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Gene: SCRT2 (scratch family transcriptional repressor 2) Homo sapiens

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Symbol:

SCRT2

Name:

scratch family transcriptional repressor 2

RGD ID:

1348701

HGNC Page

HGNC:15952

Description:

Enables sequence-specific double-stranded DNA binding activity. Predicted to be involved in negative regulation of extrinsic apoptotic signaling pathway via death domain receptors and negative regulation of transcription by RNA polymerase II. Predicted to act upstream of or within regulation of neuron migration. Predicted to be located in chromatin.

Type:

protein-coding

RefSeq Status:

VALIDATED

Previously known as:

FLJ43353; scratch 2 protein; scratch family zinc finger 2; scratch homolog 2 zinc finger protein; scratch homolog 2, zinc finger protein; transcriptional repressor scratch 2; ZNF898B

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	20	661,596 - 675,802 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	20	661,596 - 675,802 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	20	642,240 - 656,446 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	20	590,240 - 604,823 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	20	590,240 - 604,823	NCBI
Celera	20	737,069 - 751,655 (-)	NCBI		Celera
Cytogenetic Map	20	p13	NCBI
HuRef	20	593,564 - 608,129 (-)	NCBI		HuRef
CHM1_1	20	642,279 - 656,827 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	20	705,869 - 720,058 (-)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
SCRT2	Human	Brown-Vialetto-Van Laere syndrome 1		IAGP	RGD:151802552	8554872	ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 1	ClinVar	PMID:20206331\|PMID:22824638\|PMID:24239381\|PMID:25462087\|PMID:28492532
SCRT2	Human	Neurodevelopmental Disorders		IAGP	RGD:14698798	8554872	ClinVar Annotator: match by term: Neurodevelopmental disorder	ClinVar	PMID:25741868
SCRT2	Human	Polyglucosan Body Myopathy 1 with or without Immunodeficiency		IAGP	RGD:26892635	8554872	ClinVar Annotator: match by term: Polyglucosan body myopathy 1 with or without immunodeficiency	ClinVar	PMID:28492532

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

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
SCRT2	Human	1,2,4-trichloro-5-(2,5-dichlorophenyl)benzene	multiple interactions	ISO	RGD:1617891	6480464	[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with more ...	CTD	PMID:25510870
SCRT2	Human	2,2',4,4',5,5'-hexachlorobiphenyl	multiple interactions	ISO	RGD:1617891	6480464	[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with more ...	CTD	PMID:25510870
SCRT2	Human	2,2',5,5'-tetrachlorobiphenyl	multiple interactions	ISO	RGD:1617891	6480464	[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with more ...	CTD	PMID:25510870
SCRT2	Human	2,3,7,8-tetrachlorodibenzodioxine	decreases expression	ISO	RGD:1564796	6480464	Tetrachlorodibenzodioxin results in decreased expression of SCRT2 mRNA	CTD	PMID:32109520
SCRT2	Human	2,4,4'-trichlorobiphenyl	multiple interactions	ISO	RGD:1617891	6480464	[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with more ...	CTD	PMID:25510870
SCRT2	Human	4,4'-sulfonyldiphenol	affects methylation	ISO	RGD:1617891	6480464	bisphenol S affects the methylation of SCRT2 gene	CTD	PMID:31683443
SCRT2	Human	4-hydroxyphenyl retinamide	decreases expression	ISO	RGD:1617891	6480464	Fenretinide results in decreased expression of SCRT2 mRNA	CTD	PMID:28973697
SCRT2	Human	6-propyl-2-thiouracil	affects expression	ISO	RGD:1564796	6480464	Propylthiouracil affects the expression of SCRT2 mRNA	CTD	PMID:24780913
SCRT2	Human	Aflatoxin B2 alpha	increases methylation	EXP		6480464	aflatoxin B2 results in increased methylation of SCRT2 3' UTR	CTD	PMID:30157460
SCRT2	Human	benzo[a]pyrene	affects methylation	EXP		6480464	Benzo(a)pyrene affects the methylation of SCRT2 5' UTR	CTD	PMID:27901495
SCRT2	Human	benzo[a]pyrene	decreases methylation	EXP		6480464	Benzo(a)pyrene results in decreased methylation of SCRT2 3' UTR; Benzo(a)pyrene results in decreased methylation of more ...	CTD	PMID:27901495
SCRT2	Human	bisphenol A	decreases expression	ISO	RGD:1564796	6480464	bisphenol A results in decreased expression of SCRT2 mRNA	CTD	PMID:25181051
SCRT2	Human	bisphenol A	increases expression	ISO	RGD:1564796	6480464	bisphenol A results in increased expression of SCRT2 mRNA	CTD	PMID:34947998
SCRT2	Human	bisphenol A	increases methylation	ISO	RGD:1564796	6480464	bisphenol A results in increased methylation of SCRT2 gene	CTD	PMID:28505145
SCRT2	Human	bisphenol F	decreases expression	ISO	RGD:1617891	6480464	bisphenol F results in decreased expression of SCRT2 mRNA	CTD	PMID:30951980
SCRT2	Human	CGP 52608	multiple interactions	EXP		6480464	CGP 52608 promotes the reaction [RORA protein binds to SCRT2 gene]	CTD	PMID:28238834
SCRT2	Human	methamphetamine	increases expression	ISO	RGD:1564796	6480464	Methamphetamine results in increased expression of SCRT2 mRNA	CTD	PMID:19564919
SCRT2	Human	niclosamide	increases expression	EXP		6480464	Niclosamide results in increased expression of SCRT2 mRNA	CTD	PMID:36318118
SCRT2	Human	paracetamol	affects expression	ISO	RGD:1617891	6480464	Acetaminophen affects the expression of SCRT2 mRNA	CTD	PMID:17562736
SCRT2	Human	paracetamol	increases expression	ISO	RGD:1564796	6480464	Acetaminophen results in increased expression of SCRT2 mRNA	CTD	PMID:30723492
SCRT2	Human	PCB138	multiple interactions	ISO	RGD:1617891	6480464	[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with more ...	CTD	PMID:25510870
SCRT2	Human	potassium dichromate	decreases expression	ISO	RGD:1617891	6480464	Potassium Dichromate results in decreased expression of SCRT2 mRNA	CTD	PMID:23608068
SCRT2	Human	resveratrol	multiple interactions	EXP		6480464	[Plant Extracts co-treated with Resveratrol] results in decreased expression of SCRT2 mRNA	CTD	PMID:23557933
SCRT2	Human	silicon dioxide	decreases expression	EXP		6480464	Silicon Dioxide analog results in decreased expression of SCRT2 mRNA	CTD	PMID:23806026
SCRT2	Human	titanium dioxide	increases methylation	ISO	RGD:1617891	6480464	titanium dioxide results in increased methylation of SCRT2 gene	CTD	PMID:35295148
SCRT2	Human	titanium dioxide	decreases methylation	ISO	RGD:1617891	6480464	titanium dioxide results in decreased methylation of SCRT2 gene	CTD	PMID:35295148

Biological Process

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

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
SCRT2	Human	negative regulation of extrinsic apoptotic signaling pathway via death domain receptors	involved_in	ISS	UniProtKB:Q6YI50	150520179		BHF-UCL	GO_REF:0000024
SCRT2	Human	negative regulation of transcription by RNA polymerase II	involved_in	ISS	UniProtKB:Q6YI50	150520179		BHF-UCL	GO_REF:0000024
SCRT2	Human	negative regulation of transcription by RNA polymerase II	acts_upstream_of_or_within	IEA	UniProtKB:Q8BTH6\|ensembl:ENSMUSP00000066280	150520179		Ensembl	GO_REF:0000107
SCRT2	Human	regulation of DNA-templated transcription	involved_in	IBA	FB:FBgn0000286\|FB:FBgn0003448\|FB:FBgn0037618\|FB:FBgn0037621\|FB:FBgn0039946\|FB:FBgn0287768\|MGI:1096393\|MGI:1353563\|MGI:1859823\|MGI:2139287\|MGI:2176606\|MGI:98330\|PANTHER:PTN001227002\|RGD:1310136\|RGD:3722\|UniProtKB:O43623\|UniProtKB:O95863\|UniProtKB:P52747\|UniProtKB:Q2M1K9\|UniProtKB:Q4WJ81\|UniProtKB:Q6DJT9\|UniProtKB:Q8NAP3\|UniProtKB:Q9BWW7\|UniProtKB:Q9P1Z0\|UniProtKB:Q9Y2X9\|WB:WBGene00001324\|ZFIN:ZDB-GENE-030131-4097\|ZFIN:ZDB-GENE-040624-5\|ZFIN:ZDB-GENE-100318-5	150520179		GO_Central	GO_REF:0000033
SCRT2	Human	regulation of neuron migration	acts_upstream_of_or_within	IEA	UniProtKB:Q8BTH6\|ensembl:ENSMUSP00000066280	150520179		Ensembl	GO_REF:0000107

Cellular Component

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

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
SCRT2	Human	chromatin	located_in	ISS	UniProtKB:Q6YI50	150520179		BHF-UCL	GO_REF:0000024
SCRT2	Human	nucleus	located_in	IEA	UniProtKB-SubCell:SL-0191	150520179		UniProt	GO_REF:0000044
SCRT2	Human	nucleus	located_in	IEA	UniProtKB:Q8BTH6\|ensembl:ENSMUSP00000066280	150520179		Ensembl	GO_REF:0000107
SCRT2	Human	nucleus	located_in	IEA	UniProtKB-KW:KW-0539	150520179		UniProt	GO_REF:0000043

Molecular Function

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

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
SCRT2	Human	DNA binding	enables	IEA	UniProtKB-KW:KW-0238	150520179		UniProt	GO_REF:0000043
SCRT2	Human	DNA-binding transcription factor activity, RNA polymerase II-specific	enables	IBA	FB:FBgn0000286\|FB:FBgn0037621\|FB:FBgn0287768\|MGI:1096393\|MGI:1353563\|MGI:1859823\|MGI:2681865\|MGI:98330\|PANTHER:PTN002810938\|UniProtKB:O43623\|UniProtKB:O95863\|UniProtKB:P52747\|UniProtKB:Q6DJT9\|UniProtKB:Q9BWW7\|UniProtKB:Q9P1Z0\|UniProtKB:Q9Y2X9\|ZFIN:ZDB-GENE-030131-4097	150520179		GO_Central	GO_REF:0000033
SCRT2	Human	DNA-binding transcription repressor activity, RNA polymerase II-specific	enables	ISS	UniProtKB:Q6YI50	150520179		BHF-UCL	GO_REF:0000024
SCRT2	Human	E-box binding	enables	ISS	UniProtKB:Q6YI50	150520179		BHF-UCL	GO_REF:0000024
SCRT2	Human	metal ion binding	enables	IEA	UniProtKB-KW:KW-0479	150520179		UniProt	GO_REF:0000043
SCRT2	Human	RNA polymerase II cis-regulatory region sequence-specific DNA binding	enables	IBA	MGI:1353563\|MGI:1859823\|PANTHER:PTN002810938\|UniProtKB:O43623\|UniProtKB:O95863\|UniProtKB:P52747\|UniProtKB:Q6DJT9\|UniProtKB:Q9Y2X9\|ZFIN:ZDB-GENE-030131-4097	150520179		GO_Central	GO_REF:0000033
SCRT2	Human	sequence-specific double-stranded DNA binding	enables	IDA		150520179	PMID:28473536	ARUK-UCL	PMID:28473536
SCRT2	Human	zinc ion binding	enables	IEA	UniProtKB-KW:KW-0863	150520179		UniProt	GO_REF:0000043

#	Reference Title	Reference Citation
1.	GOAs Human GO annotations	GOA_HUMAN data from the GO Consortium
2.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions

PMID:11274425	PMID:11780052	PMID:21252910	PMID:21873635	PMID:23434913	PMID:28473536	PMID:33306668	PMID:33536335	PMID:33961781	PMID:35906200	PMID:36736316

SCRT2
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	20	661,596 - 675,802 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	20	661,596 - 675,802 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	20	642,240 - 656,446 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	20	590,240 - 604,823 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	20	590,240 - 604,823	NCBI
Celera	20	737,069 - 751,655 (-)	NCBI		Celera
Cytogenetic Map	20	p13	NCBI
HuRef	20	593,564 - 608,129 (-)	NCBI		HuRef
CHM1_1	20	642,279 - 656,827 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	20	705,869 - 720,058 (-)	NCBI		T2T-CHM13v2.0

Scrt2
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	2	151,923,737 - 151,937,722 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	2	151,923,449 - 151,937,722 (+)	Ensembl		GRCm39 Ensembl
GRCm38	2	152,081,529 - 152,095,802 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	2	152,081,529 - 152,095,802 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	2	151,907,265 - 151,921,538 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	2	151,770,419 - 151,787,243 (+)	NCBI		MGSCv36	mm8
Celera	2	157,866,976 - 157,911,742 (+)	NCBI		Celera
Cytogenetic Map	2	G3	NCBI
cM Map	2	74.83	NCBI

Scrt2
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	3	161,041,651 - 161,055,596 (+)	NCBI		GRCr8
mRatBN7.2	3	140,581,336 - 140,595,273 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	3	140,581,593 - 140,593,299 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	3	144,486,087 - 144,497,797 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	3	153,069,908 - 153,081,616 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	3	150,810,398 - 150,822,105 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	3	147,585,947 - 147,602,343 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	3	147,585,947 - 147,597,660 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	3	153,934,774 - 153,946,926 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	3	142,434,272 - 142,445,984 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
Celera	3	139,334,894 - 139,345,992 (+)	NCBI		Celera
Cytogenetic Map	3	q41	NCBI

Scrt2
(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_004955597	504,160 - 515,581 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955597	504,160 - 515,609 (-)	NCBI	ChiLan1.0	ChiLan1.0

SCRT2
(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	21	1,752,288 - 1,766,538 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	20	1,749,116 - 1,763,378 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	20	872,121 - 886,773 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3

SCRT2
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Dog10K_Boxer_Tasha	24	19,859,971 - 19,872,419 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	24	20,898,529 - 20,910,978 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	24	20,898,979 - 20,910,966 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	24	20,173,836 - 20,186,277 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	24	20,279,591 - 20,292,019 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	24	20,710,437 - 20,722,875 (+)	NCBI		UU_Cfam_GSD_1.0

Scrt2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	NW_024408640	169,432,655 - 169,435,128 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936485	17,863,644 - 17,864,486 (+)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936485	17,812,995 - 17,866,492 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

SCRT2
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	17	34,558,048 - 34,571,168 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	17	34,558,247 - 34,570,434 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	17	39,399,981 - 39,402,288 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

SCRT2
(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	2	55,842,754 - 55,856,777 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	2	55,842,875 - 55,854,708 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666078	8,096,415 - 8,110,381 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Scrt2
(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_004624741	1,756,746 - 1,769,161 (-)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624741	1,755,596 - 1,769,298 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants in SCRT2
33 total Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 20p13(chr20:89939-1360110)x1	copy number loss	See cases [RCV000050841]	Chr20:89939..1360110 [GRCh38] Chr20:70580..1340754 [GRCh37] Chr20:18580..1288754 [NCBI36] Chr20:20p13	pathogenic
GRCh38/hg38 20p13(chr20:89939-1028206)x3	copy number gain	See cases [RCV000050986]	Chr20:89939..1028206 [GRCh38] Chr20:70580..1008849 [GRCh37] Chr20:18580..956849 [NCBI36] Chr20:20p13	pathogenic
GRCh38/hg38 20p13(chr20:89939-1852477)x1	copy number loss	See cases [RCV000050373]	Chr20:89939..1852477 [GRCh38] Chr20:70580..1833123 [GRCh37] Chr20:18580..1781123 [NCBI36] Chr20:20p13	pathogenic
GRCh38/hg38 20p13-11.21(chr20:89939-25697564)x3	copy number gain	See cases [RCV000051227]	Chr20:89939..25697564 [GRCh38] Chr20:70580..25678200 [GRCh37] Chr20:18580..25626200 [NCBI36] Chr20:20p13-11.21	pathogenic
GRCh38/hg38 20p13-11.23(chr20:89939-19146279)x3	copy number gain	See cases [RCV000051041]	Chr20:89939..19146279 [GRCh38] Chr20:70580..19126923 [GRCh37] Chr20:18580..19074923 [NCBI36] Chr20:20p13-11.23	pathogenic
GRCh38/hg38 20p13(chr20:89939-975656)x1	copy number loss	See cases [RCV000052733]	Chr20:89939..975656 [GRCh38] Chr20:70580..956299 [GRCh37] Chr20:18580..904299 [NCBI36] Chr20:20p13	pathogenic
GRCh38/hg38 20p13(chr20:89939-1939218)x1	copy number loss	See cases [RCV000052735]	Chr20:89939..1939218 [GRCh38] Chr20:70580..1919864 [GRCh37] Chr20:18580..1867864 [NCBI36] Chr20:20p13	pathogenic
GRCh38/hg38 20p13(chr20:89939-1770567)x1	copy number loss	See cases [RCV000052736]	Chr20:89939..1770567 [GRCh38] Chr20:70580..1751213 [GRCh37] Chr20:18580..1699213 [NCBI36] Chr20:20p13	pathogenic
GRCh38/hg38 20p13(chr20:89939-1668795)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052737]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052737]\|See cases [RCV000052737]	Chr20:89939..1668795 [GRCh38] Chr20:70580..1649441 [GRCh37] Chr20:18580..1597441 [NCBI36] Chr20:20p13	pathogenic
GRCh38/hg38 20p13(chr20:121781-2290194)x1	copy number loss	See cases [RCV000052738]	Chr20:121781..2290194 [GRCh38] Chr20:102422..2270840 [GRCh37] Chr20:50422..2218840 [NCBI36] Chr20:20p13	pathogenic
GRCh38/hg38 20p13-11.23(chr20:89939-19071495)x3	copy number gain	See cases [RCV000052995]	Chr20:89939..19071495 [GRCh38] Chr20:70580..19052139 [GRCh37] Chr20:18580..19000139 [NCBI36] Chr20:20p13-11.23	pathogenic
GRCh38/hg38 20p13-11.22(chr20:89939-21787252)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052996]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052996]\|See cases [RCV000052996]	Chr20:89939..21787252 [GRCh38] Chr20:70580..21767890 [GRCh37] Chr20:18580..21715890 [NCBI36] Chr20:20p13-11.22	pathogenic
GRCh38/hg38 20p13-12.1(chr20:89939-14818511)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052997]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052997]\|See cases [RCV000052997]	Chr20:89939..14818511 [GRCh38] Chr20:70580..14799157 [GRCh37] Chr20:18580..14747157 [NCBI36] Chr20:20p13-12.1	pathogenic
GRCh37/hg19 20p13(chr20:406876-802123)x3	copy number gain	See cases [RCV000663384]	Chr20:406876..802123 [GRCh37] Chr20:20p13	uncertain significance
GRCh37/hg19 20p13(chr20:71023-2129746)x1	copy number loss	See cases [RCV000184090]	Chr20:71023..2129746 [GRCh37] Chr20:20p13	pathogenic
GRCh38/hg38 20p13(chr20:590507-661733)x3	copy number gain	See cases [RCV000134502]	Chr20:590507..661733 [GRCh38] Chr20:571151..642377 [GRCh37] Chr20:519151..590377 [NCBI36] Chr20:20p13	benign
GRCh38/hg38 20p13-q11.1(chr20:80106-30227427)x3	copy number gain	See cases [RCV000133996]	Chr20:80106..30227427 [GRCh38] Chr20:60747..29462103 [GRCh37] Chr20:8747..28075764 [NCBI36] Chr20:20p13-q11.1	pathogenic
GRCh38/hg38 20p13(chr20:89939-1494113)x1	copy number loss	See cases [RCV000135804]	Chr20:89939..1494113 [GRCh38] Chr20:70580..1474759 [GRCh37] Chr20:18580..1422759 [NCBI36] Chr20:20p13	pathogenic
GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	copy number gain	See cases [RCV000135859]	Chr20:99557..64277321 [GRCh38] Chr20:80198..62908674 [GRCh37] Chr20:28198..62379118 [NCBI36] Chr20:20p13-q13.33	pathogenic
GRCh38/hg38 20p13(chr20:89939-1246891)x3	copy number gain	See cases [RCV000135794]	Chr20:89939..1246891 [GRCh38] Chr20:70580..1227535 [GRCh37] Chr20:18580..1175535 [NCBI36] Chr20:20p13	uncertain significance
GRCh38/hg38 20p13-12.1(chr20:80106-13029401)x3	copy number gain	See cases [RCV000138677]	Chr20:80106..13029401 [GRCh38] Chr20:60747..13010049 [GRCh37] Chr20:8747..12958049 [NCBI36] Chr20:20p13-12.1	pathogenic
GRCh38/hg38 20p13(chr20:80093-1246766)x1	copy number loss	See cases [RCV000139403]	Chr20:80093..1246766 [GRCh38] Chr20:60734..1227410 [GRCh37] Chr20:8734..1175410 [NCBI36] Chr20:20p13	pathogenic
GRCh38/hg38 20p13(chr20:80106-702368)x3	copy number gain	See cases [RCV000138961]	Chr20:80106..702368 [GRCh38] Chr20:60747..683012 [GRCh37] Chr20:8747..631012 [NCBI36] Chr20:20p13	uncertain significance
GRCh38/hg38 20p13(chr20:364204-879317)x3	copy number gain	See cases [RCV000139812]	Chr20:364204..879317 [GRCh38] Chr20:344848..859960 [GRCh37] Chr20:292848..807960 [NCBI36] Chr20:20p13	uncertain significance
GRCh38/hg38 20p13-12.3(chr20:80093-6386012)x3	copy number gain	See cases [RCV000139597]	Chr20:80093..6386012 [GRCh38] Chr20:60734..6366659 [GRCh37] Chr20:8734..6314659 [NCBI36] Chr20:20p13-12.3	pathogenic
GRCh38/hg38 20p13(chr20:590507-679227)x3	copy number gain	See cases [RCV000141262]	Chr20:590507..679227 [GRCh38] Chr20:571151..659871 [GRCh37] Chr20:519151..607871 [NCBI36] Chr20:20p13	uncertain significance
GRCh38/hg38 20p13-12.3(chr20:84402-6159078)x3	copy number gain	See cases [RCV000141348]	Chr20:84402..6159078 [GRCh38] Chr20:65043..6139725 [GRCh37] Chr20:13043..6087725 [NCBI36] Chr20:20p13-12.3	pathogenic
GRCh38/hg38 20p13(chr20:209424-1852477)x3	copy number gain	See cases [RCV000140876]	Chr20:209424..1852477 [GRCh38] Chr20:190065..1833123 [GRCh37] Chr20:138065..1781123 [NCBI36] Chr20:20p13	uncertain significance
GRCh38/hg38 20p13-11.1(chr20:80927-26324843)x3	copy number gain	See cases [RCV000142017]	Chr20:80927..26324843 [GRCh38] Chr20:61568..26305479 [GRCh37] Chr20:9568..26253479 [NCBI36] Chr20:20p13-11.1	pathogenic
GRCh38/hg38 20p13-12.3(chr20:80927-5447679)x3	copy number gain	See cases [RCV000142285]	Chr20:80927..5447679 [GRCh38] Chr20:61568..5428325 [GRCh37] Chr20:9568..5376325 [NCBI36] Chr20:20p13-12.3	uncertain significance
GRCh38/hg38 20p13(chr20:80106-1246891)x1	copy number loss	See cases [RCV000142919]	Chr20:80106..1246891 [GRCh38] Chr20:60747..1227535 [GRCh37] Chr20:8747..1175535 [NCBI36] Chr20:20p13	likely pathogenic
GRCh38/hg38 20p13-11.23(chr20:80928-18688031)x3	copy number gain	See cases [RCV000143426]	Chr20:80928..18688031 [GRCh38] Chr20:61569..18668675 [GRCh37] Chr20:9569..18616675 [NCBI36] Chr20:20p13-11.23	pathogenic
GRCh38/hg38 20p13(chr20:80927-1806080)x1	copy number loss	See cases [RCV000143700]	Chr20:80927..1806080 [GRCh38] Chr20:61568..1786726 [GRCh37] Chr20:9568..1734726 [NCBI36] Chr20:20p13	likely pathogenic\|uncertain significance
GRCh38/hg38 20p13(chr20:89939-1852477)x1	copy number loss	See cases [RCV000148279]	Chr20:89939..1852477 [GRCh38] Chr20:70580..1833123 [GRCh37] Chr20:18580..1781123 [NCBI36] Chr20:20p13	pathogenic
GRCh37/hg19 20p13-12.3(chr20:121521-5564937)x3	copy number gain	See cases [RCV000239772]	Chr20:121521..5564937 [GRCh37] Chr20:20p13-12.3	pathogenic
GRCh37/hg19 20p13-11.1(chr20:80198-26075841)x3	copy number gain	See cases [RCV000239954]	Chr20:80198..26075841 [GRCh37] Chr20:20p13-11.1	pathogenic
GRCh37/hg19 20p13(chr20:61568-4914872)x3	copy number gain	See cases [RCV000446883]	Chr20:61568..4914872 [GRCh37] Chr20:20p13	pathogenic
GRCh37/hg19 20p13(chr20:61568-1823540)x1	copy number loss	See cases [RCV000446902]	Chr20:61568..1823540 [GRCh37] Chr20:20p13	pathogenic
GRCh37/hg19 20p13(chr20:121521-2073612)x1	copy number loss	See cases [RCV000446640]	Chr20:121521..2073612 [GRCh37] Chr20:20p13	pathogenic
GRCh37/hg19 20p13(chr20:652426-889990)x3	copy number gain	See cases [RCV000446160]	Chr20:652426..889990 [GRCh37] Chr20:20p13	uncertain significance
GRCh37/hg19 20p13(chr20:61568-806878)x1	copy number loss	See cases [RCV000447172]	Chr20:61568..806878 [GRCh37] Chr20:20p13	likely pathogenic
GRCh37/hg19 20p13(chr20:61568-1513319)x1	copy number loss	See cases [RCV000445920]	Chr20:61568..1513319 [GRCh37] Chr20:20p13	pathogenic
GRCh37/hg19 20p13(chr20:61568-4904599)x3	copy number gain	See cases [RCV000448397]	Chr20:61568..4904599 [GRCh37] Chr20:20p13	pathogenic
GRCh37/hg19 20p13-q11.21(chr20:80198-26208081)x3	copy number gain	not provided [RCV000487461]	Chr20:80198..26208081 [GRCh37] Chr20:20p13-q11.21	pathogenic
GRCh37/hg19 20p13-12.3(chr20:213423-5483406)x3	copy number gain	See cases [RCV000510531]	Chr20:213423..5483406 [GRCh37] Chr20:20p13-12.3	uncertain significance
GRCh37/hg19 20p13(chr20:381794-1268103)x3	copy number gain	See cases [RCV000510434]	Chr20:381794..1268103 [GRCh37] Chr20:20p13	uncertain significance
GRCh37/hg19 20p13(chr20:61568-1651420)x1	copy number loss	See cases [RCV000510423]	Chr20:61568..1651420 [GRCh37] Chr20:20p13	likely pathogenic
GRCh37/hg19 20p13(chr20:61568-2824960)x3	copy number gain	See cases [RCV000511991]	Chr20:61568..2824960 [GRCh37] Chr20:20p13	uncertain significance
GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3	copy number gain	See cases [RCV000510832]	Chr20:61569..62915555 [GRCh37] Chr20:20p13-q13.33	pathogenic
NM_033129.4(SCRT2):c.613C>G (p.Leu205Val)	single nucleotide variant	not specified [RCV004333866]	Chr20:663982 [GRCh38] Chr20:644626 [GRCh37] Chr20:20p13	likely benign
NM_033129.4(SCRT2):c.413C>G (p.Ala138Gly)	single nucleotide variant	not specified [RCV004312558]	Chr20:664182 [GRCh38] Chr20:644826 [GRCh37] Chr20:20p13	uncertain significance
GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)	copy number gain	See cases [RCV000512450]	Chr20:61569..62915555 [GRCh37] Chr20:20p13-q13.33	pathogenic
GRCh37/hg19 20p13-12.2(chr20:61568-10486106)x3	copy number gain	See cases [RCV000512556]	Chr20:61568..10486106 [GRCh37] Chr20:20p13-12.2	likely pathogenic
GRCh37/hg19 20p13(chr20:61568-2010334)x1	copy number loss	not provided [RCV000684132]	Chr20:61568..2010334 [GRCh37] Chr20:20p13	likely pathogenic
GRCh37/hg19 20p13-q13.33(chr20:63244-62948788)x3	copy number gain	not provided [RCV000741058]	Chr20:63244..62948788 [GRCh37] Chr20:20p13-q13.33	pathogenic
GRCh37/hg19 20p13-q13.33(chr20:63244-62961294)x3	copy number gain	not provided [RCV000741059]	Chr20:63244..62961294 [GRCh37] Chr20:20p13-q13.33	pathogenic
GRCh37/hg19 20p13-q13.33(chr20:63244-62912463)x3	copy number gain	not provided [RCV000741057]	Chr20:63244..62912463 [GRCh37] Chr20:20p13-q13.33	pathogenic
GRCh37/hg19 20p13(chr20:61568-1305971)x1	copy number loss	not provided [RCV001007067]	Chr20:61568..1305971 [GRCh37] Chr20:20p13	pathogenic
NC_000020.10:g.157772_706326dup	duplication	Neurodevelopmental disorder [RCV000787408]	Chr20:157772..706326 [GRCh37] Chr20:20p13	uncertain significance
GRCh37/hg19 20p13(chr20:288904-874280)x3	copy number gain	not provided [RCV000848132]	Chr20:288904..874280 [GRCh37] Chr20:20p13	uncertain significance
NM_033129.4(SCRT2):c.443A>C (p.Gln148Pro)	single nucleotide variant	not specified [RCV004295232]	Chr20:664152 [GRCh38] Chr20:644796 [GRCh37] Chr20:20p13	likely benign
GRCh37/hg19 20p13(chr20:61568-2269777)x1	copy number loss	not provided [RCV001007065]	Chr20:61568..2269777 [GRCh37] Chr20:20p13	pathogenic
GRCh37/hg19 20p13-11.1(chr20:61568-26305479)x3	copy number gain	not provided [RCV001007068]	Chr20:61568..26305479 [GRCh37] Chr20:20p13-11.1	pathogenic
NC_000020.11:g.(?_408719)_(765794_?)dup	duplication	Polyglucosan body myopathy type 1 [RCV001032626]	Chr20:389363..746438 [GRCh37] Chr20:20p13	uncertain significance
GRCh37/hg19 20p13(chr20:63244-813880)x1	copy number loss	See cases [RCV001194569]	Chr20:63244..813880 [GRCh37] Chr20:20p13	pathogenic
GRCh37/hg19 20p13(chr20:61568-677437)x1	copy number loss	not provided [RCV001258750]	Chr20:61568..677437 [GRCh37] Chr20:20p13	likely pathogenic
GRCh37/hg19 20p13(chr20:67778-974841)	copy number loss	Global developmental delay [RCV001352667]	Chr20:67778..974841 [GRCh37] Chr20:20p13	pathogenic
GRCh37/hg19 20p13(chr20:61568-806878)	copy number loss	not specified [RCV002052694]	Chr20:61568..806878 [GRCh37] Chr20:20p13	likely pathogenic
NC_000020.10:g.(?_389402)_(746418_?)dup	duplication	not provided [RCV002007714]	Chr20:389402..746418 [GRCh37] Chr20:20p13	uncertain significance
GRCh37/hg19 20p13(chr20:242496-742740)	copy number gain	not specified [RCV002052696]	Chr20:242496..742740 [GRCh37] Chr20:20p13	uncertain significance
GRCh37/hg19 20p13(chr20:61568-1823540)	copy number loss	not specified [RCV002052695]	Chr20:61568..1823540 [GRCh37] Chr20:20p13	pathogenic
NC_000020.10:g.(?_389402)_(746418_?)del	deletion	Brown-Vialetto-van Laere syndrome 1 [RCV001900457]\|not provided [RCV001877503]	Chr20:389402..746418 [GRCh37] Chr20:20p13	pathogenic\|no classifications from unflagged records
NM_033129.4(SCRT2):c.394T>G (p.Ser132Ala)	single nucleotide variant	not specified [RCV004312556]	Chr20:664201 [GRCh38] Chr20:644845 [GRCh37] Chr20:20p13	likely benign
NM_033129.4(SCRT2):c.409G>A (p.Gly137Ser)	single nucleotide variant	not specified [RCV004312557]	Chr20:664186 [GRCh38] Chr20:644830 [GRCh37] Chr20:20p13	uncertain significance
GRCh37/hg19 20p13(chr20:489033-898472)x3	copy number gain	not provided [RCV002279749]	Chr20:489033..898472 [GRCh37] Chr20:20p13	uncertain significance
GRCh38/hg38 20p13(chr20:453176-822262)x1	copy number loss	Stereotypic movement disorder [RCV002283352]	Chr20:453176..822262 [GRCh38] Chr20:20p13	pathogenic
GRCh37/hg19 20p13(chr20:384444-744450)x3	copy number gain	not provided [RCV002475006]	Chr20:384444..744450 [GRCh37] Chr20:20p13	uncertain significance
NM_033129.4(SCRT2):c.412G>C (p.Ala138Pro)	single nucleotide variant	not specified [RCV004218288]	Chr20:664183 [GRCh38] Chr20:644827 [GRCh37] Chr20:20p13	uncertain significance
NM_033129.4(SCRT2):c.308C>A (p.Thr103Asn)	single nucleotide variant	not specified [RCV004107942]	Chr20:664287 [GRCh38] Chr20:644931 [GRCh37] Chr20:20p13	uncertain significance
NM_033129.4(SCRT2):c.352T>G (p.Ser118Ala)	single nucleotide variant	not specified [RCV004091695]	Chr20:664243 [GRCh38] Chr20:644887 [GRCh37] Chr20:20p13	uncertain significance
NM_033129.4(SCRT2):c.395C>T (p.Ser132Leu)	single nucleotide variant	not specified [RCV004109892]	Chr20:664200 [GRCh38] Chr20:644844 [GRCh37] Chr20:20p13	uncertain significance
NM_033129.4(SCRT2):c.816G>C (p.Gln272His)	single nucleotide variant	not specified [RCV004091136]	Chr20:663779 [GRCh38] Chr20:644423 [GRCh37] Chr20:20p13	uncertain significance
NM_033129.4(SCRT2):c.35G>C (p.Gly12Ala)	single nucleotide variant	not specified [RCV004285133]	Chr20:675567 [GRCh38] Chr20:656211 [GRCh37] Chr20:20p13	uncertain significance
NM_033129.4(SCRT2):c.140C>T (p.Ala47Val)	single nucleotide variant	not specified [RCV004257295]	Chr20:664455 [GRCh38] Chr20:645099 [GRCh37] Chr20:20p13	uncertain significance
NM_033129.4(SCRT2):c.220C>T (p.Pro74Ser)	single nucleotide variant	not specified [RCV004287085]	Chr20:664375 [GRCh38] Chr20:645019 [GRCh37] Chr20:20p13	uncertain significance
NM_033129.4(SCRT2):c.98T>C (p.Val33Ala)	single nucleotide variant	not specified [RCV004257099]	Chr20:675504 [GRCh38] Chr20:656148 [GRCh37] Chr20:20p13	uncertain significance
GRCh38/hg38 20p13-11.21(chr20:87153-23635465)x3	copy number gain	Renal agenesis [RCV003327640]	Chr20:87153..23635465 [GRCh38] Chr20:20p13-11.21	pathogenic
NM_033129.4(SCRT2):c.62C>T (p.Pro21Leu)	single nucleotide variant	not specified [RCV004335285]	Chr20:675540 [GRCh38] Chr20:656184 [GRCh37] Chr20:20p13	uncertain significance
NM_033129.4(SCRT2):c.643G>T (p.Gly215Cys)	single nucleotide variant	not specified [RCV004360704]	Chr20:663952 [GRCh38] Chr20:644596 [GRCh37] Chr20:20p13	uncertain significance
GRCh37/hg19 20p13(chr20:527467-721341)x1	copy number loss	not provided [RCV003483355]	Chr20:527467..721341 [GRCh37] Chr20:20p13	uncertain significance
Single allele	deletion	not provided [RCV003448689]	Chr20:61001..1041262 [GRCh37] Chr20:20p13	pathogenic
GRCh37/hg19 20p13(chr20:438458-1083208)x3	copy number gain	not provided [RCV003485208]	Chr20:438458..1083208 [GRCh37] Chr20:20p13	uncertain significance
GRCh37/hg19 20p13(chr20:61569-1794919)x3	copy number gain	not provided [RCV003485206]	Chr20:61569..1794919 [GRCh37] Chr20:20p13	uncertain significance
GRCh37/hg19 20p13-12.2(chr20:61569-9542361)x3	copy number gain	not provided [RCV003485207]	Chr20:61569..9542361 [GRCh37] Chr20:20p13-12.2	pathogenic
Single allele	deletion	not provided [RCV003448677]	Chr20:61001..2316914 [GRCh37] Chr20:20p13	pathogenic
GRCh37/hg19 20p13-12.1(chr20:68351-16142323)x3	copy number gain	not provided [RCV003885494]	Chr20:68351..16142323 [GRCh37] Chr20:20p13-12.1	pathogenic
GRCh37/hg19 20p13-11.21(chr20:68351-23860313)x3	copy number gain	not provided [RCV003885495]	Chr20:68351..23860313 [GRCh37] Chr20:20p13-11.21	pathogenic
NM_033129.4(SCRT2):c.434C>A (p.Ala145Glu)	single nucleotide variant	not specified [RCV004455108]	Chr20:664161 [GRCh38] Chr20:644805 [GRCh37] Chr20:20p13	uncertain significance
NM_033129.4(SCRT2):c.35G>A (p.Gly12Glu)	single nucleotide variant	not specified [RCV004455107]	Chr20:675567 [GRCh38] Chr20:656211 [GRCh37] Chr20:20p13	uncertain significance
NM_033129.4(SCRT2):c.154C>T (p.Pro52Ser)	single nucleotide variant	not specified [RCV004658869]	Chr20:664441 [GRCh38] Chr20:645085 [GRCh37] Chr20:20p13	uncertain significance
NM_033129.4(SCRT2):c.158C>G (p.Pro53Arg)	single nucleotide variant	not specified [RCV004658870]	Chr20:664437 [GRCh38] Chr20:645081 [GRCh37] Chr20:20p13	uncertain significance
NM_033129.4(SCRT2):c.290G>A (p.Arg97Gln)	single nucleotide variant	not specified [RCV004455106]	Chr20:664305 [GRCh38] Chr20:644949 [GRCh37] Chr20:20p13	uncertain significance
NM_033129.4(SCRT2):c.895C>A (p.Pro299Thr)	single nucleotide variant	not specified [RCV004658867]	Chr20:663700 [GRCh38] Chr20:644344 [GRCh37] Chr20:20p13	uncertain significance
NM_033129.4(SCRT2):c.902C>A (p.Thr301Asn)	single nucleotide variant	not specified [RCV004666909]	Chr20:663693 [GRCh38] Chr20:644337 [GRCh37] Chr20:20p13	uncertain significance
NM_033129.4(SCRT2):c.786C>G (p.His262Gln)	single nucleotide variant	not specified [RCV004666910]	Chr20:663809 [GRCh38] Chr20:644453 [GRCh37] Chr20:20p13	uncertain significance
NM_033129.4(SCRT2):c.407G>C (p.Gly136Ala)	single nucleotide variant	not specified [RCV004658868]	Chr20:664188 [GRCh38] Chr20:644832 [GRCh37] Chr20:20p13	uncertain significance
NM_033129.4(SCRT2):c.841T>C (p.Ser281Pro)	single nucleotide variant	not specified [RCV004859108]	Chr20:663754 [GRCh38] Chr20:644398 [GRCh37] Chr20:20p13	uncertain significance
NM_033129.4(SCRT2):c.101T>G (p.Leu34Arg)	single nucleotide variant	not specified [RCV004859109]	Chr20:675501 [GRCh38] Chr20:656145 [GRCh37] Chr20:20p13	uncertain significance
NM_033129.4(SCRT2):c.208G>A (p.Glu70Lys)	single nucleotide variant	not specified [RCV004859110]	Chr20:664387 [GRCh38] Chr20:645031 [GRCh37] Chr20:20p13	uncertain significance
GRCh37/hg19 20p13(chr20:61569-1091477)x1	copy number loss	not provided [RCV004819294]	Chr20:61569..1091477 [GRCh37] Chr20:20p13	likely pathogenic
NM_033129.4(SCRT2):c.410G>A (p.Gly137Asp)	single nucleotide variant	not specified [RCV004859105]	Chr20:664185 [GRCh38] Chr20:644829 [GRCh37] Chr20:20p13	uncertain significance
NM_033129.4(SCRT2):c.281G>T (p.Arg94Leu)	single nucleotide variant	not specified [RCV004859106]	Chr20:664314 [GRCh38] Chr20:644958 [GRCh37] Chr20:20p13	uncertain significance
NM_033129.4(SCRT2):c.376G>A (p.Gly126Ser)	single nucleotide variant	not specified [RCV004859107]	Chr20:664219 [GRCh38] Chr20:644863 [GRCh37] Chr20:20p13	uncertain significance

Predicted Target Of

	Summary Value
Count of predictions:	1668
Count of miRNA genes:	772
Interacting mature miRNAs:	919
Transcripts:	ENST00000246104
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.

The following QTLs overlap with this region.

RGD ID	Symbol	Name	LOD	P Value	Trait	Sub Trait	Chr	Start	Stop	Species
597255823	GWAS1351897_H	heptachlor epoxide measurement QTL GWAS1351897 (human)		0.00001	environmental exposure measurement		20	669291	669292	Human
597334717	GWAS1430791_H	COVID-19 QTL GWAS1430791 (human)		0.000004	COVID-19		20	670459	670461	Human
597334898	GWAS1430972_H	COVID-19 QTL GWAS1430972 (human)		0.0000003	COVID-19		20	670459	670461	Human

D20S117

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	20	655,113 - 655,299	UniSTS	GRCh37
GRCh37	20	655,244 - 655,421	UniSTS	GRCh37
Build 36	20	603,113 - 603,299	RGD	NCBI36
Celera	20	749,945 - 750,131	RGD
Celera	20	750,076 - 750,253	UniSTS
Cytogenetic Map	20	p13	UniSTS
HuRef	20	606,550 - 606,727	UniSTS
HuRef	20	606,419 - 606,605	UniSTS
Marshfield Genetic Map	20	2.83	RGD
Genethon Genetic Map	20	2.9	UniSTS
TNG Radiation Hybrid Map	20	68.0	UniSTS
deCODE Assembly Map	20	2.9	UniSTS
Stanford-G3 RH Map	20	0.0	UniSTS
GeneMap99-GB4 RH Map	20	6.73	UniSTS
NCBI RH Map	20	4.2	UniSTS
GeneMap99-G3 RH Map	20	0.0	UniSTS

D20S105

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	20	652,887 - 653,137	UniSTS	GRCh37
Build 36	20	600,887 - 601,137	RGD	NCBI36
Celera	20	747,719 - 747,969	RGD
Cytogenetic Map	20	p13	UniSTS
HuRef	20	604,179 - 604,429	UniSTS
Marshfield Genetic Map	20	2.83	RGD
Marshfield Genetic Map	20	2.83	UniSTS
Genethon Genetic Map	20	2.9	UniSTS

SHGC-3386

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	20	653,006 - 653,130	UniSTS	GRCh37
Build 36	20	601,006 - 601,130	RGD	NCBI36
Celera	20	747,838 - 747,962	RGD
Cytogenetic Map	20	p13	UniSTS
HuRef	20	604,298 - 604,422	UniSTS

AL034529

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	20	651,838 - 651,990	UniSTS	GRCh37
Build 36	20	599,838 - 599,990	RGD	NCBI36
Celera	20	746,670 - 746,822	RGD
Cytogenetic Map	20	p13	UniSTS
HuRef	20	603,130 - 603,282	UniSTS

SHGC-86223

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	20	657,459 - 657,691	UniSTS	GRCh37
Build 36	20	605,459 - 605,691	RGD	NCBI36
Celera	20	752,291 - 752,523	RGD
Cytogenetic Map	20	p13	UniSTS
HuRef	20	608,765 - 608,997	UniSTS
TNG Radiation Hybrid Map	20	68.0	UniSTS

G60473

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	20	652,877 - 653,130	UniSTS	GRCh37
Build 36	20	600,877 - 601,130	RGD	NCBI36
Celera	20	747,709 - 747,962	RGD
Cytogenetic Map	20	p13	UniSTS
HuRef	20	604,169 - 604,422	UniSTS
TNG Radiation Hybrid Map	20	68.0	UniSTS
TNG Radiation Hybrid Map	4	28778.0	UniSTS

SHGC-105848

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	20	649,808 - 650,140	UniSTS	GRCh37
Build 36	20	597,808 - 598,140	RGD	NCBI36
Celera	20	744,640 - 744,972	RGD
Cytogenetic Map	20	p13	UniSTS
HuRef	20	601,100 - 601,432	UniSTS
TNG Radiation Hybrid Map	20	77.0	UniSTS

Z94655

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	20	654,334 - 654,487	UniSTS	GRCh37
Build 36	20	602,334 - 602,487	RGD	NCBI36
Celera	20	749,166 - 749,319	RGD
Cytogenetic Map	20	p13	UniSTS
HuRef	20	605,640 - 605,793	UniSTS

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

adipose tissue	alimentary part of gastrointestinal system	appendage	circulatory system	ectoderm	endocrine system	endoderm	exocrine system	hemolymphoid system	hepatobiliary system	integumental system	mesenchyme	mesoderm	musculoskeletal system	nervous system	renal system	reproductive system	respiratory system	sensory system	visual system
518	844	1001	817	3632	639	791	156	1030	94	966	2780	2732	15	3101	202	844	606	64	1


RefSeq Transcripts	NM_033129	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AL121758	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY129025	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471133	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068258	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000246104 ⟹ ENSP00000246104

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	20	661,596 - 675,802 (-)	Ensembl

RefSeq Acc Id:

NM_033129 ⟹ NP_149120

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	20	661,596 - 675,802 (-)	NCBI
GRCh37	20	642,240 - 656,823 (-)	RGD
Build 36	20	590,240 - 604,823 (-)	NCBI Archive
Celera	20	737,069 - 751,655 (-)	RGD
HuRef	20	593,564 - 608,129 (-)	RGD
CHM1_1	20	642,279 - 656,827 (-)	NCBI
T2T-CHM13v2.0	20	705,869 - 720,058 (-)	NCBI

Sequence:

show sequence

GCAGCTCCCGCGATCCCCTGTCTGCGCGCCGCCGCCGCCAAGCCCGAGCCCGAGCCGGGGCCGCCGCCACCGGTGCCGGCTCCGAGCGGCCTCCCGCGCTCCAGCCCGCTGGGAGCTGTCCAGTGCTG
AAAACCCGCGCGGACACAGCCGATCGCGCCCGGCCGGCCGCCTCCCCGCACCGAGCCCCGCGCCGGCCGCGCCATGCCGCGCTCCTTCCTGGTAAAGAAGATCAAAGGGGACGGCTTCCAGTGCAGCG
GGGTGCCGGCCCCCACCTACCACCCCTTGGAGACAGCCTACGTGCTGCCTGGCGCCCGGGGGCCTCCCGGGGACAACGGGTACGCCCCGCACCGCCTGCCCCCGAGCAGCTACGATGCGGACCAGAAG
CCGGGCCTGGAGCTGGCCCCGGCCGAGCCCGCGTACCCGCCGGCGGCGCCGGAGGAGTACAGCGACCCCGAAAGCCCGCAGTCGAGCCTGTCGGCGCGCTACTTCCGAGGGGAGGCGGCAGTGACCGA
CAGCTACTCCATGGACGCCTTCTTCATCTCGGACGGGCGCTCGCGGCGGCGGCGGGGCGGGGGCGGCGGGGACGCGGGGGGCTCGGGAGACGCGGGGGGCGCCGGGGGGCGCGCGGGGCGCGCGGGGG
CGCAGGCGGGCGGCGGGCACCGGCACGCGTGCGCCGAGTGCGGCAAGACCTACGCCACGTCGTCGAACCTGAGCCGCCACAAGCAGACGCACCGCAGCCTGGACAGCCAGCTGGCGCGCAAATGCCCG
ACGTGCGGCAAGGCCTACGTGTCCATGCCCGCGCTCGCCATGCACCTGCTCACGCACAACCTGCGCCACAAGTGCGGCGTCTGCGGCAAGGCCTTCTCGCGGCCCTGGCTGCTGCAGGGTCACATGCG
CTCGCACACCGGCGAAAAGCCGTTCGGCTGCGCGCACTGCGGCAAGGCCTTCGCCGACCGCTCCAACCTGCGCGCGCACATGCAGACGCACTCGGCCTTCAAGCACTACCGCTGCCGCCAGTGCGACA
AGAGCTTCGCGCTCAAGTCCTACCTCCACAAGCACTGCGAGGCGGCCTGCGCCAAGGCGGCCGAGCCACCCCCGCCGACCCCCGCCGGCCCGGCCAGCTGAGCCTTCCGCCTCGCCCTCGCGCCCGGA
ACTCGCTCTCCACGCGCCCCGGGCCCCCTACCTGCGCCCGCAGCGCCCTCGCCCAGCCCCGGCTGCGTTTCCCTGCCCATGACCCTCTCGTGGGGACCCCCGGCCCGGCCCGGAACTTTTCTCCCCAA
CCCCCAAACCCACGACTCACTTCCACACCGTCTTCCCCAGCGTCCCCCGACCCACTTCATCCTTTCCGGCCATCCCTCGGACCTTGACCCCCCTGTCCGCGCCTTCAAGGCTCCCAACTCAGGCACCA
GGTCCGCACCTCTCCCGCGCCCCAGAGCCGGAAATTTCTCCCTCCCAGACCCCGCGCTGCTCTTCTAACTTCTAGATCTTTTCTCTCGCTTCTCAGCTGAATCTCTCTGACCATTCCTCTACTGGAGC
CCCCAATGAAAGCCGCAAACCTATACCCTTGACGCCCATACCTGCCTCAGTTTCCCCATCCACACCTGGACGCAGGCCCTGCCGCCCTGAGACCACAGTCCAACCCCAGACCATCCCTCTGGCCTCTG
CTGAATCTCCCAGAGTGTGTCCATCTGGGGATCTAATCTTCACCCTTCTTGAAGTCTCCGATCTGTCCCTGATCCCATCCATGCTCAGGCCTTAGGTCTGGCCATTCACACACACACACACCCCCACA
CCCCACTCCCACACACAGTTCCTACTGTCTTCAGTCCATGGGGATCTCATCACCCACTCCCAGCCCCAGCTCCAGCTGCCCTCACCTCTCTAGCAGCTCTCACCCCTCTGAGTCTACCTAACCTGGAG
GGGGCTTGAGGGGCACTTCAGGGCCCTGCCCCCTAATGTAACCCCTCTCTCACCCCGGCACAACCTGGGCTTCCACAGTCTGGAGCTGCCCTACCCCCAGATTCTCTGAGCACTTTCCCCCATCCCCA
GGGCCACAGATCCCCTTCCTTACTTGTTGGGGGGAGGTCTGGAGCACCTCGCCAATGCCCTTCCCCCATCCGGCTGGGTCCTTCCAGTTATTTATTTGTGTATTTATTTATTTATCTATTTATTATTC
TATTTAATCTCTTGGCCTCACCCAGGGACCGTCTGGCTTCCCCAGCTGGACTGGGAGGTCAGGAAGCCAGGCAAGGAGAGGGACAGCACAGGCCACAGAGGGCTGCCCCCACCACACACACCCCCGCG
TCTCGGGAGAAACCCACCCTCTTCAGAGCCTGCACTCGCTAAGGAAGGGGACTCGAGAATGGGGGGGCAGCTTGCTGACCCTCAACTGGGGGGGTGAGGGAGCATCAGGAGGTCCAGGCGTGGGGCAG
GTCCCCACCTTCCTGAACCTTCCCCTGCCACTCCAGGCGGCCCGGAGAGAGGAGCCTCTTCGATTTGTTTCCTGTTTATTCTTCTTCCCGAGGGACCCCAGGTTCCAGGGACCGACTGAGCCCCGGAC
CCGCTGGGGCCTCTGGCCTGCTCCCCGGGAGGGGCGCTCTCTCCCGGCCATGTCTATGCAACTCTCCCGGACAGAGGGGCCGGGCTGCCAGCCACCCGCCCGTTGGCCGCCACTACCTCCTCCGCTGC
GCTTTTGCATGCCCGGGCGAGGACCGAAGCACACACCTCCACGCGCACGGGCCCTGGCCCCCTCCGCTTTAAGCACACGCCTCTGCCCCATTGCTCTGCAGCCAGCTTGGGGGCAGGAGTCCTGGACT
CTCAGATCCTCCTCTCCCCTCCTCTTAGCCACAAAAGAGGGGGGAGACTGGAGGCACCCCTGCAGCAGGGGCACTTCCCTAGGGCTCCAGAGGGGTGAATGGGCCTTTGCTCAGCTCCAGGCCCAGCG
GGAAGGGAGGCTGCAGGGATGGTGGGAGGGAGAGGGGTAGCAGAAGCAATTATGGAGGCGTTGACCCTGTAAATAGCAACTTCTGACAGCAATAATTTTCCATGCATGCTAAGCCTTTTGGCCATATT
TTGTATGAGCGCTTGGCGCTCCTCCTCCGTCCTATCCCAACTCACCCCCAAACCCCCATCCCTTCCCCACCTCCAGCAGTATTACTTGTAACGCAATTCAGGGATATTAAAGGGACTTTGGCCACTCA

hide sequence


Protein RefSeqs	NP_149120	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAM98768	(Get FASTA)	NCBI Sequence Viewer
	EAX10660	(Get FASTA)	NCBI Sequence Viewer
	EAX10661	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000246104
	ENSP00000246104.5
GenBank Protein	Q9NQ03	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:

NP_149120 ⟸ NM_033129

- UniProtKB:

Q9NQ03 (UniProtKB/Swiss-Prot)

- Sequence:

show sequence

MPRSFLVKKIKGDGFQCSGVPAPTYHPLETAYVLPGARGPPGDNGYAPHRLPPSSYDADQKPGLELAPAEPAYPPAAPEEYSDPESPQSSLSARYFRGEAAVTDSYSMDAFFISDGRSRRRRGGGGGD
AGGSGDAGGAGGRAGRAGAQAGGGHRHACAECGKTYATSSNLSRHKQTHRSLDSQLARKCPTCGKAYVSMPALAMHLLTHNLRHKCGVCGKAFSRPWLLQGHMRSHTGEKPFGCAHCGKAFADRSNLR
AHMQTHSAFKHYRCRQCDKSFALKSYLHKHCEAACAKAAEPPPPTPAGPAS

hide sequence

Ensembl Acc Id:

ENSP00000246104 ⟸ ENST00000246104

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q9NQ03-F1-model_v2	AlphaFold	Q9NQ03	1-307	view protein structure

RGD ID:

13206085

Promoter ID:

EPDNEW_H26623

Type:

initiation region

Name:

SCRT2_1

Description:

scratch family transcriptional repressor 2

SO ACC ID:

SO:0000170

Source:

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

Experiment Methods:

Single-end sequencing.; Paired-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	20	676,653 - 676,713	EPDNEW

Database	Acc Id	Source(s)
COSMIC	SCRT2	COSMIC
Ensembl Genes	ENSG00000215397	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000246104	ENTREZGENE
	ENST00000246104.7	UniProtKB/Swiss-Prot
Gene3D-CATH	Classic Zinc Finger	UniProtKB/Swiss-Prot
GTEx	ENSG00000215397	GTEx
HGNC ID	HGNC:15952	ENTREZGENE
Human Proteome Map	SCRT2	Human Proteome Map
InterPro	Snail/Krueppel_Znf	UniProtKB/Swiss-Prot
	Znf_C2H2_sf	UniProtKB/Swiss-Prot
	Znf_C2H2_type	UniProtKB/Swiss-Prot
KEGG Report	hsa:85508	UniProtKB/Swiss-Prot
NCBI Gene	85508	ENTREZGENE
PANTHER	TRANSCRIPTIONAL REPRESSOR SCRATCH 2	UniProtKB/Swiss-Prot
	ZINC FINGER PROTEIN	UniProtKB/Swiss-Prot
Pfam	zf-C2H2	UniProtKB/Swiss-Prot
PharmGKB	PA35016	PharmGKB
PROSITE	ZINC_FINGER_C2H2_1	UniProtKB/Swiss-Prot
	ZINC_FINGER_C2H2_2	UniProtKB/Swiss-Prot
SMART	ZnF_C2H2	UniProtKB/Swiss-Prot
Superfamily-SCOP	SSF57667	UniProtKB/Swiss-Prot
UniProt	Q9NQ03	ENTREZGENE, UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2016-05-10	SCRT2	scratch family transcriptional repressor 2		scratch family zinc finger 2	Symbol and/or name change	5135510	APPROVED
2013-10-22	SCRT2	scratch family zinc finger 2		scratch homolog 2, zinc finger protein (Drosophila)	Symbol and/or name change	5135510	APPROVED

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


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


Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
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Imported Disease Annotations - ClinVar