewer
	EAW57237	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000251269
	ENSP00000251269.4
	ENSP00000467367
	ENSP00000467367.1
	ENSP00000467446.1
	ENSP00000477876.1
GenBank Protein	Q9UK13	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:

NP_037491 ⟸ NM_013359

- UniProtKB:

Q2M2H2 (UniProtKB/Swiss-Prot), K7EIT6 (UniProtKB/Swiss-Prot), B2RAI6 (UniProtKB/Swiss-Prot), Q9P1U8 (UniProtKB/Swiss-Prot), Q9UK13 (UniProtKB/Swiss-Prot), A0A087WT08 (UniProtKB/TrEMBL)

- Sequence:

show sequence

MISPSLELLHSGLCKFPEVEGKMTTFKEAVTFKDVAVVFTEEELGLLDPAQRKLYRDVMLENFR
NLLSVGNQPFHQDTFHFLGKEKFWKMKTTSQREGNSGGKIQIEMETVPEAGPHEEWSCQQIWEQ
IASDLTRSQNSIRNSSQFFKEGDVPCQIEARLSISHVQQKPYRCNECKQSFSDVSVFDLHQQSH
SGEKSHTCGECGKSFCYSPALHIHQRVHMGEKCYKCDVCGKEFNQSSHLQTHQRVHTGEKPFKC
GQCGKGFHSRSALNVHCKLHTGEKPYNCEECGKAFIHDSQLQEHQRIHTGEKPFKCDICGKSFR
VRSRLNRHSMVHTGEKPFRCDTCGKNFRQRSALNSHSMVHIEEKPYKCEQCGKGFICRRDFCKH
QMVHTGEKPYNCKECGKTFRWSSCLLNHQQVHSGQKSFKCEECGKGFYTNSRRSSHQRSHNGEK
PYNCEECGKDYKRRLDLEFHQRVHTGERPYNCKECGKSFGWASCLLKHQRLHSGEKPFKCEECG
KRFTQSSQLHSHQTCHTGEKLYKCEQCEKGYNSKFNLDMHQRVHGGERPYNCKECGKSFGWASC
LLKHQRLHSGEKPLKSGVWEEIYSEFTASFTSVSLCGRKAI

hide sequence

RefSeq Acc Id:

NP_001284518 ⟸ NM_001297589

- UniProtKB:

Q9UK13 (UniProtKB/Swiss-Prot), Q2M2H2 (UniProtKB/Swiss-Prot), K7EIT6 (UniProtKB/Swiss-Prot), B2RAI6 (UniProtKB/Swiss-Prot), Q9P1U8 (UniProtKB/Swiss-Prot), A0A087WT08 (UniProtKB/TrEMBL)

- Sequence:

show sequence

MISPSLELLHSGLCKFPEVEGKMTTFKEAVTFKDVAVVFTEEELGLLDPAQRKLYRDVMLENFR
NLLSVGNQPFHQDTFHFLGKEKFWKMKTTSQREGNSGGKIQIEMETVPEAGPHEEWSCQQIWEQ
IASDLTRSQNSIRNSSQFFKEGDVPCQIEARLSISHVQQKPYRCNECKQSFSDVSVFDLHQQSH
SGEKSHTCGECGKSFCYSPALHIHQRVHMGEKCYKCDVCGKEFNQSSHLQTHQRVHTGEKPFKC
GQCGKGFHSRSALNVHCKLHTGEKPYNCEECGKAFIHDSQLQEHQRIHTGEKPFKCDICGKSFR
VRSRLNRHSMVHTGEKPFRCDTCGKNFRQRSALNSHSMVHIEEKPYKCEQCGKGFICRRDFCKH
QMVHTGEKPYNCKECGKTFRWSSCLLNHQQVHSGQKSFKCEECGKGFYTNSRRSSHQRSHNGEK
PYNCEECGKDYKRRLDLEFHQRVHTGERPYNCKECGKSFGWASCLLKHQRLHSGEKPFKCEECG
KRFTQSSQLHSHQTCHTGEKLYKCEQCEKGYNSKFNLDMHQRVHGGERPYNCKECGKSFGWASC
LLKHQRLHSGEKPLKSGVWEEIYSEFTASFTSVSLCGRKAI

hide sequence

RefSeq Acc Id:

NP_001284517 ⟸ NM_001297588

- UniProtKB:

Q2M2H2 (UniProtKB/Swiss-Prot), K7EIT6 (UniProtKB/Swiss-Prot), B2RAI6 (UniProtKB/Swiss-Prot), Q9P1U8 (UniProtKB/Swiss-Prot), Q9UK13 (UniProtKB/Swiss-Prot), A0A087WT08 (UniProtKB/TrEMBL)

- Sequence:

show sequence

MISPSLELLHSGLCKFPEVEGKMTTFKEAVTFKDVAVVFTEEELGLLDPAQRKLYRDVMLENFR
NLLSVGNQPFHQDTFHFLGKEKFWKMKTTSQREGNSGGKIQIEMETVPEAGPHEEWSCQQIWEQ
IASDLTRSQNSIRNSSQFFKEGDVPCQIEARLSISHVQQKPYRCNECKQSFSDVSVFDLHQQSH
SGEKSHTCGECGKSFCYSPALHIHQRVHMGEKCYKCDVCGKEFNQSSHLQTHQRVHTGEKPFKC
GQCGKGFHSRSALNVHCKLHTGEKPYNCEECGKAFIHDSQLQEHQRIHTGEKPFKCDICGKSFR
VRSRLNRHSMVHTGEKPFRCDTCGKNFRQRSALNSHSMVHIEEKPYKCEQCGKGFICRRDFCKH
QMVHTGEKPYNCKECGKTFRWSSCLLNHQQVHSGQKSFKCEECGKGFYTNSRRSSHQRSHNGEK
PYNCEECGKDYKRRLDLEFHQRVHTGERPYNCKECGKSFGWASCLLKHQRLHSGEKPFKCEECG
KRFTQSSQLHSHQTCHTGEKLYKCEQCEKGYNSKFNLDMHQRVHGGERPYNCKECGKSFGWASC
LLKHQRLHSGEKPLKSGVWEEIYSEFTASFTSVSLCGRKAI

hide sequence

Ensembl Acc Id:

ENSP00000477876 ⟸ ENST00000622072

Ensembl Acc Id:

ENSP00000467367 ⟸ ENST00000587682

Ensembl Acc Id:

ENSP00000464885 ⟸ ENST00000591168

Ensembl Acc Id:

ENSP00000467446 ⟸ ENST00000592350

Ensembl Acc Id:

ENSP00000251269 ⟸ ENST00000251269

RefSeq Acc Id:	XP_047295308 ⟸ XM_047439352
- Peptide Label:	isoform X1
- UniProtKB:	Q9UK13 (UniProtKB/Swiss-Prot), Q2M2H2 (UniProtKB/Swiss-Prot), K7EIT6 (UniProtKB/Swiss-Prot), B2RAI6 (UniProtKB/Swiss-Prot), A0A087WT08 (UniProtKB/Swiss-Prot), Q9P1U8 (UniProtKB/Swiss-Prot)

RefSeq Acc Id:	XP_054177961 ⟸ XM_054321986
- Peptide Label:	isoform X1

Ensembl Acc Id:

ENSP00000556349 ⟸ ENST00000886290

Ensembl Acc Id:

ENSP00000814373 ⟸ ENST00001143350

Ensembl Acc Id:

ENSP00000791458 ⟸ ENST00001121653

Protein Domains

KRAB

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q9UK13-F1-model_v2	AlphaFold	Q9UK13	1-617	view protein structure

Promoters

RGD ID:

7240283

Promoter ID:

EPDNEW_H25887

Type:

initiation region

Name:

ZNF221_1

Description:

zinc finger protein 221

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H25886

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	43,951,228 - 43,951,288	EPDNEW

RGD ID:

6796271

Promoter ID:

HG_KWN:30178

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell, K562, Lymphoblastoid, NB4

Transcripts:

ENST00000251269, UC010EJB.1

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	19	49,146,889 - 49,147,389 (+)	MPROMDB

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:13014	AgrOrtholog
COSMIC	ZNF221	COSMIC
Ensembl Genes	ENSG00000159905	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000251269	ENTREZGENE
	ENST00000251269.9	UniProtKB/Swiss-Prot
	ENST00000587682	ENTREZGENE
	ENST00000587682.6	UniProtKB/Swiss-Prot
	ENST00000592350.5	UniProtKB/Swiss-Prot
	ENST00000622072.1	UniProtKB/Swiss-Prot
Gene3D-CATH	6.10.140.140	UniProtKB/Swiss-Prot
	Classic Zinc Finger	UniProtKB/Swiss-Prot
GTEx	ENSG00000159905	GTEx
HGNC ID	HGNC:13014	ENTREZGENE
Human Proteome Map	ZNF221	Human Proteome Map
InterPro	KRAB	UniProtKB/Swiss-Prot
	KRAB_dom_sf	UniProtKB/Swiss-Prot
	Znf_C2H2_sf	UniProtKB/Swiss-Prot
	Znf_C2H2_type	UniProtKB/Swiss-Prot
KEGG Report	hsa:7638	UniProtKB/Swiss-Prot
NCBI Gene	7638	ENTREZGENE
PANTHER	ZINC FINGER AND BTB DOMAIN-CONTAINING	UniProtKB/Swiss-Prot
	ZINC FINGER PROTEIN 358-RELATED	UniProtKB/Swiss-Prot
Pfam	KRAB	UniProtKB/Swiss-Prot
	zf-C2H2	UniProtKB/Swiss-Prot
PharmGKB	PA37593	PharmGKB
PROSITE	KRAB	UniProtKB/Swiss-Prot
	ZINC_FINGER_C2H2_1	UniProtKB/Swiss-Prot
	ZINC_FINGER_C2H2_2	UniProtKB/Swiss-Prot
SMART	KRAB	UniProtKB/Swiss-Prot
	ZnF_C2H2	UniProtKB/Swiss-Prot
Superfamily-SCOP	SSF109640	UniProtKB/Swiss-Prot
	SSF57667	UniProtKB/Swiss-Prot
UniProt	A0A087WT08	ENTREZGENE
	A0A5H1ZRS7_HUMAN	UniProtKB/TrEMBL
	A0ACI8Q6L6_HUMAN	UniProtKB/TrEMBL
	B2RAI6	ENTREZGENE
	K7EIT6	ENTREZGENE
	Q2M2H2	ENTREZGENE
	Q9P1U8	ENTREZGENE
	Q9UK13	ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary	A0A087WT08	UniProtKB/Swiss-Prot
	B2RAI6	UniProtKB/Swiss-Prot
	K7EIT6	UniProtKB/Swiss-Prot
	Q2M2H2	UniProtKB/Swiss-Prot
	Q9P1U8	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