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Gene: Nsd1 (nuclear receptor binding SET domain protein 1) Chinchilla lanigera

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Symbol:

Nsd1

Name:

nuclear receptor binding SET domain protein 1

RGD ID:

8857905

Description:

ENCODES a protein that exhibits chromatin binding (ortholog); histone H3K36 methyltransferase activity (ortholog); histone H4K20 methyltransferase activity (ortholog); INVOLVED IN gastrulation with mouth forming second (ortholog); negative regulation of transcription by RNA polymerase II (ortholog); positive regulation of DNA-templated transcription (ortholog); PARTICIPATES IN histone modification pathway; ASSOCIATED WITH acute myeloid leukemia (ortholog); adenoid cystic carcinoma (ortholog); autistic disorder (ortholog); FOUND IN nucleus (ortholog)

Type:

protein-coding

RefSeq Status:

MODEL

Previously known as:

histone-lysine N-methyltransferase, H3 lysine-36 and H4 lysine-20 specific

RGD Orthologs

Alliance Orthologs

More Info

more info ...

Latest Assembly:

ChiLan1.0 - Chinchilla ChiLan1.0 Assembly

Position:

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0 Ensembl	NW_004955408	29,413,595 - 29,542,768 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955408	29,416,393 - 29,547,444 (+)	NCBI	ChiLan1.0	ChiLan1.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

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

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
Nsd1	Chinchilla	acute myeloid leukemia	severity	ISO	NSD1 (Homo sapiens)	9068941	DNA:translocations:multiple (human)	RGD	PMID:23630019 and REF_RGD_ID:9590149
Nsd1	Chinchilla	Gigantism		ISO	NSD1 (Homo sapiens)	9068941	DNA:missense mutation:cds:6605G>A(p.C2202Y)(human)	RGD	PMID:16222665 and REF_RGD_ID:11568154
Nsd1	Chinchilla	neuroblastoma	severity	ISO	NSD1 (Homo sapiens)	9068941	DNA:hypermethylation:promoter:CpG islands (human)	RGD	PMID:20018718 and REF_RGD_ID:9590155
Nsd1	Chinchilla	Skin Neoplasms		ISO	Nsd1 (Mus musculus)	9068941		RGD	PMID:22832494 and REF_RGD_ID:9590156

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
Nsd1	Chinchilla	acute myeloid leukemia		ISO	NSD1 (Homo sapiens)	8554872	ClinVar more ...	ClinVar	PMID:12464997 more ...
Nsd1	Chinchilla	autistic disorder		ISO	NSD1 (Homo sapiens)	8554872	ClinVar Annotator: match by term: Autistic disorder	ClinVar	PMID:12464997 more ...
Nsd1	Chinchilla	Beckwith-Wiedemann syndrome		ISO	NSD1 (Homo sapiens)	8554872	ClinVar Annotator: match by term: Beckwith-Wiedemann syndrome	ClinVar	PMID:12464997 more ...
Nsd1	Chinchilla	choroid plexus carcinoma		ISO	NSD1 (Homo sapiens)	8554872	ClinVar Annotator: match by term: Choroid plexus carcinoma	ClinVar	PMID:26822237
Nsd1	Chinchilla	Chromosome 5, Trisomy 5q		ISO	NSD1 (Homo sapiens)	8554872	ClinVar Annotator: match by term: 5q35 microduplication syndrome	ClinVar	PMID:31690835
Nsd1	Chinchilla	Ehlers-Danlos syndrome dermatosparaxis type		ISO	NSD1 (Homo sapiens)	8554872	ClinVar Annotator: match by term: Ehlers-Danlos syndrome and dermatosparaxis type	ClinVar	PMID:16770806 more ...
Nsd1	Chinchilla	Ehlers-Danlos syndrome spondylodysplastic type 2		ISO	NSD1 (Homo sapiens)	8554872	ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type	ClinVar	PMID:28492532
Nsd1	Chinchilla	genetic disease		ISO	NSD1 (Homo sapiens)	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar	PMID:11226167 more ...
Nsd1	Chinchilla	Hereditary Neoplastic Syndromes		ISO	NSD1 (Homo sapiens)	8554872	ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	ClinVar	PMID:25741868 and PMID:28492532
Nsd1	Chinchilla	hereditary spastic paraplegia 8		ISO	NSD1 (Homo sapiens)	8554872	ClinVar Annotator: match by term: Hereditary spastic paraplegia 8	ClinVar	PMID:25741868
Nsd1	Chinchilla	holoprosencephaly 2		ISO	NSD1 (Homo sapiens)	8554872	ClinVar Annotator: match by term: Holoprosencephaly 2	ClinVar	PMID:25741868 more ...
Nsd1	Chinchilla	Hydrops Fetalis		ISO	NSD1 (Homo sapiens)	8554872	ClinVar Annotator: match by term: Non-immune hydrops fetalis	ClinVar	PMID:25741868
Nsd1	Chinchilla	Hypertelorism		ISO	NSD1 (Homo sapiens)	8554872	ClinVar Annotator: match by term: Hypertelorism	ClinVar	PMID:12464997 more ...
Nsd1	Chinchilla	intellectual disability		ISO	NSD1 (Homo sapiens)	8554872	ClinVar more ...	ClinVar	PMID:25741868 and PMID:28492532
Nsd1	Chinchilla	Marfanoid Mental Retardation Syndrome, Autosomal		ISO	NSD1 (Homo sapiens)	8554872	ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability	ClinVar	PMID:25741868 more ...
Nsd1	Chinchilla	microcephaly		ISO	NSD1 (Homo sapiens)	8554872	ClinVar Annotator: match by term: Microcephaly	ClinVar	PMID:25741868
Nsd1	Chinchilla	Neurodevelopmental Disorders		ISO	NSD1 (Homo sapiens)	8554872	ClinVar Annotator: match by term: Neurodevelopmental disorder	ClinVar	PMID:16247291 more ...
Nsd1	Chinchilla	pre-eclampsia		ISO	NSD1 (Homo sapiens)	8554872	ClinVar Annotator: match by term: Preeclampsia	ClinVar	PMID:12464997 more ...
Nsd1	Chinchilla	Silver-Russell syndrome		ISO	NSD1 (Homo sapiens)	8554872	ClinVar Annotator: match by term: Russell-Silver syndrome	ClinVar	PMID:27172843
Nsd1	Chinchilla	Sotos syndrome		ISO	NSD1 (Homo sapiens)	8554872	ClinVar Annotator: match by term: Sotos syndrome	ClinVar	PMID:11896389 more ...
Nsd1	Chinchilla	Sotos syndrome 1		ISO	NSD1 (Homo sapiens)	8554872	ClinVar more ...	ClinVar	PMID:12464997 more ...
Nsd1	Chinchilla	Weaver syndrome		ISO	NSD1 (Homo sapiens)	8554872	ClinVar Annotator: match by term: Weaver syndrome	ClinVar	PMID:18414213 more ...

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
Nsd1	Chinchilla	adenoid cystic carcinoma		ISO	NSD1 (Homo sapiens)	9068941	CTD Direct Evidence: marker/mechanism	CTD	PMID:23685749

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
Nsd1	Chinchilla	Sotos syndrome 1		ISO	NSD1 (Homo sapiens)	7240710		OMIM

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)
Nsd1	Chinchilla	gastrulation with mouth forming second	acts_upstream_of_or_within	ISO	MGI:2667262	9068941	PMID:12805229	MGI	PMID:12805229
Nsd1	Chinchilla	negative regulation of transcription by RNA polymerase II	involved_in	ISO	Nsd1 (Mus musculus)	9068941	PMID:9628876	UniProt	PMID:9628876
Nsd1	Chinchilla	positive regulation of DNA-templated transcription	involved_in	ISO	NSD1 (Homo sapiens)	9068941	PMID:11509567	UniProt	PMID:11509567
Nsd1	Chinchilla	regulation of peptidyl-serine phosphorylation	acts_upstream_of_or_within	ISO	NSD1 (Homo sapiens)	9068941	PMID:20837538	MGI	PMID:20837538

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)
Nsd1	Chinchilla	nucleus	located_in	ISO	Nsd1 (Mus musculus)	9068941	PMID:18157086	MGI	PMID:18157086

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)
Nsd1	Chinchilla	chromatin binding	enables	ISO	Nsd1 (Mus musculus)	9068941	PMID:15522233	MGI	PMID:15522233
Nsd1	Chinchilla	histone H3K36 methyltransferase activity	enables	ISO	NSD1 (Homo sapiens)	9068941	PMID:20837538	MGI	PMID:20837538
Nsd1	Chinchilla	histone H3K36 methyltransferase activity	enables	ISO	Nsd1 (Mus musculus)	9068941	PMID:12805229	UniProt	PMID:12805229
Nsd1	Chinchilla	histone H3K36 methyltransferase activity	enables	ISO	NSD1 (Homo sapiens)	9068941	PMID:21196496	UniProt	PMID:21196496
Nsd1	Chinchilla	histone H4K20 methyltransferase activity	enables	ISO	Nsd1 (Mus musculus)	9068941	PMID:12805229	UniProt	PMID:12805229
Nsd1	Chinchilla	histone methyltransferase activity	enables	ISO	Nsd1 (Mus musculus)	9068941	PMID:12805229	MGI	PMID:12805229
Nsd1	Chinchilla	nuclear androgen receptor binding	enables	ISO	NSD1 (Homo sapiens)	9068941	PMID:11509567	UniProt	PMID:11509567
Nsd1	Chinchilla	nuclear estrogen receptor binding	enables	ISO	UniProtKB:P03372	9068941	PMID:9628876	UniProt	PMID:9628876
Nsd1	Chinchilla	nuclear retinoic acid receptor binding	enables	ISO	UniProtKB:P10276	9068941	PMID:9628876	UniProt	PMID:9628876
Nsd1	Chinchilla	nuclear retinoid X receptor binding	enables	ISO	UniProtKB:P28700	9068941	PMID:9628876	UniProt	PMID:9628876
Nsd1	Chinchilla	nuclear thyroid hormone receptor binding	enables	ISO	UniProtKB:P04625	9068941	PMID:9628876	UniProt	PMID:9628876
Nsd1	Chinchilla	protein binding	enables	ISO	UniProtKB:Q04206	9068941	PMID:20080798	IntAct	PMID:20080798
Nsd1	Chinchilla	protein binding	enables	ISO	PR:Q5SXI5	9068941	PMID:15169884	MGI	PMID:15169884
Nsd1	Chinchilla	protein binding	enables	ISO	UniProtKB:A8MQ03 more ...	9068941	PMID:32296183	IntAct	PMID:32296183
Nsd1	Chinchilla	protein binding	enables	ISO	UniProtKB:Q13283	9068941	PMID:39009827	IntAct	PMID:39009827
Nsd1	Chinchilla	protein binding	enables	ISO	UniProtKB:Q16778	9068941	PMID:30021884 and PMID:35271311	IntAct	PMID:30021884 and PMID:35271311
Nsd1	Chinchilla	RNA polymerase II cis-regulatory region sequence-specific DNA binding	enables	ISO	NSD1 (Homo sapiens)	9068941	PMID:20837538	MGI	PMID:20837538
Nsd1	Chinchilla	transcription coregulator activity	enables	ISO	NSD1 (Homo sapiens)	9068941	PMID:11509567	UniProt	PMID:11509567
Nsd1	Chinchilla	transcription coregulator activity	enables	ISO	Nsd1 (Mus musculus)	9068941	PMID:9628876	MGI	PMID:9628876
Nsd1	Chinchilla	transcription corepressor activity	enables	ISO	Nsd1 (Mus musculus)	9068941	PMID:9628876	UniProt	PMID:9628876
Nsd1	Chinchilla	zinc ion binding	enables	ISO	NSD1 (Homo sapiens)	9068941	PMID:21196496	UniProt	PMID:21196496

RGD Manual Annotations

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

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
Nsd1	Chinchilla	histone modification pathway		ISO	NSD1 (Homo sapiens)	9068941		RGD	PMID:23200123 and REF_RGD_ID:7242632

#	Reference Title	Reference Citation
1.	Transitive Annotation Pipeline	Automated assignment of GO, PW and RDO ISO annotations across species
2.	OMIM Disease Annotation Pipeline	OMIM Disease Annotation Pipeline

PMID:22301074	PMID:30032202

Nsd1
(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_004955408	29,413,595 - 29,542,768 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955408	29,416,393 - 29,547,444 (+)	NCBI	ChiLan1.0	ChiLan1.0

NSD1
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	5	177,131,798 - 177,300,213 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	5	177,131,830 - 177,300,213 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	5	176,558,799 - 176,727,214 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	5	176,493,532 - 176,655,369 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	5	176,494,690 - 176,655,367	NCBI
Celera	5	171,774,148 - 171,941,231 (-)	NCBI		Celera
Cytogenetic Map	5	q35.3	NCBI
HuRef	5	171,481,615 - 171,647,948 (+)	NCBI		HuRef
CHM1_1	5	175,992,834 - 176,160,257 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	5	177,675,008 - 177,843,448 (+)	NCBI		T2T-CHM13v2.0

Nsd1
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	13	55,357,595 - 55,466,138 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	13	55,357,595 - 55,466,138 (+)	Ensembl		GRCm39 Ensembl
GRCm38	13	55,209,782 - 55,318,325 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	13	55,209,782 - 55,318,325 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	13	55,311,143 - 55,419,686 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	13	55,243,517 - 55,324,503 (+)	NCBI		MGSCv36	mm8
Celera	13	56,265,599 - 56,373,905 (+)	NCBI		Celera
Cytogenetic Map	13	B1	NCBI
cM Map	13	29.8	NCBI

Nsd1
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	17	9,317,085 - 9,431,528 (-)	NCBI		GRCr8
mRatBN7.2	17	9,311,963 - 9,426,373 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	17	9,315,237 - 9,425,358 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	17	9,328,369 - 9,440,603 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	17	10,857,509 - 10,970,288 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	17	9,324,761 - 9,437,004 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	17	9,840,859 - 9,955,391 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	17	9,844,133 - 9,952,898 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	17	11,950,539 - 12,065,042 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	17	15,362,482 - 15,471,961 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	17	15,363,376 - 15,471,151 (-)	NCBI
Celera	17	9,393,607 - 9,502,492 (-)	NCBI		Celera
Cytogenetic Map	17	p14	NCBI

NSD1
(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	4	172,214,174 - 172,384,745 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	5	170,353,696 - 170,524,284 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	5	172,431,968 - 172,602,174 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	5	179,499,866 - 179,666,351 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	5	179,499,865 - 179,666,351 (+)	Ensembl	panpan1.1		panPan2

NSD1
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	4	36,058,351 - 36,214,254 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	4	36,063,134 - 36,210,999 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	4	36,025,606 - 36,179,354 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	4	36,424,511 - 36,576,907 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	4	36,429,281 - 36,578,335 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	4	36,249,611 - 36,403,905 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	4	36,435,795 - 36,591,251 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	4	36,945,351 - 37,099,849 (-)	NCBI		UU_Cfam_GSD_1.0

Nsd1
(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_024407213	122,401,170 - 122,552,286 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936597	1,425,974 - 1,572,715 (+)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936597	1,426,318 - 1,577,193 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

NSD1
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	2	80,654,379 - 80,809,059 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	2	80,649,882 - 80,810,934 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	2	82,120,312 - 82,218,958 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

NSD1
(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	23	79,140,148 - 79,309,579 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	23	79,141,114 - 79,304,820 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666075	10,326,178 - 10,497,901 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Nsd1
(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_004624733	12,786,347 - 12,927,980 (-)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624733	12,781,693 - 12,929,861 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 4p16.3-15.1(chr4:72555-28066309)x1	copy number loss	See cases [RCV000051642]	Chr4:72555..28066309 [GRCh38] Chr4:72447..28067931 [GRCh37] Chr4:62447..27677029 [NCBI36] Chr4:4p16.3-15.1	pathogenic
GRCh38/hg38 4p16.3-15.33(chr4:56878-14499760)x1	copy number loss	See cases [RCV000051614]	Chr4:56878..14499760 [GRCh38] Chr4:56772..14501384 [GRCh37] Chr4:46772..14110482 [NCBI36] Chr4:4p16.3-15.33	pathogenic
GRCh38/hg38 4p16.3-15.2(chr4:51519-26519788)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051752]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051752]\|See cases [RCV000051752]	Chr4:51519..26519788 [GRCh38] Chr4:51413..26521410 [GRCh37] Chr4:41413..26130508 [NCBI36] Chr4:4p16.3-15.2	pathogenic
GRCh38/hg38 4p16.3-15.1(chr4:72555-33130620)x3	copy number gain	See cases [RCV000051753]	Chr4:72555..33130620 [GRCh38] Chr4:72447..33132242 [GRCh37] Chr4:62447..32808637 [NCBI36] Chr4:4p16.3-15.1	pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:2231690-11197847)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051758]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051758]\|See cases [RCV000051758]	Chr4:2231690..11197847 [GRCh38] Chr4:2233417..11199471 [GRCh37] Chr4:2203215..10808569 [NCBI36] Chr4:4p16.3-16.1	pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:72555-10004195)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051672]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051672]\|See cases [RCV000051672]	Chr4:72555..10004195 [GRCh38] Chr4:72447..10005819 [GRCh37] Chr4:62447..9614917 [NCBI36] Chr4:4p16.3-16.1	pathogenic
GRCh38/hg38 4p16.3-15.2(chr4:85149-22450018)x3	copy number gain	See cases [RCV000051755]	Chr4:85149..22450018 [GRCh38] Chr4:85040..22451641 [GRCh37] Chr4:75040..22060739 [NCBI36] Chr4:4p16.3-15.2	pathogenic
GRCh38/hg38 4p16.3-15.32(chr4:85149-17486742)x1	copy number loss	See cases [RCV000051679]	Chr4:85149..17486742 [GRCh38] Chr4:85040..17488365 [GRCh37] Chr4:75040..17097463 [NCBI36] Chr4:4p16.3-15.32	pathogenic
GRCh38/hg38 4p16.3-14(chr4:85149-38700366)x3	copy number gain	See cases [RCV000051757]	Chr4:85149..38700366 [GRCh38] Chr4:85040..38701987 [GRCh37] Chr4:75040..38378382 [NCBI36] Chr4:4p16.3-14	pathogenic
GRCh38/hg38 4p16.3-15.33(chr4:72555-11610824)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051674]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051674]\|See cases [RCV000051674]	Chr4:72555..11610824 [GRCh38] Chr4:72447..11612448 [GRCh37] Chr4:62447..11221546 [NCBI36] Chr4:4p16.3-15.33	pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:51319-10250807)x3	copy number gain	See cases [RCV000051743]	Chr4:51319..10250807 [GRCh38] Chr4:51213..10252431 [GRCh37] Chr4:41213..9861529 [NCBI36] Chr4:4p16.3-16.1	pathogenic
NM_001014447.3(CPZ):c.550C>T (p.Arg184Cys)	single nucleotide variant	not specified [RCV004912823]	Chr4:8604029 [GRCh38] Chr4:8605756 [GRCh37] Chr4:8656656 [NCBI36] Chr4:4p16.1	uncertain significance\|not provided
NM_001014447.3(CPZ):c.751G>A (p.Glu251Lys)	single nucleotide variant	not specified [RCV004167146]	Chr4:8606030 [GRCh38] Chr4:8607757 [GRCh37] Chr4:8658657 [NCBI36] Chr4:4p16.1	uncertain significance\|not provided
CPZ:c.1767G>A	single nucleotide variant	Malignant melanoma [RCV000066560]	Chr4:8619425 [GRCh38] Chr4:8621152 [GRCh37] Chr4:8672052 [NCBI36] Chr4:4p16.1	not provided
GRCh38/hg38 4p16.3-16.1(chr4:78578-10335613)x1	copy number loss	See cases [RCV000135336]	Chr4:78578..10335613 [GRCh38] Chr4:78470..10337237 [GRCh37] Chr4:68470..9946335 [NCBI36] Chr4:4p16.3-16.1	pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:135972-9369341)x1	copy number loss	See cases [RCV000135436]	Chr4:135972..9369341 [GRCh38] Chr4:129753..9371067 [GRCh37] Chr4:119753..8980165 [NCBI36] Chr4:4p16.3-16.1	pathogenic
GRCh38/hg38 4p16.3-15.32(chr4:72555-15658035)x1	copy number loss	See cases [RCV000135532]	Chr4:72555..15658035 [GRCh38] Chr4:72447..15659658 [GRCh37] Chr4:62447..15268756 [NCBI36] Chr4:4p16.3-15.32	pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:37335-9369258)x1	copy number loss	See cases [RCV000135992]	Chr4:37335..9369258 [GRCh38] Chr4:37336..9370984 [GRCh37] Chr4:27336..8980082 [NCBI36] Chr4:4p16.3-16.1	pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:72555-10250666)x1	copy number loss	See cases [RCV000137036]	Chr4:72555..10250666 [GRCh38] Chr4:72447..10252290 [GRCh37] Chr4:62447..9861388 [NCBI36] Chr4:4p16.3-16.1	pathogenic\|uncertain significance
GRCh38/hg38 4p16.3-15.31(chr4:51519-17798196)x3	copy number gain	See cases [RCV000137071]	Chr4:51519..17798196 [GRCh38] Chr4:51413..17799819 [GRCh37] Chr4:41413..17408917 [NCBI36] Chr4:4p16.3-15.31	pathogenic
GRCh38/hg38 4p16.2-16.1(chr4:5455628-10640216)x1	copy number loss	See cases [RCV000053262]	Chr4:5455628..10640216 [GRCh38] Chr4:5457355..10641840 [GRCh37] Chr4:5508256..10250938 [NCBI36] Chr4:4p16.2-16.1	pathogenic
GRCh38/hg38 4p16.3-14(chr4:72555-39477144)x3	copy number gain	See cases [RCV000133677]	Chr4:72555..39477144 [GRCh38] Chr4:72447..39478764 [GRCh37] Chr4:62447..39155159 [NCBI36] Chr4:4p16.3-14	pathogenic
GRCh38/hg38 4p16.3-15.32(chr4:78578-15625573)x3	copy number gain	See cases [RCV000135349]	Chr4:78578..15625573 [GRCh38] Chr4:78470..15627196 [GRCh37] Chr4:68470..15236294 [NCBI36] Chr4:4p16.3-15.32	pathogenic
GRCh38/hg38 4p16.3-15.32(chr4:72555-17278013)x1	copy number loss	See cases [RCV000135657]	Chr4:72555..17278013 [GRCh38] Chr4:72447..17279636 [GRCh37] Chr4:62447..16888734 [NCBI36] Chr4:4p16.3-15.32	pathogenic
GRCh38/hg38 4p16.3-12(chr4:36424-47491595)x3	copy number gain	See cases [RCV000137261]	Chr4:36424..47491595 [GRCh38] Chr4:36424..47493612 [GRCh37] Chr4:26424..47188369 [NCBI36] Chr4:4p16.3-12	pathogenic
GRCh38/hg38 4p16.1(chr4:8414872-10011846)x3	copy number gain	See cases [RCV000137908]	Chr4:8414872..10011846 [GRCh38] Chr4:8416599..10013470 [GRCh37] Chr4:8467499..9622568 [NCBI36] Chr4:4p16.1	likely benign
GRCh38/hg38 4p16.3-15.31(chr4:72555-21022414)x3	copy number gain	See cases [RCV000138305]	Chr4:72555..21022414 [GRCh38] Chr4:72447..21024037 [GRCh37] Chr4:62447..20633135 [NCBI36] Chr4:4p16.3-15.31	pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:36424-9369341)x1	copy number loss	See cases [RCV000138227]	Chr4:36424..9369341 [GRCh38] Chr4:36424..9371067 [GRCh37] Chr4:26424..8980165 [NCBI36] Chr4:4p16.3-16.1	pathogenic\|uncertain significance
GRCh38/hg38 4p16.3-15.32(chr4:37335-15869056)x1	copy number loss	See cases [RCV000139551]	Chr4:37335..15869056 [GRCh38] Chr4:37336..15870679 [GRCh37] Chr4:27336..15479777 [NCBI36] Chr4:4p16.3-15.32	pathogenic
GRCh38/hg38 4p16.3-15.32(chr4:4426403-17460549)x1	copy number loss	See cases [RCV000141502]	Chr4:4426403..17460549 [GRCh38] Chr4:4428130..17462172 [GRCh37] Chr4:4479031..17071270 [NCBI36] Chr4:4p16.3-15.32	pathogenic
GRCh38/hg38 4p16.1(chr4:8606112-9556518)x3	copy number gain	See cases [RCV000142813]	Chr4:8606112..9556518 [GRCh38] Chr4:8607839..9558139 [GRCh37] Chr4:8658739..9167237 [NCBI36] Chr4:4p16.1	likely benign
GRCh38/hg38 4p16.3-16.1(chr4:68453-8730129)x1	copy number loss	See cases [RCV000143377]	Chr4:68453..8730129 [GRCh38] Chr4:68345..8731855 [GRCh37] Chr4:58345..8782755 [NCBI36] Chr4:4p16.3-16.1	pathogenic
GRCh37/hg19 4p16.3-15.31(chr4:44020-19796182)x1	copy number loss	See cases [RCV000203431]	Chr4:44020..19796182 [GRCh37] Chr4:4p16.3-15.31	pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:75742-8672411)	copy number loss	4p partial monosomy syndrome [RCV000767672]	Chr4:75742..8672411 [GRCh37] Chr4:4p16.3-16.1	pathogenic
GRCh37/hg19 4p16.3-15.1(chr4:71552-29006745)x1	copy number loss	See cases [RCV000240003]	Chr4:71552..29006745 [GRCh37] Chr4:4p16.3-15.1	pathogenic
GRCh37/hg19 4p16.1-15.31(chr4:6447048-20490737)x3	copy number gain	See cases [RCV000240007]	Chr4:6447048..20490737 [GRCh37] Chr4:4p16.1-15.31	pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:49450-8872474)x1	copy number loss	See cases [RCV000239427]	Chr4:49450..8872474 [GRCh37] Chr4:4p16.3-16.1	pathogenic
GRCh37/hg19 4p16.3-11(chr4:12440-49064044)x3	copy number gain	See cases [RCV000240562]	Chr4:12440..49064044 [GRCh37] Chr4:4p16.3-11	pathogenic
GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	copy number gain	not specified [RCV003986479]	Chr4:68345..49089361 [GRCh37] Chr4:4p16.3-11	pathogenic
GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	copy number gain	See cases [RCV002292704]	Chr4:68345..49089361 [GRCh37] Chr4:4p16.3-11	pathogenic
NC_000004.12:g.8398067_17505522inv	inversion	Dihydropteridine reductase deficiency [RCV000768549]	Chr4:8398067..17505522 [GRCh38] Chr4:4p16.1-15.32	pathogenic
GRCh37/hg19 4p16.3-15.33(chr4:68345-15197147)x1	copy number loss	See cases [RCV000446287]	Chr4:68345..15197147 [GRCh37] Chr4:4p16.3-15.33	pathogenic
GRCh37/hg19 4p16.3-11(chr4:68345-49093788)x3	copy number gain	See cases [RCV000446451]	Chr4:68345..49093788 [GRCh37] Chr4:4p16.3-11	pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	copy number gain	See cases [RCV000446653]	Chr4:12440..190904441 [GRCh37] Chr4:4p16.3-q35.2	pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:68345-8731855)x3	copy number gain	See cases [RCV000447633]	Chr4:68345..8731855 [GRCh37] Chr4:4p16.3-16.1	pathogenic
GRCh37/hg19 4p16.3-15.32(chr4:71552-15302739)x1	copy number loss	See cases [RCV000448933]	Chr4:71552..15302739 [GRCh37] Chr4:4p16.3-15.32	pathogenic
GRCh37/hg19 4p16.1(chr4:8199982-8731855)x3	copy number gain	See cases [RCV000512078]	Chr4:8199982..8731855 [GRCh37] Chr4:4p16.1	likely benign
GRCh37/hg19 4p16.3-16.1(chr4:68345-10336032)x1	copy number loss	See cases [RCV000512104]	Chr4:68345..10336032 [GRCh37] Chr4:4p16.3-16.1	pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	copy number gain	See cases [RCV000510453]	Chr4:68346..190957473 [GRCh37] Chr4:4p16.3-q35.2	pathogenic
GRCh37/hg19 4p16.3-15.32(chr4:68345-15973383)x1	copy number loss	See cases [RCV000510662]	Chr4:68345..15973383 [GRCh37] Chr4:4p16.3-15.32	pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:68345-8731855)x3	copy number gain	See cases [RCV000510565]	Chr4:68345..8731855 [GRCh37] Chr4:4p16.3-16.1	likely pathogenic
GRCh37/hg19 4p16.3-15.33(chr4:68345-13770107)x1	copy number loss	See cases [RCV000511351]	Chr4:68345..13770107 [GRCh37] Chr4:4p16.3-15.33	pathogenic
GRCh37/hg19 4p16.3-q13.1(chr4:68345-66440622)x3	copy number gain	See cases [RCV000511193]	Chr4:68345..66440622 [GRCh37] Chr4:4p16.3-q13.1	pathogenic
NM_001014447.3(CPZ):c.1219G>A (p.Asp407Asn)	single nucleotide variant	not specified [RCV004311309]	Chr4:8607417 [GRCh38] Chr4:8609144 [GRCh37] Chr4:4p16.1	uncertain significance
NM_001014447.3(CPZ):c.841A>T (p.Asn281Tyr)	single nucleotide variant	not specified [RCV004314227]	Chr4:8606120 [GRCh38] Chr4:8607847 [GRCh37] Chr4:4p16.1	uncertain significance
NM_001014447.3(CPZ):c.1277T>G (p.Met426Arg)	single nucleotide variant	not specified [RCV004314298]	Chr4:8612076 [GRCh38] Chr4:8613803 [GRCh37] Chr4:4p16.1	uncertain significance
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	copy number gain	See cases [RCV000512241]	Chr4:68346..190957473 [GRCh37] Chr4:4p16.3-q35.2	pathogenic
GRCh37/hg19 4p16.1(chr4:8530221-8609785)x1	copy number loss	not provided [RCV000682382]	Chr4:8530221..8609785 [GRCh37] Chr4:4p16.1	likely benign\|uncertain significance
GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	copy number gain	not provided [RCV000682363]	Chr4:68345..49089361 [GRCh37] Chr4:4p16.3-11	pathogenic
GRCh37/hg19 4p16.3-15.1(chr4:4165334-33324781)x1	copy number loss	not provided [RCV000682373]	Chr4:4165334..33324781 [GRCh37] Chr4:4p16.3-15.1	pathogenic
NM_001014447.3(CPZ):c.493C>T (p.Arg165Trp)	single nucleotide variant	Short stature [RCV000736116]	Chr4:8601494 [GRCh38] Chr4:8603221 [GRCh37] Chr4:4p16.1	likely pathogenic
NM_001014447.3(CPZ):c.1321G>T (p.Gly441Trp)	single nucleotide variant	Short stature [RCV000736117]\|not specified [RCV004907659]	Chr4:8612120 [GRCh38] Chr4:8613847 [GRCh37] Chr4:4p16.1	likely pathogenic\|uncertain significance
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190915650)x3	copy number gain	not provided [RCV000743155]	Chr4:49450..190915650 [GRCh37] Chr4:4p16.3-q35.2	pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:11525-191028879)x3	copy number gain	not provided [RCV000743147]	Chr4:11525..191028879 [GRCh37] Chr4:4p16.3-q35.2	pathogenic
GRCh37/hg19 4p16.3-11(chr4:1356924-49659859)x3	copy number gain	not provided [RCV000743201]	Chr4:1356924..49659859 [GRCh37] Chr4:4p16.3-11	pathogenic
NM_001014447.3(CPZ):c.746G>T (p.Gly249Val)	single nucleotide variant	not specified [RCV004295713]	Chr4:8606025 [GRCh38] Chr4:8607752 [GRCh37] Chr4:4p16.1	uncertain significance
NM_001014447.3(CPZ):c.1365C>A (p.Gly455=)	single nucleotide variant	not provided [RCV000923950]	Chr4:8614360 [GRCh38] Chr4:8616087 [GRCh37] Chr4:4p16.1	likely benign
NM_001014447.3(CPZ):c.1941C>G (p.Arg647=)	single nucleotide variant	CPZ-related disorder [RCV003960428]\|not provided [RCV000923951]	Chr4:8619599 [GRCh38] Chr4:8621326 [GRCh37] Chr4:4p16.1	likely benign
NM_001014447.3(CPZ):c.788A>G (p.Gln263Arg)	single nucleotide variant	CPZ-related disorder [RCV003940426]\|not provided [RCV000881005]	Chr4:8606067 [GRCh38] Chr4:8607794 [GRCh37] Chr4:4p16.1	benign
GRCh37/hg19 4p16.2-15.32(chr4:5914109-17264668)x1	copy number loss	not provided [RCV001005519]	Chr4:5914109..17264668 [GRCh37] Chr4:4p16.2-15.32	likely pathogenic
NC_000004.11:g.(?_8613754)_(8873340_?)del	deletion	not provided [RCV001032181]	Chr4:8613754..8873340 [GRCh37] Chr4:4p16.1	pathogenic
NM_001014447.3(CPZ):c.1885G>A (p.Gly629Arg)	single nucleotide variant	not provided [RCV000897496]	Chr4:8619543 [GRCh38] Chr4:8621270 [GRCh37] Chr4:4p16.1	likely benign
NM_001014447.3(CPZ):c.1842G>A (p.Thr614=)	single nucleotide variant	not provided [RCV000899952]\|not specified [RCV004907670]	Chr4:8619500 [GRCh38] Chr4:8621227 [GRCh37] Chr4:4p16.1	likely benign
GRCh37/hg19 4p16.1(chr4:7336953-8620214)x3	copy number gain	not provided [RCV000846952]	Chr4:7336953..8620214 [GRCh37] Chr4:4p16.1	uncertain significance
GRCh37/hg19 4p16.3-15.2(chr4:49450-24280482)x1	copy number loss	See cases [RCV001007422]	Chr4:49450..24280482 [GRCh37] Chr4:4p16.3-15.2	pathogenic
GRCh37/hg19 4p16.3-15.33(chr4:3374195-13468480)x1	copy number loss	not provided [RCV000845896]	Chr4:3374195..13468480 [GRCh37] Chr4:4p16.3-15.33	pathogenic
NM_001014447.3(CPZ):c.1068+9C>T	single nucleotide variant	not provided [RCV001666355]	Chr4:8606907 [GRCh38] Chr4:8606907..8606908 [GRCh38] Chr4:8608634 [GRCh37] Chr4:8608634..8608635 [GRCh37] Chr4:4p16.1	benign
NM_001014447.3(CPZ):c.1566G>T (p.Arg522=)	single nucleotide variant	CPZ-related disorder [RCV003916165]\|not provided [RCV000964847]	Chr4:8618491 [GRCh38] Chr4:8620218 [GRCh37] Chr4:4p16.1	benign
NM_001014447.3(CPZ):c.1604-8G>T	single nucleotide variant	CPZ-related disorder [RCV003916166]\|not provided [RCV000964848]	Chr4:8619254 [GRCh38] Chr4:8620981 [GRCh37] Chr4:4p16.1	benign
NM_001014447.3(CPZ):c.1854G>A (p.Pro618=)	single nucleotide variant	CPZ-related disorder [RCV003978297]\|not provided [RCV000956180]	Chr4:8619512 [GRCh38] Chr4:8621239 [GRCh37] Chr4:4p16.1	benign
NM_001014447.3(CPZ):c.675C>G (p.Ile225Met)	single nucleotide variant	not provided [RCV000956178]	Chr4:8604154 [GRCh38] Chr4:8605881 [GRCh37] Chr4:4p16.1	benign
NM_001014447.3(CPZ):c.750C>T (p.Asn250=)	single nucleotide variant	CPZ-related disorder [RCV003983303]\|not provided [RCV000956179]	Chr4:8606029 [GRCh38] Chr4:8607756 [GRCh37] Chr4:4p16.1	benign
GRCh37/hg19 4p16.3-16.1(chr4:68345-9768141)x1	copy number loss	not provided [RCV001005511]	Chr4:68345..9768141 [GRCh37] Chr4:4p16.3-16.1	pathogenic
GRCh37/hg19 4p16.3-15.2(chr4:68345-27423424)x3	copy number gain	not provided [RCV001005510]	Chr4:68345..27423424 [GRCh37] Chr4:4p16.3-15.2	pathogenic
GRCh37/hg19 4p16.3-11(chr4:49450-49620898)x3	copy number gain	See cases [RCV001194594]	Chr4:49450..49620898 [GRCh37] Chr4:4p16.3-11	pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:68345-10312798)x1	copy number loss	not provided [RCV001005514]	Chr4:68345..10312798 [GRCh37] Chr4:4p16.3-16.1	pathogenic
GRCh37/hg19 4p16.3-15.1(chr4:69671-29702595)x3	copy number gain	not provided [RCV001537928]	Chr4:69671..29702595 [GRCh37] Chr4:4p16.3-15.1	pathogenic
GRCh37/hg19 4p16.3-15.31(chr4:68598-18912995)x1	copy number loss	not provided [RCV001537927]	Chr4:68598..18912995 [GRCh37] Chr4:4p16.3-15.31	pathogenic
GRCh37/hg19 4p16.1(chr4:8367623-8609785)x3	copy number gain	not provided [RCV001834141]	Chr4:8367623..8609785 [GRCh37] Chr4:4p16.1	uncertain significance
NM_001014447.3(CPZ):c.949C>T (p.Gln317Ter)	single nucleotide variant	not provided [RCV001811927]	Chr4:8606779 [GRCh38] Chr4:8608506 [GRCh37] Chr4:4p16.1	uncertain significance
GRCh37/hg19 4p16.3-15.31(chr4:68345-20587167)x1	copy number loss	not provided [RCV001829146]	Chr4:68345..20587167 [GRCh37] Chr4:4p16.3-15.31	pathogenic
GRCh37/hg19 4p16.1(chr4:7792998-8731855)x3	copy number gain	not provided [RCV001832971]	Chr4:7792998..8731855 [GRCh37] Chr4:4p16.1	uncertain significance
GRCh37/hg19 4p16.1(chr4:8265830-8731855)x3	copy number gain	not provided [RCV001833064]	Chr4:8265830..8731855 [GRCh37] Chr4:4p16.1	uncertain significance
GRCh37/hg19 4p16.3-15.31(chr4:68345-20964575)x1	copy number loss	See cases [RCV002286359]	Chr4:68345..20964575 [GRCh37] Chr4:4p16.3-15.31	pathogenic
GRCh37/hg19 4p16.3-12(chr4:114784-47569569)x3	copy number gain	FETAL DEMISE [RCV002282978]	Chr4:114784..47569569 [GRCh37] Chr4:4p16.3-12	pathogenic
NM_001014447.3(CPZ):c.1319G>C (p.Arg440Thr)	single nucleotide variant	not specified [RCV004076134]	Chr4:8612118 [GRCh38] Chr4:8613845 [GRCh37] Chr4:4p16.1	uncertain significance
GRCh37/hg19 4p16.1(chr4:8234755-8731855)x3	copy number gain	not provided [RCV002474653]	Chr4:8234755..8731855 [GRCh37] Chr4:4p16.1	uncertain significance
GRCh37/hg19 4p16.3-15.33(chr4:1-12785001)x1	copy number loss	not provided [RCV002473938]	Chr4:1..12785001 [GRCh37] Chr4:4p16.3-15.33	pathogenic
GRCh37/hg19 4p16.3-15.33(chr4:68346-12369983)x1	copy number loss	not provided [RCV002473869]	Chr4:68346..12369983 [GRCh37] Chr4:4p16.3-15.33	pathogenic
NM_001014447.3(CPZ):c.1543G>A (p.Gly515Ser)	single nucleotide variant	not specified [RCV004187129]	Chr4:8618468 [GRCh38] Chr4:8620195 [GRCh37] Chr4:4p16.1	uncertain significance
NM_001014447.3(CPZ):c.851G>A (p.Arg284His)	single nucleotide variant	not specified [RCV004239790]	Chr4:8606130 [GRCh38] Chr4:8607857 [GRCh37] Chr4:4p16.1	uncertain significance
NM_001014447.3(CPZ):c.1544G>A (p.Gly515Asp)	single nucleotide variant	not specified [RCV004199390]	Chr4:8618469 [GRCh38] Chr4:8620196 [GRCh37] Chr4:4p16.1	uncertain significance
NM_001014447.3(CPZ):c.1808C>T (p.Pro603Leu)	single nucleotide variant	not specified [RCV004233205]	Chr4:8619466 [GRCh38] Chr4:8621193 [GRCh37] Chr4:4p16.1	uncertain significance
NM_001014447.3(CPZ):c.1586G>A (p.Arg529His)	single nucleotide variant	not specified [RCV004202723]	Chr4:8618511 [GRCh38] Chr4:8620238 [GRCh37] Chr4:4p16.1	uncertain significance
NM_001014447.3(CPZ):c.317C>T (p.Ala106Val)	single nucleotide variant	not specified [RCV004235546]	Chr4:8601318 [GRCh38] Chr4:8603045 [GRCh37] Chr4:4p16.1	uncertain significance
NM_001014447.3(CPZ):c.1304G>T (p.Gly435Val)	single nucleotide variant	not specified [RCV004122520]	Chr4:8612103 [GRCh38] Chr4:8613830 [GRCh37] Chr4:4p16.1	uncertain significance
NM_001014447.3(CPZ):c.1199A>T (p.Lys400Met)	single nucleotide variant	not specified [RCV004200758]	Chr4:8607397 [GRCh38] Chr4:8609124 [GRCh37] Chr4:4p16.1	uncertain significance
NM_001014447.3(CPZ):c.1813G>C (p.Gly605Arg)	single nucleotide variant	not specified [RCV004097403]	Chr4:8619471 [GRCh38] Chr4:8621198 [GRCh37] Chr4:4p16.1	uncertain significance
NM_001014447.3(CPZ):c.580G>A (p.Val194Met)	single nucleotide variant	not specified [RCV004161859]	Chr4:8604059 [GRCh38] Chr4:8605786 [GRCh37] Chr4:4p16.1	uncertain significance
NM_001014447.3(CPZ):c.1675G>A (p.Ala559Thr)	single nucleotide variant	not specified [RCV004162462]	Chr4:8619333 [GRCh38] Chr4:8621060 [GRCh37] Chr4:4p16.1	likely benign
NM_001014447.3(CPZ):c.1474_1476del (p.Lys492del)	deletion	not provided [RCV002866806]	Chr4:8614469..8614471 [GRCh38] Chr4:8616196..8616198 [GRCh37] Chr4:4p16.1	uncertain significance
NM_001014447.3(CPZ):c.823C>T (p.Arg275Cys)	single nucleotide variant	not specified [RCV004182309]	Chr4:8606102 [GRCh38] Chr4:8607829 [GRCh37] Chr4:4p16.1	uncertain significance
NM_001014447.3(CPZ):c.1439C>A (p.Pro480His)	single nucleotide variant	not specified [RCV004172137]	Chr4:8614434 [GRCh38] Chr4:8616161 [GRCh37] Chr4:4p16.1	uncertain significance
NM_001014447.3(CPZ):c.1767G>C (p.Lys589Asn)	single nucleotide variant	not specified [RCV004164583]	Chr4:8619425 [GRCh38] Chr4:8621152 [GRCh37] Chr4:4p16.1	uncertain significance
NM_001014447.3(CPZ):c.571G>A (p.Ala191Thr)	single nucleotide variant	not specified [RCV004240495]	Chr4:8604050 [GRCh38] Chr4:8605777 [GRCh37] Chr4:4p16.1	uncertain significance
NM_001014447.3(CPZ):c.107C>T (p.Pro36Leu)	single nucleotide variant	not specified [RCV004195564]	Chr4:8599471 [GRCh38] Chr4:8601198 [GRCh37] Chr4:4p16.1	uncertain significance
NM_001014447.3(CPZ):c.1738A>G (p.Ile580Val)	single nucleotide variant	not specified [RCV004073073]	Chr4:8619396 [GRCh38] Chr4:8621123 [GRCh37] Chr4:4p16.1	uncertain significance
NM_001014447.3(CPZ):c.551G>A (p.Arg184His)	single nucleotide variant	not specified [RCV004195565]	Chr4:8604030 [GRCh38] Chr4:8605757 [GRCh37] Chr4:4p16.1	uncertain significance
NM_001014447.3(CPZ):c.652G>A (p.Asp218Asn)	single nucleotide variant	not specified [RCV004112375]	Chr4:8604131 [GRCh38] Chr4:8605858 [GRCh37] Chr4:4p16.1	uncertain significance
NM_001014447.3(CPZ):c.202C>T (p.Arg68Trp)	single nucleotide variant	not specified [RCV004241589]	Chr4:8601203 [GRCh38] Chr4:8602930 [GRCh37] Chr4:4p16.1	uncertain significance
NM_001014447.3(CPZ):c.1679A>G (p.Lys560Arg)	single nucleotide variant	not specified [RCV004206857]	Chr4:8619337 [GRCh38] Chr4:8621064 [GRCh37] Chr4:4p16.1	likely benign
NM_001014447.3(CPZ):c.1286C>T (p.Ser429Leu)	single nucleotide variant	not specified [RCV004231412]	Chr4:8612085 [GRCh38] Chr4:8613812 [GRCh37] Chr4:4p16.1	uncertain significance
NM_001014447.3(CPZ):c.1438C>A (p.Pro480Thr)	single nucleotide variant	not specified [RCV004099386]	Chr4:8614433 [GRCh38] Chr4:8616160 [GRCh37] Chr4:4p16.1	uncertain significance
NM_001014447.3(CPZ):c.1804G>A (p.Asp602Asn)	single nucleotide variant	not specified [RCV004599426]	Chr4:8619462 [GRCh38] Chr4:8621189 [GRCh37] Chr4:4p16.1	uncertain significance
NM_001014447.3(CPZ):c.1858C>T (p.Arg620Trp)	single nucleotide variant	not specified [RCV004212586]	Chr4:8619516 [GRCh38] Chr4:8621243 [GRCh37] Chr4:4p16.1	uncertain significance
NM_001014447.3(CPZ):c.1520A>G (p.Lys507Arg)	single nucleotide variant	not specified [RCV004160878]	Chr4:8618445 [GRCh38] Chr4:8620172 [GRCh37] Chr4:4p16.1	uncertain significance
NM_001014447.3(CPZ):c.1585C>T (p.Arg529Cys)	single nucleotide variant	not specified [RCV004078125]	Chr4:8618510 [GRCh38] Chr4:8620237 [GRCh37] Chr4:4p16.1	uncertain significance
NM_001014447.3(CPZ):c.172C>A (p.His58Asn)	single nucleotide variant	not specified [RCV004223108]	Chr4:8601173 [GRCh38] Chr4:8602900 [GRCh37] Chr4:4p16.1	uncertain significance
NM_001014447.3(CPZ):c.43G>A (p.Val15Ile)	single nucleotide variant	not specified [RCV004256274]	Chr4:8592876 [GRCh38] Chr4:8594603 [GRCh37] Chr4:4p16.1	uncertain significance
NM_001014447.3(CPZ):c.1859G>A (p.Arg620Gln)	single nucleotide variant	not specified [RCV004248185]	Chr4:8619517 [GRCh38] Chr4:8621244 [GRCh37] Chr4:4p16.1	uncertain significance
NM_001014447.3(CPZ):c.1834G>C (p.Glu612Gln)	single nucleotide variant	not specified [RCV004256640]	Chr4:8619492 [GRCh38] Chr4:8621219 [GRCh37] Chr4:4p16.1	uncertain significance
NM_001014447.3(CPZ):c.1062G>T (p.Trp354Cys)	single nucleotide variant	not specified [RCV004263405]	Chr4:8606892 [GRCh38] Chr4:8608619 [GRCh37] Chr4:4p16.1	uncertain significance
NM_001014447.3(CPZ):c.183C>A (p.Phe61Leu)	single nucleotide variant	not specified [RCV004279342]	Chr4:8601184 [GRCh38] Chr4:8602911 [GRCh37] Chr4:4p16.1	uncertain significance
NM_001014447.3(CPZ):c.1670G>C (p.Gly557Ala)	single nucleotide variant	not specified [RCV004266849]	Chr4:8619328 [GRCh38] Chr4:8621055 [GRCh37] Chr4:4p16.1	uncertain significance
NM_001014447.3(CPZ):c.1874C>A (p.Pro625His)	single nucleotide variant	not specified [RCV004271388]	Chr4:8619532 [GRCh38] Chr4:8621259 [GRCh37] Chr4:4p16.1	uncertain significance
NM_001014447.3(CPZ):c.1853C>T (p.Pro618Leu)	single nucleotide variant	not specified [RCV004248577]	Chr4:8619511 [GRCh38] Chr4:8621238 [GRCh37] Chr4:4p16.1	uncertain significance
NM_001014447.3(CPZ):c.1877C>T (p.Ser626Leu)	single nucleotide variant	not specified [RCV004253302]	Chr4:8619535 [GRCh38] Chr4:8621262 [GRCh37] Chr4:4p16.1	uncertain significance
NM_001014447.3(CPZ):c.288C>G (p.Asp96Glu)	single nucleotide variant	not specified [RCV004278233]	Chr4:8601289 [GRCh38] Chr4:8603016 [GRCh37] Chr4:4p16.1	uncertain significance
NM_001014447.3(CPZ):c.1114C>T (p.Pro372Ser)	single nucleotide variant	not specified [RCV004275488]	Chr4:8607312 [GRCh38] Chr4:8609039 [GRCh37] Chr4:4p16.1	uncertain significance
GRCh37/hg19 4p16.3-15.1(chr4:68345-34512694)	copy number gain	4p16.3 microduplication syndrome [RCV003319592]	Chr4:68345..34512694 [GRCh37] Chr4:4p16.3-15.1	pathogenic
GRCh38/hg38 4p16.3-11(chr4:1-49062177)x3	copy number gain	Neurodevelopmental disorder [RCV003327611]	Chr4:1..49062177 [GRCh38] Chr4:4p16.3-11	pathogenic
GRCh38/hg38 4p16.3-13(chr4:2904667-42963232)x3	copy number gain	Neurodevelopmental disorder [RCV003327612]	Chr4:2904667..42963232 [GRCh38] Chr4:4p16.3-13	pathogenic
NM_001014447.3(CPZ):c.1843G>A (p.Glu615Lys)	single nucleotide variant	not specified [RCV004335386]	Chr4:8619501 [GRCh38] Chr4:8621228 [GRCh37] Chr4:4p16.1	uncertain significance
NM_001014447.3(CPZ):c.412A>G (p.Met138Val)	single nucleotide variant	not specified [RCV004353934]	Chr4:8601413 [GRCh38] Chr4:8603140 [GRCh37] Chr4:4p16.1	uncertain significance
NM_001014447.3(CPZ):c.643C>T (p.Arg215Cys)	single nucleotide variant	not specified [RCV004345930]	Chr4:8604122 [GRCh38] Chr4:8605849 [GRCh37] Chr4:4p16.1	uncertain significance
GRCh37/hg19 4p16.1(chr4:7810354-8620214)x3	copy number gain	not provided [RCV003484170]	Chr4:7810354..8620214 [GRCh37] Chr4:4p16.1	uncertain significance
GRCh37/hg19 4p16.1(chr4:8521116-8609785)x1	copy number loss	not provided [RCV003485414]	Chr4:8521116..8609785 [GRCh37] Chr4:4p16.1	uncertain significance
GRCh37/hg19 4p16.1(chr4:8379061-8620214)x1	copy number loss	not provided [RCV003485411]	Chr4:8379061..8620214 [GRCh37] Chr4:4p16.1	uncertain significance
GRCh37/hg19 4p16.1(chr4:8453874-8609785)x1	copy number loss	not provided [RCV003485412]	Chr4:8453874..8609785 [GRCh37] Chr4:4p16.1	uncertain significance
NM_001014447.3(CPZ):c.36C>T (p.Val12=)	single nucleotide variant	not provided [RCV003439255]	Chr4:8592869 [GRCh38] Chr4:8594596 [GRCh37] Chr4:4p16.1	likely benign
NM_001014447.3(CPZ):c.1674C>G (p.Tyr558Ter)	single nucleotide variant	not provided [RCV003490631]	Chr4:8619332 [GRCh38] Chr4:8621059 [GRCh37] Chr4:4p16.1	uncertain significance
NM_001014447.3(CPZ):c.906+1G>A	single nucleotide variant	not provided [RCV003490632]	Chr4:8606186 [GRCh38] Chr4:8607913 [GRCh37] Chr4:4p16.1	uncertain significance
GRCh37/hg19 4p16.3-15.33(chr4:68345-14083766)x1	copy number loss	not specified [RCV003986510]	Chr4:68345..14083766 [GRCh37] Chr4:4p16.3-15.33	pathogenic
GRCh37/hg19 4p16.3-15.31(chr4:68345-19103550)x1	copy number loss	not specified [RCV003986512]	Chr4:68345..19103550 [GRCh37] Chr4:4p16.3-15.31	pathogenic
NM_001014447.3(CPZ):c.1287G>A (p.Ser429=)	single nucleotide variant	CPZ-related disorder [RCV003966746]\|not provided [RCV003885961]	Chr4:8612086 [GRCh38] Chr4:8613813 [GRCh37] Chr4:4p16.1	likely benign
NM_001014447.3(CPZ):c.1704C>T (p.Pro568=)	single nucleotide variant	CPZ-related disorder [RCV003941529]	Chr4:8619362 [GRCh38] Chr4:8621089 [GRCh37] Chr4:4p16.1	benign
NM_001014447.3(CPZ):c.1723G>C (p.Gly575Arg)	single nucleotide variant	CPZ-related disorder [RCV003892284]	Chr4:8619381 [GRCh38] Chr4:8621108 [GRCh37] Chr4:4p16.1	uncertain significance
GRCh37/hg19 4p16.3-15.31(chr4:68345-21143236)x1	copy number loss	not specified [RCV003986488]	Chr4:68345..21143236 [GRCh37] Chr4:4p16.3-15.31	pathogenic
NM_001014447.3(CPZ):c.344G>A (p.Arg115His)	single nucleotide variant	not specified [RCV004374786]	Chr4:8601345 [GRCh38] Chr4:8603072 [GRCh37] Chr4:4p16.1	uncertain significance
NM_001014447.3(CPZ):c.206C>T (p.Ser69Leu)	single nucleotide variant	not specified [RCV004374784]	Chr4:8601207 [GRCh38] Chr4:8602934 [GRCh37] Chr4:4p16.1	uncertain significance
NM_001014447.3(CPZ):c.1897T>C (p.Trp633Arg)	single nucleotide variant	not specified [RCV004374783]	Chr4:8619555 [GRCh38] Chr4:8621282 [GRCh37] Chr4:4p16.1	uncertain significance
NM_001014447.3(CPZ):c.1760G>C (p.Gly587Ala)	single nucleotide variant	not specified [RCV004374780]	Chr4:8619418 [GRCh38] Chr4:8621145 [GRCh37] Chr4:4p16.1	uncertain significance
NM_001014447.3(CPZ):c.1633C>G (p.Pro545Ala)	single nucleotide variant	not specified [RCV004374777]	Chr4:8619291 [GRCh38] Chr4:8621018 [GRCh37] Chr4:4p16.1	uncertain significance
NM_001014447.3(CPZ):c.1295G>A (p.Arg432Lys)	single nucleotide variant	not specified [RCV004374774]	Chr4:8612094 [GRCh38] Chr4:8613821 [GRCh37] Chr4:4p16.1	uncertain significance
NM_001014447.3(CPZ):c.1278G>A (p.Met426Ile)	single nucleotide variant	not specified [RCV004374772]	Chr4:8612077 [GRCh38] Chr4:8613804 [GRCh37] Chr4:4p16.1	uncertain significance
NM_001014447.3(CPZ):c.1787G>A (p.Arg596Gln)	single nucleotide variant	CPZ-related disorder [RCV003919776]	Chr4:8619445 [GRCh38] Chr4:8621172 [GRCh37] Chr4:4p16.1	benign
NM_001014447.3(CPZ):c.1106A>G (p.Gln369Arg)	single nucleotide variant	not specified [RCV004374764]	Chr4:8607304 [GRCh38] Chr4:8609031 [GRCh37] Chr4:4p16.1	likely benign
NM_001014447.3(CPZ):c.1141G>C (p.Gly381Arg)	single nucleotide variant	not specified [RCV004374766]	Chr4:8607339 [GRCh38] Chr4:8609066 [GRCh37] Chr4:4p16.1	uncertain significance
NM_001014447.3(CPZ):c.1165C>G (p.Pro389Ala)	single nucleotide variant	not specified [RCV004374767]	Chr4:8607363 [GRCh38] Chr4:8609090 [GRCh37] Chr4:4p16.1	uncertain significance
NM_001014447.3(CPZ):c.1171G>C (p.Asp391His)	single nucleotide variant	not specified [RCV004374768]	Chr4:8607369 [GRCh38] Chr4:8609096 [GRCh37] Chr4:4p16.1	uncertain significance
NM_001014447.3(CPZ):c.764G>A (p.Arg255Gln)	single nucleotide variant	not specified [RCV004374794]	Chr4:8606043 [GRCh38] Chr4:8607770 [GRCh37] Chr4:4p16.1	uncertain significance
NM_001014447.3(CPZ):c.832C>T (p.Arg278Cys)	single nucleotide variant	not specified [RCV004374797]	Chr4:8606111 [GRCh38] Chr4:8607838 [GRCh37] Chr4:4p16.1	uncertain significance
NM_001014447.3(CPZ):c.878C>T (p.Pro293Leu)	single nucleotide variant	not specified [RCV004374799]	Chr4:8606157 [GRCh38] Chr4:8607884 [GRCh37] Chr4:4p16.1	uncertain significance
NM_001014447.3(CPZ):c.887A>G (p.Tyr296Cys)	single nucleotide variant	not specified [RCV004374800]	Chr4:8606166 [GRCh38] Chr4:8607893 [GRCh37] Chr4:4p16.1	uncertain significance
NM_001014447.3(CPZ):c.68A>G (p.Glu23Gly)	single nucleotide variant	not specified [RCV004374793]	Chr4:8592901 [GRCh38] Chr4:8594628 [GRCh37] Chr4:4p16.1	uncertain significance
NM_001014447.3(CPZ):c.618C>G (p.His206Gln)	single nucleotide variant	not specified [RCV004374792]	Chr4:8604097 [GRCh38] Chr4:8605824 [GRCh37] Chr4:4p16.1	uncertain significance
NM_001014447.3(CPZ):c.1364-40_1364-6del	deletion	CPZ-related disorder [RCV003903829]	Chr4:8614306..8614340 [GRCh38] Chr4:8616033..8616067 [GRCh37] Chr4:4p16.1	benign
NM_001014447.3(CPZ):c.462C>T (p.Asp154=)	single nucleotide variant	CPZ-related disorder [RCV003903972]	Chr4:8601463 [GRCh38] Chr4:8603190 [GRCh37] Chr4:4p16.1	benign
NM_001014447.3(CPZ):c.349C>A (p.Pro117Thr)	single nucleotide variant	not specified [RCV004374787]	Chr4:8601350 [GRCh38] Chr4:8603077 [GRCh37] Chr4:4p16.1	uncertain significance
NM_001014447.3(CPZ):c.1502C>T (p.Thr501Met)	single nucleotide variant	CPZ-related disorder [RCV003954959]	Chr4:8614497 [GRCh38] Chr4:8616224 [GRCh37] Chr4:4p16.1	benign
NM_001014447.3(CPZ):c.612C>T (p.Cys204=)	single nucleotide variant	CPZ-related disorder [RCV003981857]	Chr4:8604091 [GRCh38] Chr4:8605818 [GRCh37] Chr4:4p16.1	benign
NM_001014447.3(CPZ):c.1182G>T (p.Lys394Asn)	single nucleotide variant	not specified [RCV004374769]	Chr4:8607380 [GRCh38] Chr4:8609107 [GRCh37] Chr4:4p16.1	uncertain significance
NM_001014447.3(CPZ):c.427T>C (p.Phe143Leu)	single nucleotide variant	not specified [RCV004374789]	Chr4:8601428 [GRCh38] Chr4:8603155 [GRCh37] Chr4:4p16.1	uncertain significance
NM_001014447.3(CPZ):c.1663G>C (p.Ala555Pro)	single nucleotide variant	not specified [RCV004374778]	Chr4:8619321 [GRCh38] Chr4:8621048 [GRCh37] Chr4:4p16.1	uncertain significance
NM_001014447.3(CPZ):c.12G>C (p.Pro4=)	single nucleotide variant	CPZ-related disorder [RCV003979094]	Chr4:8592845 [GRCh38] Chr4:8594572 [GRCh37] Chr4:4p16.1	benign
NM_001014447.3(CPZ):c.1062G>A (p.Trp354Ter)	single nucleotide variant	CPZ-related disorder [RCV003901497]	Chr4:8606892 [GRCh38] Chr4:8608619 [GRCh37] Chr4:4p16.1	likely benign
NM_001014447.3(CPZ):c.379G>A (p.Glu127Lys)	single nucleotide variant	not specified [RCV004374788]	Chr4:8601380 [GRCh38] Chr4:8603107 [GRCh37] Chr4:4p16.1	uncertain significance
NM_001014447.3(CPZ):c.814G>T (p.Gly272Cys)	single nucleotide variant	not specified [RCV004374796]	Chr4:8606093 [GRCh38] Chr4:8607820 [GRCh37] Chr4:4p16.1	uncertain significance
NM_001014447.3(CPZ):c.1260C>T (p.Asp420=)	single nucleotide variant	CPZ-related disorder [RCV003979561]	Chr4:8612059 [GRCh38] Chr4:8613786 [GRCh37] Chr4:4p16.1	benign
NM_001014447.3(CPZ):c.1099T>C (p.Trp367Arg)	single nucleotide variant	not specified [RCV004374763]	Chr4:8607297 [GRCh38] Chr4:8609024 [GRCh37] Chr4:4p16.1	uncertain significance
NM_001014447.3(CPZ):c.1117T>C (p.Phe373Leu)	single nucleotide variant	not specified [RCV004374765]	Chr4:8607315 [GRCh38] Chr4:8609042 [GRCh37] Chr4:4p16.1	uncertain significance
NM_001014447.3(CPZ):c.851G>T (p.Arg284Leu)	single nucleotide variant	not specified [RCV004374798]	Chr4:8606130 [GRCh38] Chr4:8607857 [GRCh37] Chr4:4p16.1	uncertain significance
NM_001014447.3(CPZ):c.956T>C (p.Leu319Pro)	single nucleotide variant	not specified [RCV004374801]	Chr4:8606786 [GRCh38] Chr4:8608513 [GRCh37] Chr4:4p16.1	uncertain significance
NM_001014447.3(CPZ):c.654C>A (p.Asp218Glu)	single nucleotide variant	CPZ-related disorder [RCV003919514]	Chr4:8604133 [GRCh38] Chr4:8605860 [GRCh37] Chr4:4p16.1	benign
NM_001014447.3(CPZ):c.1782G>A (p.Gly594=)	single nucleotide variant	CPZ-related disorder [RCV003919735]	Chr4:8619440 [GRCh38] Chr4:8621167 [GRCh37] Chr4:4p16.1	benign
NM_001014447.3(CPZ):c.*4C>T	single nucleotide variant	CPZ-related disorder [RCV003954945]	Chr4:8619621 [GRCh38] Chr4:8621348 [GRCh37] Chr4:4p16.1	benign
NM_001014447.3(CPZ):c.*7C>G	single nucleotide variant	CPZ-related disorder [RCV003906920]	Chr4:8619624 [GRCh38] Chr4:8621351 [GRCh37] Chr4:4p16.1	likely benign
NM_001014447.3(CPZ):c.56G>C (p.Arg19Pro)	single nucleotide variant	CPZ-related disorder [RCV003964296]	Chr4:8592889 [GRCh38] Chr4:8594616 [GRCh37] Chr4:4p16.1	benign
NM_001014447.3(CPZ):c.1709G>A (p.Arg570Gln)	single nucleotide variant	CPZ-related disorder [RCV003922145]	Chr4:8619367 [GRCh38] Chr4:8621094 [GRCh37] Chr4:4p16.1	likely benign
NM_001014447.3(CPZ):c.1884C>T (p.Asp628=)	single nucleotide variant	CPZ-related disorder [RCV003917217]	Chr4:8619542 [GRCh38] Chr4:8621269 [GRCh37] Chr4:4p16.1	benign
NM_001014447.3(CPZ):c.1438C>G (p.Pro480Ala)	single nucleotide variant	CPZ-related disorder [RCV003932053]	Chr4:8614433 [GRCh38] Chr4:8616160 [GRCh37] Chr4:4p16.1	benign
NM_001014447.3(CPZ):c.850C>T (p.Arg284Cys)	single nucleotide variant	CPZ-related disorder [RCV003959222]	Chr4:8606129 [GRCh38] Chr4:8607856 [GRCh37] Chr4:4p16.1	likely benign
NM_001014447.3(CPZ):c.1504-3C>T	single nucleotide variant	CPZ-related disorder [RCV003976415]	Chr4:8618426 [GRCh38] Chr4:8620153 [GRCh37] Chr4:4p16.1	benign
NM_001014447.3(CPZ):c.613G>A (p.Ala205Thr)	single nucleotide variant	CPZ-related disorder [RCV003959467]	Chr4:8604092 [GRCh38] Chr4:8605819 [GRCh37] Chr4:4p16.1	uncertain significance
NM_001014447.3(CPZ):c.903C>G (p.Ala301=)	single nucleotide variant	CPZ-related disorder [RCV003911709]	Chr4:8606182 [GRCh38] Chr4:8607909 [GRCh37] Chr4:4p16.1	benign
NM_001014447.3(CPZ):c.231C>T (p.Ser77=)	single nucleotide variant	CPZ-related disorder [RCV003942006]	Chr4:8601232 [GRCh38] Chr4:8602959 [GRCh37] Chr4:4p16.1	benign
NM_001014447.3(CPZ):c.377G>A (p.Arg126Gln)	single nucleotide variant	CPZ-related disorder [RCV003924674]	Chr4:8601378 [GRCh38] Chr4:8603105 [GRCh37] Chr4:4p16.1	benign
NM_001014447.3(CPZ):c.1236G>T (p.Lys412Asn)	single nucleotide variant	CPZ-related disorder [RCV003914434]	Chr4:8612035 [GRCh38] Chr4:8613762 [GRCh37] Chr4:4p16.1	benign
NM_001014447.3(CPZ):c.1363+6G>T	single nucleotide variant	CPZ-related disorder [RCV003972152]	Chr4:8612168 [GRCh38] Chr4:8613895 [GRCh37] Chr4:4p16.1	benign
NM_001014447.3(CPZ):c.366C>T (p.Cys122=)	single nucleotide variant	CPZ-related disorder [RCV003942229]	Chr4:8601367 [GRCh38] Chr4:8603094 [GRCh37] Chr4:4p16.1	likely benign
NM_001014447.3(CPZ):c.514G>A (p.Glu172Lys)	single nucleotide variant	not specified [RCV004374790]	Chr4:8603993 [GRCh38] Chr4:8605720 [GRCh37] Chr4:4p16.1	uncertain significance
NM_001014447.3(CPZ):c.1767G>T (p.Lys589Asn)	single nucleotide variant	not specified [RCV004374781]	Chr4:8619425 [GRCh38] Chr4:8621152 [GRCh37] Chr4:4p16.1	uncertain significance
NM_001014447.3(CPZ):c.1511G>A (p.Arg504Gln)	single nucleotide variant	CPZ-related disorder [RCV003914365]	Chr4:8618436 [GRCh38] Chr4:8620163 [GRCh37] Chr4:4p16.1	benign
NM_001014447.3(CPZ):c.-10C>T	single nucleotide variant	CPZ-related disorder [RCV003916782]	Chr4:8592824 [GRCh38] Chr4:8594551 [GRCh37] Chr4:4p16.1	likely benign
NM_001014447.3(CPZ):c.17C>T (p.Pro6Leu)	single nucleotide variant	CPZ-related disorder [RCV003974640]	Chr4:8592850 [GRCh38] Chr4:8594577 [GRCh37] Chr4:4p16.1	benign
NM_001014447.3(CPZ):c.1674C>T (p.Tyr558=)	single nucleotide variant	CPZ-related disorder [RCV003904204]	Chr4:8619332 [GRCh38] Chr4:8621059 [GRCh37] Chr4:4p16.1	likely benign
NM_001014447.3(CPZ):c.654C>T (p.Asp218=)	single nucleotide variant	CPZ-related disorder [RCV003976526]	Chr4:8604133 [GRCh38] Chr4:8605860 [GRCh37] Chr4:4p16.1	benign
NM_001014447.3(CPZ):c.1432T>C (p.Phe478Leu)	single nucleotide variant	not specified [RCV004611159]	Chr4:8614427 [GRCh38] Chr4:8616154 [GRCh37] Chr4:4p16.1	uncertain significance
NM_001014447.3(CPZ):c.584G>C (p.Arg195Pro)	single nucleotide variant	not specified [RCV004611164]	Chr4:8604063 [GRCh38] Chr4:8605790 [GRCh37] Chr4:4p16.1	uncertain significance
NM_001014447.3(CPZ):c.855C>G (p.Ile285Met)	single nucleotide variant	not specified [RCV004611169]	Chr4:8606134 [GRCh38] Chr4:8607861 [GRCh37] Chr4:4p16.1	uncertain significance
NM_001014447.3(CPZ):c.1865G>A (p.Arg622His)	single nucleotide variant	not specified [RCV004611157]	Chr4:8619523 [GRCh38] Chr4:8621250 [GRCh37] Chr4:4p16.1	uncertain significance
NM_001014447.3(CPZ):c.1940G>A (p.Arg647His)	single nucleotide variant	not specified [RCV004611155]	Chr4:8619598 [GRCh38] Chr4:8621325 [GRCh37] Chr4:4p16.1	uncertain significance
NM_001014447.3(CPZ):c.22C>A (p.Leu8Met)	single nucleotide variant	not specified [RCV004611163]	Chr4:8592855 [GRCh38] Chr4:8594582 [GRCh37] Chr4:4p16.1	uncertain significance
NM_001014447.3(CPZ):c.1726C>T (p.Arg576Cys)	single nucleotide variant	not specified [RCV004611160]	Chr4:8619384 [GRCh38] Chr4:8621111 [GRCh37] Chr4:4p16.1	uncertain significance
NM_001014447.3(CPZ):c.1096A>G (p.Lys366Glu)	single nucleotide variant	not specified [RCV004611170]	Chr4:8607294 [GRCh38] Chr4:8609021 [GRCh37] Chr4:4p16.1	uncertain significance
NM_001014447.3(CPZ):c.477C>G (p.Asp159Glu)	single nucleotide variant	not specified [RCV004611171]	Chr4:8601478 [GRCh38] Chr4:8603205 [GRCh37] Chr4:4p16.1	uncertain significance
NM_001014447.3(CPZ):c.933C>G (p.Ser311Arg)	single nucleotide variant	not specified [RCV004611158]	Chr4:8606763 [GRCh38] Chr4:8608490 [GRCh37] Chr4:4p16.1	uncertain significance
NM_001014447.3(CPZ):c.1347G>C (p.Trp449Cys)	single nucleotide variant	not specified [RCV004611162]	Chr4:8612146 [GRCh38] Chr4:8613873 [GRCh37] Chr4:4p16.1	uncertain significance
NM_001014447.3(CPZ):c.203G>A (p.Arg68Gln)	single nucleotide variant	not specified [RCV004611166]	Chr4:8601204 [GRCh38] Chr4:8602931 [GRCh37] Chr4:4p16.1	uncertain significance
NM_001014447.3(CPZ):c.1754G>T (p.Gly585Val)	single nucleotide variant	not specified [RCV004611172]	Chr4:8619412 [GRCh38] Chr4:8621139 [GRCh37] Chr4:4p16.1	uncertain significance
NM_001014447.3(CPZ):c.81C>A (p.Asn27Lys)	single nucleotide variant	not specified [RCV004611165]	Chr4:8592914 [GRCh38] Chr4:8594641 [GRCh37] Chr4:4p16.1	uncertain significance
NM_001014447.3(CPZ):c.259C>A (p.Gln87Lys)	single nucleotide variant	not specified [RCV004611168]	Chr4:8601260 [GRCh38] Chr4:8602987 [GRCh37] Chr4:4p16.1	uncertain significance
NM_001014447.3(CPZ):c.1015C>T (p.Arg339Cys)	single nucleotide variant	not specified [RCV004611161]	Chr4:8606845 [GRCh38] Chr4:8608572 [GRCh37] Chr4:4p16.1	uncertain significance
NM_001014447.3(CPZ):c.1805A>G (p.Asp602Gly)	single nucleotide variant	not specified [RCV004912841]	Chr4:8619463 [GRCh38] Chr4:8621190 [GRCh37] Chr4:4p16.1	uncertain significance
NM_001014447.3(CPZ):c.811C>A (p.Leu271Ile)	single nucleotide variant	not specified [RCV004912842]	Chr4:8606090 [GRCh38] Chr4:8607817 [GRCh37] Chr4:4p16.1	uncertain significance
NM_001014447.3(CPZ):c.1021G>A (p.Ala341Thr)	single nucleotide variant	not specified [RCV004912846]	Chr4:8606851 [GRCh38] Chr4:8608578 [GRCh37] Chr4:4p16.1	uncertain significance
NM_001014447.3(CPZ):c.1335C>A (p.Asn445Lys)	single nucleotide variant	not specified [RCV004912850]	Chr4:8612134 [GRCh38] Chr4:8613861 [GRCh37] Chr4:4p16.1	uncertain significance
GRCh37/hg19 4p16.3-15.32(chr4:68346-16744084)x3	copy number gain	not provided [RCV004819301]	Chr4:68346..16744084 [GRCh37] Chr4:4p16.3-15.32	pathogenic
NM_001014447.3(CPZ):c.986C>A (p.Thr329Lys)	single nucleotide variant	not specified [RCV004912832]	Chr4:8606816 [GRCh38] Chr4:8608543 [GRCh37] Chr4:4p16.1	uncertain significance
NM_001014447.3(CPZ):c.1670G>A (p.Gly557Asp)	single nucleotide variant	not specified [RCV004912822]	Chr4:8619328 [GRCh38] Chr4:8621055 [GRCh37] Chr4:4p16.1	uncertain significance
NM_001014447.3(CPZ):c.1013C>T (p.Thr338Ile)	single nucleotide variant	not specified [RCV004912829]	Chr4:8606843 [GRCh38] Chr4:8608570 [GRCh37] Chr4:4p16.1	uncertain significance
NM_001014447.3(CPZ):c.163G>T (p.Ala55Ser)	single nucleotide variant	not specified [RCV004912830]	Chr4:8601164 [GRCh38] Chr4:8602891 [GRCh37] Chr4:4p16.1	uncertain significance
NM_001014447.3(CPZ):c.896C>T (p.Ala299Val)	single nucleotide variant	not specified [RCV004912836]	Chr4:8606175 [GRCh38] Chr4:8607902 [GRCh37] Chr4:4p16.1	uncertain significance
NM_001014447.3(CPZ):c.331G>A (p.Gly111Ser)	single nucleotide variant	not specified [RCV004912839]	Chr4:8601332 [GRCh38] Chr4:8603059 [GRCh37] Chr4:4p16.1	uncertain significance
NM_001014447.3(CPZ):c.561C>G (p.His187Gln)	single nucleotide variant	not specified [RCV004912848]	Chr4:8604040 [GRCh38] Chr4:8605767 [GRCh37] Chr4:4p16.1	uncertain significance
NM_001014447.3(CPZ):c.341T>C (p.Val114Ala)	single nucleotide variant	not specified [RCV004912851]	Chr4:8601342 [GRCh38] Chr4:8603069 [GRCh37] Chr4:4p16.1	uncertain significance
GRCh37/hg19 4p16.1-15.33(chr4:7518112-12949656)x3	copy number gain	not provided [RCV004819473]	Chr4:7518112..12949656 [GRCh37] Chr4:4p16.1-15.33	uncertain significance
NM_001014447.3(CPZ):c.982C>A (p.Leu328Met)	single nucleotide variant	not specified [RCV004912831]	Chr4:8606812 [GRCh38] Chr4:8608539 [GRCh37] Chr4:4p16.1	uncertain significance
NM_001014447.3(CPZ):c.451A>G (p.Thr151Ala)	single nucleotide variant	not specified [RCV004912826]	Chr4:8601452 [GRCh38] Chr4:8603179 [GRCh37] Chr4:4p16.1	likely benign
NM_001014447.3(CPZ):c.1912T>C (p.Phe638Leu)	single nucleotide variant	not specified [RCV004912824]	Chr4:8619570 [GRCh38] Chr4:8621297 [GRCh37] Chr4:4p16.1	uncertain significance
NM_001014447.3(CPZ):c.1063G>T (p.Gly355Cys)	single nucleotide variant	not specified [RCV004912833]	Chr4:8606893 [GRCh38] Chr4:8608620 [GRCh37] Chr4:4p16.1	uncertain significance
NM_001014447.3(CPZ):c.676G>A (p.Glu226Lys)	single nucleotide variant	not specified [RCV004912834]	Chr4:8604155 [GRCh38] Chr4:8605882 [GRCh37] Chr4:4p16.1	uncertain significance
NM_001014447.3(CPZ):c.701A>G (p.His234Arg)	single nucleotide variant	not specified [RCV004912837]	Chr4:8604180 [GRCh38] Chr4:8605907 [GRCh37] Chr4:4p16.1	uncertain significance
NM_001014447.3(CPZ):c.1777C>A (p.His593Asn)	single nucleotide variant	not specified [RCV004912838]	Chr4:8619435 [GRCh38] Chr4:8621162 [GRCh37] Chr4:4p16.1	uncertain significance
NM_001014447.3(CPZ):c.746G>C (p.Gly249Ala)	single nucleotide variant	not specified [RCV004912847]	Chr4:8606025 [GRCh38] Chr4:8607752 [GRCh37] Chr4:4p16.1	uncertain significance
NM_001014447.3(CPZ):c.1336G>A (p.Gly446Arg)	single nucleotide variant	not specified [RCV004912825]	Chr4:8612135 [GRCh38] Chr4:8613862 [GRCh37] Chr4:4p16.1	uncertain significance
NM_001014447.3(CPZ):c.911C>T (p.Ala304Val)	single nucleotide variant	not specified [RCV004912828]	Chr4:8606741 [GRCh38] Chr4:8608468 [GRCh37] Chr4:4p16.1	uncertain significance
NM_001014447.3(CPZ):c.1433T>A (p.Phe478Tyr)	single nucleotide variant	not specified [RCV004912840]	Chr4:8614428 [GRCh38] Chr4:8616155 [GRCh37] Chr4:4p16.1	uncertain significance
NM_001014447.3(CPZ):c.340G>A (p.Val114Met)	single nucleotide variant	not specified [RCV004912843]	Chr4:8601341 [GRCh38] Chr4:8603068 [GRCh37] Chr4:4p16.1	uncertain significance
NM_001014447.3(CPZ):c.1043T>G (p.Ile348Ser)	single nucleotide variant	not specified [RCV004912844]	Chr4:8606873 [GRCh38] Chr4:8608600 [GRCh37] Chr4:4p16.1	uncertain significance
NM_001014447.3(CPZ):c.1093A>G (p.Met365Val)	single nucleotide variant	not specified [RCV004912849]	Chr4:8607291 [GRCh38] Chr4:8609018 [GRCh37] Chr4:4p16.1	uncertain significance
NC_000004.11:g.(?_2357152)_(15176083_?)del	deletion	not provided [RCV004580846]	Chr4:2357152..15176083 [GRCh37] Chr4:4p16.3-15.33	pathogenic
GRCh38/hg38 4p16.3-15.33(chr4:72555-12898612)x1	copy number loss	See cases [RCV000138198]	Chr4:72555..12898612 [GRCh38] Chr4:72447..12900236 [GRCh37] Chr4:62447..12509334 [NCBI36] Chr4:4p16.3-15.33	pathogenic
GRCh38/hg38 4p16.3-15.31(chr4:68453-20385608)x1	copy number loss	See cases [RCV000143713]	Chr4:68453..20385608 [GRCh38] Chr4:68345..20387231 [GRCh37] Chr4:58345..19996329 [NCBI36] Chr4:4p16.3-15.31	pathogenic
GRCh38/hg38 4p16.3-15.33(chr4:68453-14612453)x1	copy number loss	See cases [RCV000143686]	Chr4:68453..14612453 [GRCh38] Chr4:68345..14614077 [GRCh37] Chr4:58345..14223175 [NCBI36] Chr4:4p16.3-15.33	pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:127233-8667610)x3	copy number gain	See cases [RCV000240481]	Chr4:127233..8667610 [GRCh37] Chr4:4p16.3-16.1	pathogenic
GRCh37/hg19 4p16.3-15.31(chr4:68345-20533787)x1	copy number loss	See cases [RCV000449197]	Chr4:68345..20533787 [GRCh37] Chr4:4p16.3-15.31	pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190963766)x3	copy number gain	not provided [RCV000743156]	Chr4:49450..190963766 [GRCh37] Chr4:4p16.3-q35.2	pathogenic
GRCh37/hg19 4p16.1(chr4:8621386-8631465)x1	copy number loss	not provided [RCV000743301]	Chr4:8621386..8631465 [GRCh37] Chr4:4p16.1	benign
GRCh37/hg19 4p16.3-12(chr4:49450-46339070)x3	copy number gain	not provided [RCV000743154]	Chr4:49450..46339070 [GRCh37] Chr4:4p16.3-12	pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:68345-8731855)x1	copy number loss	not provided [RCV001005512]	Chr4:68345..8731855 [GRCh37] Chr4:4p16.3-16.1	pathogenic
NM_001014447.3(CPZ):c.718G>A (p.Glu240Lys)	single nucleotide variant	not specified [RCV004133794]	Chr4:8605997 [GRCh38] Chr4:8607724 [GRCh37] Chr4:4p16.1	uncertain significance
NM_001014447.3(CPZ):c.718G>C (p.Glu240Gln)	single nucleotide variant	not specified [RCV004204249]	Chr4:8605997 [GRCh38] Chr4:8607724 [GRCh37] Chr4:4p16.1	uncertain significance
NM_001014447.3(CPZ):c.11C>A (p.Pro4Gln)	single nucleotide variant	not specified [RCV004119104]	Chr4:8592844 [GRCh38] Chr4:8594571 [GRCh37] Chr4:4p16.1	uncertain significance
GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3	copy number gain	Neurodevelopmental disorder [RCV003327613]	Chr4:85624..57073230 [GRCh38] Chr4:4p16.3-q12	pathogenic
GRCh37/hg19 4p16.3-15.32(chr4:85622-16900108)x1	copy number loss	not provided [RCV003334269]	Chr4:85622..16900108 [GRCh37] Chr4:4p16.3-15.32	pathogenic
NM_001014447.3(CPZ):c.1147G>C (p.Asp383His)	single nucleotide variant	not specified [RCV004351743]	Chr4:8607345 [GRCh38] Chr4:8609072 [GRCh37] Chr4:4p16.1	uncertain significance
NM_001014447.3(CPZ):c.584G>A (p.Arg195His)	single nucleotide variant	not specified [RCV004374791]	Chr4:8604063 [GRCh38] Chr4:8605790 [GRCh37] Chr4:4p16.1	uncertain significance
NM_001014447.3(CPZ):c.1341G>A (p.Ala447=)	single nucleotide variant	CPZ-related disorder [RCV003981973]	Chr4:8612140 [GRCh38] Chr4:8613867 [GRCh37] Chr4:4p16.1	benign
NM_001014447.3(CPZ):c.97C>T (p.His33Tyr)	single nucleotide variant	not specified [RCV004374802]	Chr4:8599461 [GRCh38] Chr4:8601188 [GRCh37] Chr4:4p16.1	uncertain significance
NM_001014447.3(CPZ):c.986C>T (p.Thr329Met)	single nucleotide variant	not specified [RCV004374803]	Chr4:8606816 [GRCh38] Chr4:8608543 [GRCh37] Chr4:4p16.1	uncertain significance
NM_001014447.3(CPZ):c.1858C>G (p.Arg620Gly)	single nucleotide variant	not specified [RCV004374782]	Chr4:8619516 [GRCh38] Chr4:8621243 [GRCh37] Chr4:4p16.1	likely benign
NM_001014447.3(CPZ):c.1753G>C (p.Gly585Arg)	single nucleotide variant	not specified [RCV004374779]	Chr4:8619411 [GRCh38] Chr4:8621138 [GRCh37] Chr4:4p16.1	uncertain significance
NM_001014447.3(CPZ):c.1565G>A (p.Arg522Gln)	single nucleotide variant	not specified [RCV004374776]	Chr4:8618490 [GRCh38] Chr4:8620217 [GRCh37] Chr4:4p16.1	uncertain significance
NM_001014447.3(CPZ):c.1358C>T (p.Thr453Met)	single nucleotide variant	not specified [RCV004374775]	Chr4:8612157 [GRCh38] Chr4:8613884 [GRCh37] Chr4:4p16.1	uncertain significance
NM_001014447.3(CPZ):c.1214C>A (p.Thr405Lys)	single nucleotide variant	not specified [RCV004374771]	Chr4:8607412 [GRCh38] Chr4:8609139 [GRCh37] Chr4:4p16.1	uncertain significance
NM_001014447.3(CPZ):c.1210C>G (p.Pro404Ala)	single nucleotide variant	not specified [RCV004374770]	Chr4:8607408 [GRCh38] Chr4:8609135 [GRCh37] Chr4:4p16.1	uncertain significance
NM_001014447.3(CPZ):c.389A>T (p.Gln130Leu)	single nucleotide variant	CPZ-related disorder [RCV003973941]	Chr4:8601390 [GRCh38] Chr4:8603117 [GRCh37] Chr4:4p16.1	benign
NM_001014447.3(CPZ):c.497-5C>G	single nucleotide variant	CPZ-related disorder [RCV003969110]	Chr4:8603971 [GRCh38] Chr4:8605698 [GRCh37] Chr4:4p16.1	likely benign
NM_001014447.3(CPZ):c.639C>T (p.Ile213=)	single nucleotide variant	CPZ-related disorder [RCV003931472]	Chr4:8604118 [GRCh38] Chr4:8605845 [GRCh37] Chr4:4p16.1	benign
NM_001014447.3(CPZ):c.1198A>G (p.Lys400Glu)	single nucleotide variant	CPZ-related disorder [RCV003931451]	Chr4:8607396 [GRCh38] Chr4:8609123 [GRCh37] Chr4:4p16.1	likely benign
GRCh37/hg19 4p16.3-15.33(chr4:85622-13316942)x1	copy number loss	not provided [RCV003885506]	Chr4:85622..13316942 [GRCh37] Chr4:4p16.3-15.33	pathogenic

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


RefSeq Transcripts	XM_013509737	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_013509739	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AGCD01008756	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AGCD01008757	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AGCD01008758	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AGCD01008759	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AGCD01008760	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AGCD01008761	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AGCD01008762	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	GBCE01136761	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENSCLAT00000019870 ⟹ ENSCLAP00000019677

Type:

CODING

Position:

Chinchilla Assembly	Chr	Position (strand)	Source
ChiLan1.0 Ensembl	NW_004955408	29,413,595 - 29,542,768 (+)	Ensembl

Ensembl Acc Id:

ENSCLAT00000019871 ⟹ ENSCLAP00000019678

Type:

CODING

Position:

Chinchilla Assembly	Chr	Position (strand)	Source
ChiLan1.0 Ensembl	NW_004955408	29,415,068 - 29,542,768 (+)	Ensembl

Ensembl Acc Id:

ENSCLAT00000019872 ⟹ ENSCLAP00000019679

Type:

CODING

Position:

Chinchilla Assembly	Chr	Position (strand)	Source
ChiLan1.0 Ensembl	NW_004955408	29,415,068 - 29,542,768 (+)	Ensembl

RefSeq Acc Id:

XM_013509737 ⟹ XP_013365191

Type:

CODING

Position:

Chinchilla Assembly	Chr	Position (strand)	Source
ChiLan1.0	NW_004955408	29,416,393 - 29,547,444 (+)	NCBI

Sequence:

show sequence

ATTCCAGGTTGATGCCGCCCCAGGATGGATCAGACCTGTGAACTGTCTAGAAGAAATTGTCTGCTGCCCTTTTCCAATCCAGTGAATTTAGATGCCCCTGAAGACAAGGACAGCCCTTTCGGTAATGG
TCAATCCAATTTTTCTGAGCCACTTAATGGGTGTACTATGCAGTTATCGACTGCTAGTGGAACATCCCAAAATGCTTATGGACAAGATTCTCCATCTTGTTACATTCCACTGCGGAGACTACAGGATT
TGGCCTCCATGATCAATGTAGAATATTTAAATGGGTCTGCTGATGGATCAGAATCCTTTCAAGACCCTGAAAAAAGTGATTCAAGAGCTCAGTCGCCAGTTGTTTGCACTTCCTTGAGTCCTGGTGGT
CCAACAGCACTTCCTATGAAACAGGAACCCTCTTGTAATAACTCCCCTGAACTCCAGTTAAAAGTAACAAAGACTATCAAGAATGGCTTTCTGCACTTTGAGAATTTTACTTGTGTGGACGATGCAGA
TATAGATTCTGAAATGGACCCAGAACAGCCAGTCACAGAGGATGAGAGTATAGAGGAGATCTTTGAGGACACTCAGACCAATGCCACCTGCAAATATGAGCCTAAATCAGAGAATGATGTAGAAGTGG
CCATGGGAAGTGAACAAGACAGCACATCAGAGAGTAGTCACGGTGCAGTCAAATCGCCATTCTTGCCATTAGCTCCTCAAACTGAAACACAGAAAAATAAGCAAAGAGATGAAGTGGACGGCAGCAAT
GAAAAAGCAGCCCTTCTCCCAGCCCCCTTTTCACTAGGAGATACAAACATTACCATAGAAGAGCAATTAAATTCAATAAATTTATCTTTTCAGGATGATCCAGACTCCAGTACCAGTACATTAGGAAA
CATGCTAGAATTACCTGGAACTTCATCATCATCTACTTCACAGGAATTGCCATTTTGTCAACCCAAGAAAAAGTCTGCGCCATTGAAGTATGAAGTTGGAGATCTCATTTGGGCAAAATTCAAGAGAC
GCCCATGGTGGCCCTGCAGGATTTGCTCTGATCCGTTGATTAATACACATTCAAAAATGAAAGTTGCCAACCGGAGGCCCTATCGTGAGTACTACGTGGAGGCTTTTGGAGACCCTTCTGAAAGAGCC
TGGGTGGCTGGAAAAGCAATTGTCATGTTTGAAGGCAGGCATCAATTTGAAGAATTACCTGTCCTTAGGAAAAGAGGAAAGCAGAAAGAAAAAGGTTATAGACATAAGGTGCCTCAGAAAATTTTGAG
TAAATGGGAAGCCAGTGTTGGTCTTGCTGAACAGTATGATGTTCCCAAAGGGTCAAGGAACAGGAAATGTGTCACCAGTTCAATCAAGTTGGACAGCGAAGAGGACATGCCATTTGAGGATTGTACAA
ATGATCCTGAATCAGAACATGACCTATTGCTTAATGGCTGCTTGAAATCTCTGGCTTTTGATTCTGAACATTCTGCAGATGAGAAGGAAAAACCCCCTGCTAAGTCTCGAACTAGAAAAAGCTCTGAT
AATCTAAAAAGGACTAGTGTGAAAAAGGGCCTTATGCAGTTTGAAACACATAAAGAGGAATGGAGGGGAAAGACTCCTGAGAACCTTAGCCTAAATTTTATCTCTGGGGATGTGTCTGATAATCAGGC
CTCTAATGAACTTTCTAGGATAGCAAACAGCCTCAGTGGGTCCAGCACTTCCCCAGGCAGTTTTCTCTTTGCTTCATGTGGAAAAAACACTGCAAAGAAAGAATTTGAGACTTCAAATTGTGATGGTT
TATTAGGATTATCTGAGGGTGCCTTGATCTCTAAACGCTCTGGGGAGAAAAAGCGAGGTCTGGTGTGTAATTCGAAAGTACAGCTCTGCTATGTTGGAGCTGGTGATGAAGAAAAGCGAAGTGATTCC
ATTAGTATCTGTACCACTTCTGATGATGGAAGCAGTGATCTGGATCCCATAGAACACAGCTCAGAGTCTGATAACAGTGTCCTTGAAATTACAGATACTTTTGATAGAACAGAGAATGTGTTACCTGT
ACAGAAAAATGAAAAGATGAAGTATTCTAGGTATCCTGACACAAACACTAGAGTAAAAGCCAAATCGAAGCCCTTCATTGCTAACTCACATACAGACCACTTACTGGCTTGTAAGACAGCAGAGCCTG
GAACTGAAACATCTCAGGTTAATCTCTCTGATCTTAAGGTGTCTACTTTTGTTCAGAAATCCCATTCAGATTTTAGAAATGATAATCTGTCTCCAAAATTCAACACACCAAACATTTCCAGTGAGAAC
TCACTAATGAAAAGTGGGGCTACACATCAAGGTCTATTACATTCAAAAAACAAACAGCCCAAGTTCCGAAATATAAAGTGCAAACATAAAGAAAATCCAGTTATGGTAGAATCACAAGTTATAAATGA
GGACTGCAGTTTGAGATGCTGCTCTTCTGATTCTAAAGGTTCTGCTTTGGCCAGCATTTCTAAAAGTGGGAAAGTAGATGGGCTAAAGCTACTAAACAACATGCATGAGAAAACCAGGGATTCAAGTG
ACATAGAAACAGCAGTGGTAAAACATGTTCTGTCAGAATTGAAAGAACTTTCTTACAGATCCTTAAGTGATGATGTCAGTGACTCTGGAACACCAAAGCCATCAAAACCATTACTTTTTTCTTCCACT
TCTAGTCAGAATCATATGCCTATTGAACCAGACTACAAATTCAGTACACTGCTAATGATGCTAAAAGATATGCATGATAGTAAGACCAAGGAGCAAAGGTTGATGACAGGTCAAAACCTGGTCTCTTA
TCGAAGTCCTGCCCGTGGAGACTGTTCTACCAGTAGCCCTGTAGGGGCATCTAAAGTTTTAGTTTCAGGAGGCTCTACACACAATGCAGAAAAAAATGGAGATGGCACTCAGGATTCAGCCCGTCCTT
GCCCTAATGGGAGTGACTCTGCACTGTCTGGGGAGTTGTCTGCCTCCCTACCTGATTTAGTGTCCAATAGAAGAGACTTCCCTCCTGGAAAAAGTCGATCAAACTGTGTTTCTAGGCGTAACTGTGGC
AGATCAAAATTGTCACCCAAAATGAGAGATGCATTTTCAGTCCAAATAGCAAAGAACACAGTGAACCGGAAAACCTTAAAGACAGAGAAAACCTTAAAGACAGAGCGCAAAAGAAAACTGAACCGACT
TCCAGCTCTGACCCTTCCAGGTACAACACAGGGAGACAAAGGGAGTGGAGCTTCAGTGAATAGCCCATCAAGGAATAGGGCAGCAGATCCTCCTAAAGAAGAACCTCTGCAATTAATGGACCATTTAG
CAAGTGAAGATGTTCACTTTTCTGATGTACATTTTGATAACAAAATTAAACAGTCTGACCCTGATAAAATTTCTGAAAAAGGATCCACTTTTGAGAACAGTAAAGGCCCAATGTTGGATTCTGAAATG
AACAGTGAGCATGATGAACCCAGTACTGGTATAAGTCAAGTAGTGCCTAAAAAGCGGTGGCAGCGTGTAAACCAAAGGCGCACTAAACCTGGAAAGCGCACTAACAGATTTAGGGAGAAGGAAAACTC
TGAGGGCGCCTTTGGGGTCTTTCCTCCTGGCGAACCTATAGAGAAAGGGCACAATAATTTCTCAGAGCATAGAGCTCCTCCTCCTTCTACAGATACACTAGAGGATTCGCTAACAACTCCTAATCATG
TCAGCCACCTAGATTCAGTTGGGCCACGGTTGAATGTTTGTGATAAATCCAGTACCAGCATGGAGAACATGGAAAAAGAGCCAGGAATTCCCAACTTGACACCACAGGCTGAGCTCCCTGAGCCAGCT
GTGCGATCAGAGAAGAAACGCCTTAGGAAACCAAGCAAGTGGCTTCTGGAATATACAGAAGAATATGATCAGATATTTGCACCTAAGAAAAAGCAAAAGAAGGTACAGGAACAAGCGCACAAGGTAAG
TTCCCGCTGTGAAGAAGAAAGCCTTCTGTCCCGCTGTCAGTCTGGTAATCAGAACAAGCAGGTGGATGAGAATTCTTTTATTTCAACCAAAGAAGAGCCTCCAGTTCTTGAAAGGGAGGCTCCGTTTT
TGGAGGGGCCCTTGGCTCAGTCAGAACTTGGAGTTGGTCATGCTGAGTTGCCACAGCTAACGTTGTCTGTGCCTATGGCTCCAGAAGTCTCTCCGAGGCCTGCCCTTGAGTCTGAAGATATGATTGTT
AAAACACCAGGAAACTATGAAAGTAAACGCCAAAGGAAACCAACTAAGAAACTTCTTGAATCCAATGATTTAGACCCTGGATTTATGCCCAAGAAGGGGGACATTGGCTTTTCTAAAAAGTGTTATGA
AGGTGGTCATTTGGAGAATGGCATTACTGAATCTTGTACTGTGTCTCATTTGAAAGAATTTCGTAAAGGCATGACCAAGATGTTTGACAAGCCAAGGAAACGAAAACGACAGAGACATGTTACACCCA
AGGTGCAGTGCAAAAGAGTGAAAAATGGTGACTCATCAAAAGAAACTCCAGGCTTGGAGGGAGAACTGATGACTCACAGGACAGCTGCAAGCCCGAAGGAGAATATTGAGGAGGGCATAGAACACGAT
GCTGGGATGTCTTCATCTAAAAGAATGCAGAGTGAACGAGGAGGAGGAGCTGCACTCAAGGAGAATGTTTGTCAGAACTGTGAGAAAGTGGGTGAGCTGCTATTATGTGAGGCTCAGTGCTGTGGGGC
TTTCCACCTGGAGTGCCTTGGGTTAACTGAGATGCCACGAGGAAAATTTATCTGCAATGAGTGTCGCACAGGAATCCATACCTGTTTTGTATGTAAACAGAGTGGGGAAGATGTTAAAAGGTGCCTTC
TACCCTTGTGTGGAAAGTTTTACCATGAAGATTGTGTCCAGAAGTACCCACCAACTGTCATGCAGAACAAGGGCTTCCGGTGCTCCCTCCACATCTGTATTACCTGTCATGCTGCTAATCCAGCCAGT
GTTTCAGCATCTAAAGGTCGTCTGATGCGCTGTGTCCGTTGTCCTGTGGCATACCATGCAAATGACTTTTGTTTAGCTGCAGGGTCAAAGATCCTTGCATCGAATAGTATCATCTGTCCTAATCACTT
TACCCCTAGGCGGGGCTGCCGAAATCATGAGCATGTCAATGTCAGCTGGTGTTTTGTGTGCTCAGAAGGAGGCAGCCTGCTGTGCTGCGATTCTTGTCCTGCTGCTTTTCATCGTGAATGCCTAAATA
TTGATATCCCTGAAGGAAACTGGTATTGCAATGACTGTAAGGCAGGCAAAAAGCCACACTACAGGGAAATTGTATGGGTAAAAGTTGGACGATACAGGTGGTGGCCAGCTGAGATCTGCCATCCTCGA
GCTATTCCTTCCAACATTGATAAAATGAGACATGATGTAGGCGAGTTCCCTGTTCTCTTCTTTGGATCCAATGACTATCTGTGGACTCACCAGGCTCGAGTCTTTCCTTACATGGAGGGGGATGTGAG
CAGCAAGGATAAGATGGGCAAAGGAGTGGATGGAACATATAAAAAAGCTCTTCAGGAAGCAGCAGCAAGATTTGAGGAGTTAAAGGCACAAAAAGAGCTAAGACAGCTGCAGGAAGATAGAAAAAATG
ACAAGAAGCCACCACCTTATAAACATATAAAGGTGAACCGTCCTATTGGCAGGGTGCAGATCTTCACTGCAGACTTATCGGAAATTCCCCGTTGCAATTGTAAAGCTACTGATGAAAACCCTTGTGGG
ATAGACTCTGAGTGCATCAACCGCATGCTGCTATATGAATGCCACCCCACAGTATGTCCTGCTGGAGGCCGCTGTCAAAACCAGTGTTTCAGTAAGCGCCAGTATCCAGAGGTTGAAATTTTCCGCAC
ATTACAGAGGGGCTGGGGTCTACGGACAAAAACAGATATTAAAAAGGGTGAATTTGTGAATGAATATGTGGGTGAACTAATAGACGAAGAAGAATGCAGAGCTCGAATCCGTTATGCCCAAGAACATG
ATATTACTAATTTCTATATGCTCACCCTAGATAAAGACCGAATCATTGATGCTGGTCCCAAAGGAAACTATGCTCGGTTTATGAATCATTGCTGCCAGCCCAACTGTGAAACACAGAAGTGGTCTGTG
AATGGAGATACCCGTGTCGGCCTTTTTGCCCTGAGTGACATTAAAGCAGGCACTGAACTTACCTTCAATTACAACCTAGAATGTCTTGGGAATGGAAAAACTGTTTGCAAATGTGGAGCTCCAAACTG
CAGTGGCTTCTTGGGTGTCAGGCCAAAGAATCAACCCATTGCCACAGAAGAAAAGTCAAAAAAATTCAAGAAGAAACAACAGGGGAAGCGCAGAAGCCAGGGTGAAATCACAAAAGAACGAGAGGATG
AATGTTTCAGCTGTGGGGATGCCGGCCAGCTGGTCTCCTGCAAGAAACCAGGCTGCCCCAAAGTTTACCATGCAGACTGTCTCAATCTGACCAAGCGACCAGCAGGGAAGTGGGAGTGTCCTTGGCAC
CAGTGTGACGTCTGTGGGAAGGAAGCAGCCTCCTTCTGTGAGATGTGCCCCAGTTCATTCTGCAAGCAACATCGGGAAGGGATGCTCTTCATTTCCAAACTCGATGGGCGTCTCTCTTGTACTGAGCA
TGATCCCTGTGGGCCCAACCCTCTGGAACCTGGGGAGATCCGTGAGTATGTGCCTCCCTCAGTGCCGCTGCCTCCAAGCCCCAGTACTCACCTGGCAGAACAATCATCAGGAATGGCTGCTCAGGGTC
CCAAGATGTCAGATAAACCACCTGCTGATGCCAACCAGACGTTGCCACTCTCCAAAAAAGCTCTGGCAGGGACTTGTCAGAGGCCACTGCTACCTGAAAGACCTCTGGAGAGAAGTGACTCCAGCTCC
CAGCTTTTAGATAGGGTCAGAGACCTTGCTGGGTCAGGGACCAAATCGCAATCCTTATCAAACCAGAGGCCGCTGGACAGGCCATCTGCAGTGGAAGGACCAAGACCACAGCTATCTGACAAACCCTC
TCCAGTGACCAGCCCAAGCTCCTCACCCTCAGTGAGGTCTCAACCACTGGAAAGACCCCTGGGGATGGCTGACCCAAGGCTGGATAAATCTATAGGTGCTGCCAGCCCAAGGCCCCAGTCACTAGAGA
AAAACCCAGCTCCCACAGGCCTGAGACTTCCGCCGCCAGACAGACTGCTAATCACCAACAGTCCCAAACCCCAGACTTCTGACAGGCCCACAGACAAATCCCACACCTCTTTGGCTCAGAGACTTCCA
CCTCCTGAGAAAGTACTATCAGCTGTGGTACAGACCCTGGTAGCTAAAGAAAAAGCACTGAGGCCTGTGGATCAGAACACTCAGTCAAAAAACAGAGCTGCTTTGGTGATGGATCTCATAGACTTAAC
TCCTCGCCAGAAAGAACAGGCTACTTCTCATGAGGTCACACCGCAGGCTGATGAGAAGATGCCACTGTTGGAGTCAAGCTCATGGCCTGTTGGCAAAGGTCTGGGGCATGTGCCACGAGCTCTGGAGA
AAGGAAGCATGTCAGATCCCCTTTTCCAACCACCTGGGAAAACTGCAGCCCATTCTGAGCACACCTGGCAAGCTGTTAAATCACTCACCCAGGCCAGACTTCTTTCTCAGCCTCCTGCCAAGGCTTTT
TTATATGAGTCAGCTACTCAGGCTTCAGGAAGAGCTCCTGCAGGAGTTGAGCAGACCCCAGGGCCCCCGAGCCAACCTCCAGGCATGGTGAAGCAGGTGAAGCAGATGGCTGGAGGCCAGCATCTACC
TGGACTTACTGCCAAAAGTGGCCAGTCCTTTAGGTCTCTTGGCAAGGCTCCAACCTCCCTCCCCACTGAAGAGAAGAAGTTGCCAACCACAGAGCCGAGTCATTGGTCCCTGGGAAAAGCTTCGCCAG
GGACAGGACTCTGGCCCATAGTGGCTGGACAGGCACTGGCACAGTCTTGCTGGTCTGCTGGGAGTACACAGACATTGGCACAGACTTGCTGGTCTATTGGAAGAGGGCAAGATCCCAAACGAGAGCAA
AATACACTTCCAACTCTTAACCAGGCTCCTTCCAGTCACAAGTGTGCAGAGTCAGAACAGAAATAATACCTGTAAATGTCACACGTCCAGACAAGCTGTACCCAGAGTACCATATGGGGAGGGGAATC
TATGTTTCTTTCTTTTCCCCCTTTGAAAAATAGACCTACCCCCAACACTCTTCCACTGTTACTCTTTCCTTGTATTCCAGTACTCAGAATTCTTGTGACATTAGCCAGTGGGGGTTTCTGGTTGTGTG
AACCATGTATGGGAATTCAACCAGCCCCAGCCATGCAGACAGACAGACTTGCATCTCTTTCCCCCAATTTTTACACACAGTCAACTTAAAATAAAAAGTCCACTCTGGAGTCAAGCATGGAATTCAAT
TCCGCTGGTCAAGCTGGAAAGTATAGGGGCTCTTAAAGCTATTTCCCCAGCCTAGCAGAGCCTCACTGAGGGCACTCTATGAACTCTTGGGAGGAACCAGTGTTCATTCAGAATCAGTAGCAATTTTC
TGAGCATTCATGTGTGCTAGGCTTAGGTTGGTCACTGACAAAAACACAAGTACATAAAGCCTGATTCCTGTGAGCCTAACTTGCTGCCTAGGTTCCCAAGGTTCCCAAGACTGCTTTTAGGAACTTTT
GACCTGGAAACTACAGGAAATATTGAGGGGCCTTGGATTTCCAGGGTTATTTTGAAATGTTCTGTGTGGCACCAGATGTGGCTGTGTTGAACAAGTGTCTCCTGCTTGTGGTGTGAGTGCGTATATAT
GTACACTGCATCTTCAAAACTCTGCTTTTGTAGATGGAATGGTGCTGCATCAAGGCCAAGGAAGGGTTTTGGCTGAGGCAGGTGCTACTTTCATCTGCATTATGCCCAGTCTGCAGATTTGTCCTTGG
AGAAGCAGCTGGTTTAGGAGGAGCTGGGCTCTATGAGAATGTCGCTAGCTTTCTAGCAGTGAAGAGAATTGGCAAGCTTACTTTTTCTTTTCTATCAGTTTTCACATGAACCCATTCCCCCACGCCCG
TTTTCTCAAAACACTCAGGTGCTTTCAGATTTCAGTCTCAGGCAATGGACATAGGGAATCTCTGGCCAGCTGTGAGCCAGACACACTAACTTCCAGAACAGTGCTGGGCCCTAATGGAAAATTATTTC
TGCCCTAGTCCTTTGTCTTTTTAATTGAACTAAGGGAGTCCTCTTCACCACCTCCCTGAGATTTGCTGTGCTTTTTATGGAGAGCACTTGCCTGCTGACGTAGCTTAAAAGCCAGAACCTTTCCCTAA
GACTGGAAGGAGAAAATGTTTGGAGCAGTGTCCAGTCTAAGAGATGATTCCTCATTAACTGCTGATTATCTGTTACTGCTGCCCTGAGCTGGGGGACCCAAGGGCTGGGAAATCTATTGGTGCTACCC
TGCCCTACCATTCACCCAGCTCGACCTGCCAACAGGTAATACTGTTTGGCTAGTTCCTTCCCACTCACCCACCCCTCCTTTGTCCCTAAACCAACCAATCTCTCTGCTTTGCCAACTTAGCCAGAAGC
TTTAGCCAACAGGCCACCTCTTGGCCCTAGTGTCTCCTGGCCATTGTGTCAGTTACTGCTTTTACATTCTCAACAGGATTCTGTATCTTGTCCCAATTTTCTCCTAAGTTCCTACTAAGATTACATCA
CTTCCAAGGGGAAGGAACAGTAGTTGTTATAGAAGCATTTGCGCTTTATATAAAGATTGAAAATAGAAAAGGCTTTTTATTTCCCAAAGTCTATCTGTGGGGTTGAGATACTTGAACTCAGGCAGAGG
GTTCAGGCTGGGCAGGGCTGTCCTGAGTTTAGAGCCTATCCCTGCATTTCACTGAGACCTCAGAAAACCTGCCTAGTTCTTCCATTTCACCCTTTTTATCCTCTCTTCCACATCATCAGAGAAGGAAA
AGCTATTTGTTCAAAAGGAAGAGAAAAATATAAAGCATCTTATTTTCTTTTAAAAGAATTTTAAACCATGAAAAAGATATTTTTAAAGAAATTACCCAGAACATTAAAGTTCACTATATTAAGTATTT
ATCATGTGTGGAATAATAAGTATATAATTGCAGCTAGTAGCCCCCTTCCCTAACCTCTTAGGTTGTGAGTAGGTTGCTTGGTGCCAGTCCTATGTGCCGTTTGCTCTCCTGTCATCTGTAGTTGTGAT
CAAAAAAATATCTGCACTGCACTATCAGAATCTCCTTTCACTATGTTGTGTGTTCAATTATCTTATTAGCTTTGTTTCATGAAATAAACTGTGAATTTTTTTGGGGGGTGGGCATGCAGGCTTTGTAA
AGTTTTAATTCTGAACTAGCTTCTCTGTAGTAGGCTGTGGTAGGTGATTGACTTTGACAGCCATCTTAGAAATGTCTCACAGGTCAGGAGGGAAGTGAGGGATAGGGGGCTTTGATTGGCCACTTTGT
GGTTTTGATTTGGCTCTTTCCATTCTTTACCATTTACTGGAGGCTTTGTTCCAGACCTGCCTAGGAAAACTTCGGAGCTGTGTACTTGGTTTTGGGTGACAGTTCTTTGAATGCAATGACAACCAGGC
TTCTCTCCAGAACCACTGACTCAGGGTGTTGAATGGAAATTAGAAAGTCAAGCCATTGGGCGCACTGTGGTAGCATGAATGCAGTTACTATCCAGTTAGAAGCAGTCAGCACAACTGCTGGGAAATGA
CTCACATATGAAGGTGGGAAGAGGGTGACCCATCAGCCTTTTTGGACTTCTGAAGCCTGCAATGAGACCTTTTCTTCAAGGGGGTGTGGACTGGCAGTAAATCTTTTTATTTTAGAAACTTCTGATAA
TTGTGCAGGATGGTATTTTATTGTTTGGTATTTGGCTCAATACTTGGAAGATAAGTTCTCAAGAGAGTCTGTTTATGAGCCAGTTTCCCAGGAAGCCTTTTTGAGGAGCAAGCCAAAGATGGAAATGC
TCCTTATGAAGCTAGAAAATTAATACCCGAGTCCTGATAAATCAGGAAAAAAAATTATGGAAACTGCTGAAATTTGTATTCAAAGTCTCATGTTTCTCCTGCAGGAACTAACTCATTCTAATATAAAA
CCTGTCATTGCCACAAAAGCATCCATGATTTTAGATGCTTGCTTTTCTCTAAAGTTACTGAGTTTGAGATTACTTAAATCACTGTTGATCGTCTTCTGAGCCAAATTTACCTCTTTGGCATTCATGAA
TTATTCTTCAAATCCTCCACTCCACACTGTAGTCAAGGTATCGAGTGTACACGCAGTCCTTCCTGATTTGCCATCATGTGCTCATGAAGCTGGAGTCCCAAATTGTATTAATGTTGCCTTGTGAGAAC
TAGCGAGCAGGAAGGAGCACTGATCTTCGTGAAAAACAATTGAGAGCATTAAATTTGGTATGTTTTACTAGTAGCTCCTATAGGGCAGGTTTTCTCCTAAGGCTTGGGACATTGTCAACCTCTTAGGG
TTTGTCACCAGGTCAGAGGGGCCCAGTGGCCTAACCTCCAAGACCATGGCAGGAAAGGCATTGCTTCAGTCCTTTTTCCTGCTGAGTAAAATTTGACTTCTCATGTGTTAAGACATTCCACATCATTT
AGAGCTAGGTAGCTGCTGTGGGAGCTCCCCTTGCCTGTGGCCATTTAGCTTTCAGCTGAACATCCTAGGCCAGTACAGCAGGGCCAGAGATTGCTATAGTGTAAGTTGAAATAATGAATAGATAACTG
CTTTGTGTATACACGCACACATACACACACACACACACACACACAATGATGGTGCTAATTTCATTATATAGATAAGCACTGCCAAGGGTTGAGGGACTGGTGACTTTACTTGGGTTCCTATTTGCCGG
GTAAGAGATTTCACACAAGGTTTCTTTGAGGCCCTATGAGAAGTAGGGAGAAGGCAACACCTCTGTGAAGCCTGTACTCAACCCTGGAGTGGTCCCATGCAAACCAGAGGTGGAAGAGATCCTGTGAC
TAGTTGAAGGTGGTCATTGAGTTTTTCAGGGCTGGGGTCACTTCACCAGAAACAGGCTGGTAGAGAGCTCTGGGTCTCCCTCCATTACCTTCTGCCCCTCTACCTCGTCTCTCATGGAAGCATCTCTG
TTGCTTATGAAGATTAAGGGTAATACTTTTTAAGGAAATGGAAAGAGTTTACTTAGAAATCTACAGACTCAGAAGAAATCTCTTGCCAACATAAGCAGAACAGCACATACTAAATTCTTCTGTGGTCC
TTTCCCTAGAGTTGCCTTCTCATGACTCTTTAAGAATCAGGCTATGAGGGGCCCTGGAACAGCACCTGGGGGTTCAGTAAAGCTCTGTAGACAGAAGCAAACACAGGGAGCAGAGCAGAAACGAACAG
TCCCGGTACATTAGGCTCCAGGCTAGGTGGAGCAGGTAGTCTCCCAGCTTGAGGTGGTGCTGCTTATGTGTGTATGTAGGTGTGTGGAAGATGACGAGTGCAGCACGCAGGAGCTTGTGGAAGAGCAG
CTTTCTAGGTCTTGGCAAAGAAACAAGCTGACATGAGAGGTCTGTTTTTATATTTTTAAGAAAGGGGAGGGGCAGGGGATCCAGCCAAGGCCCATCACTGTTGCCTCCCCCGACCCTGCCCTGTCCCT
TCAGACTGTCAGCTGGAAGTGAAACTCCTAGTGAAAAGAGGGGAACCCTGTGCTAGGAGTCCCCATAAACATGTACTGTAATTCTTTGTATATATAAAAAAAATACTGTAAAGTAAAGTTTAACTTTA
CTCTTA

hide sequence

RefSeq Acc Id:

XM_013509739 ⟹ XP_013365193

Type:

CODING

Position:

Chinchilla Assembly	Chr	Position (strand)	Source
ChiLan1.0	NW_004955408	29,416,393 - 29,547,444 (+)	NCBI

Sequence:

show sequence

ATTCCAGGTTGATGCCGCCCCAGGATGGATCAGACCTGTGAACTGTCTAGAAGAAATTGTCTGC
TGCCCTTTTCCAATCCAGTGAATTTAGATGCCCCTGAAGACAAGGACAGCCCTTTCGGATGATCCAGACTCCAGTACCAGTACATTAGGAAACATGCTAGAATTACCTGGAACTTCATCATCATCTAC
TTCACAGGAATTGCCATTTTGTCAACCCAAGAAAAAGTCTGCGCCATTGAAGTATGAAGTTGGAGATCTCATTTGGGCAAAATTCAAGAGACGCCCATGGTGGCCCTGCAGGATTTGCTCTGATCCGT
TGATTAATACACATTCAAAAATGAAAGTTGCCAACCGGAGGCCCTATCGTGAGTACTACGTGGAGGCTTTTGGAGACCCTTCTGAAAGAGCCTGGGTGGCTGGAAAAGCAATTGTCATGTTTGAAGGC
AGGCATCAATTTGAAGAATTACCTGTCCTTAGGAAAAGAGGAAAGCAGAAAGAAAAAGGTTATAGACATAAGGTGCCTCAGAAAATTTTGAGTAAATGGGAAGCCAGTGTTGGTCTTGCTGAACAGTA
TGATGTTCCCAAAGGGTCAAGGAACAGGAAATGTGTCACCAGTTCAATCAAGTTGGACAGCGAAGAGGACATGCCATTTGAGGATTGTACAAATGATCCTGAATCAGAACATGACCTATTGCTTAATG
GCTGCTTGAAATCTCTGGCTTTTGATTCTGAACATTCTGCAGATGAGAAGGAAAAACCCCCTGCTAAGTCTCGAACTAGAAAAAGCTCTGATAATCTAAAAAGGACTAGTGTGAAAAAGGGCCTTATG
CAGTTTGAAACACATAAAGAGGAATGGAGGGGAAAGACTCCTGAGAACCTTAGCCTAAATTTTATCTCTGGGGATGTGTCTGATAATCAGGCCTCTAATGAACTTTCTAGGATAGCAAACAGCCTCAG
TGGGTCCAGCACTTCCCCAGGCAGTTTTCTCTTTGCTTCATGTGGAAAAAACACTGCAAAGAAAGAATTTGAGACTTCAAATTGTGATGGTTTATTAGGATTATCTGAGGGTGCCTTGATCTCTAAAC
GCTCTGGGGAGAAAAAGCGAGGTCTGGTGTGTAATTCGAAAGTACAGCTCTGCTATGTTGGAGCTGGTGATGAAGAAAAGCGAAGTGATTCCATTAGTATCTGTACCACTTCTGATGATGGAAGCAGT
GATCTGGATCCCATAGAACACAGCTCAGAGTCTGATAACAGTGTCCTTGAAATTACAGATACTTTTGATAGAACAGAGAATGTGTTACCTGTACAGAAAAATGAAAAGATGAAGTATTCTAGGTATCC
TGACACAAACACTAGAGTAAAAGCCAAATCGAAGCCCTTCATTGCTAACTCACATACAGACCACTTACTGGCTTGTAAGACAGCAGAGCCTGGAACTGAAACATCTCAGGTTAATCTCTCTGATCTTA
AGGTGTCTACTTTTGTTCAGAAATCCCATTCAGATTTTAGAAATGATAATCTGTCTCCAAAATTCAACACACCAAACATTTCCAGTGAGAACTCACTAATGAAAAGTGGGGCTACACATCAAGGTCTA
TTACATTCAAAAAACAAACAGCCCAAGTTCCGAAATATAAAGTGCAAACATAAAGAAAATCCAGTTATGGTAGAATCACAAGTTATAAATGAGGACTGCAGTTTGAGATGCTGCTCTTCTGATTCTAA
AGGTTCTGCTTTGGCCAGCATTTCTAAAAGTGGGAAAGTAGATGGGCTAAAGCTACTAAACAACATGCATGAGAAAACCAGGGATTCAAGTGACATAGAAACAGCAGTGGTAAAACATGTTCTGTCAG
AATTGAAAGAACTTTCTTACAGATCCTTAAGTGATGATGTCAGTGACTCTGGAACACCAAAGCCATCAAAACCATTACTTTTTTCTTCCACTTCTAGTCAGAATCATATGCCTATTGAACCAGACTAC
AAATTCAGTACACTGCTAATGATGCTAAAAGATATGCATGATAGTAAGACCAAGGAGCAAAGGTTGATGACAGGTCAAAACCTGGTCTCTTATCGAAGTCCTGCCCGTGGAGACTGTTCTACCAGTAG
CCCTGTAGGGGCATCTAAAGTTTTAGTTTCAGGAGGCTCTACACACAATGCAGAAAAAAATGGAGATGGCACTCAGGATTCAGCCCGTCCTTGCCCTAATGGGAGTGACTCTGCACTGTCTGGGGAGT
TGTCTGCCTCCCTACCTGATTTAGTGTCCAATAGAAGAGACTTCCCTCCTGGAAAAAGTCGATCAAACTGTGTTTCTAGGCGTAACTGTGGCAGATCAAAATTGTCACCCAAAATGAGAGATGCATTT
TCAGTCCAAATAGCAAAGAACACAGTGAACCGGAAAACCTTAAAGACAGAGAAAACCTTAAAGACAGAGCGCAAAAGAAAACTGAACCGACTTCCAGCTCTGACCCTTCCAGGTACAACACAGGGAGA
CAAAGGGAGTGGAGCTTCAGTGAATAGCCCATCAAGGAATAGGGCAGCAGATCCTCCTAAAGAAGAACCTCTGCAATTAATGGACCATTTAGCAAGTGAAGATGTTCACTTTTCTGATGTACATTTTG
ATAACAAAATTAAACAGTCTGACCCTGATAAAATTTCTGAAAAAGGATCCACTTTTGAGAACAGTAAAGGCCCAATGTTGGATTCTGAAATGAACAGTGAGCATGATGAACCCAGTACTGGTATAAGT
CAAGTAGTGCCTAAAAAGCGGTGGCAGCGTGTAAACCAAAGGCGCACTAAACCTGGAAAGCGCACTAACAGATTTAGGGAGAAGGAAAACTCTGAGGGCGCCTTTGGGGTCTTTCCTCCTGGCGAACC
TATAGAGAAAGGGCACAATAATTTCTCAGAGCATAGAGCTCCTCCTCCTTCTACAGATACACTAGAGGATTCGCTAACAACTCCTAATCATGTCAGCCACCTAGATTCAGTTGGGCCACGGTTGAATG
TTTGTGATAAATCCAGTACCAGCATGGAGAACATGGAAAAAGAGCCAGGAATTCCCAACTTGACACCACAGGCTGAGCTCCCTGAGCCAGCTGTGCGATCAGAGAAGAAACGCCTTAGGAAACCAAGC
AAGTGGCTTCTGGAATATACAGAAGAATATGATCAGATATTTGCACCTAAGAAAAAGCAAAAGAAGGTACAGGAACAAGCGCACAAGGTAAGTTCCCGCTGTGAAGAAGAAAGCCTTCTGTCCCGCTG
TCAGTCTGGTAATCAGAACAAGCAGGTGGATGAGAATTCTTTTATTTCAACCAAAGAAGAGCCTCCAGTTCTTGAAAGGGAGGCTCCGTTTTTGGAGGGGCCCTTGGCTCAGTCAGAACTTGGAGTTG
GTCATGCTGAGTTGCCACAGCTAACGTTGTCTGTGCCTATGGCTCCAGAAGTCTCTCCGAGGCCTGCCCTTGAGTCTGAAGATATGATTGTTAAAACACCAGGAAACTATGAAAGTAAACGCCAAAGG
AAACCAACTAAGAAACTTCTTGAATCCAATGATTTAGACCCTGGATTTATGCCCAAGAAGGGGGACATTGGCTTTTCTAAAAAGTGTTATGAAGGTGGTCATTTGGAGAATGGCATTACTGAATCTTG
TACTGTGTCTCATTTGAAAGAATTTCGTAAAGGCATGACCAAGATGTTTGACAAGCCAAGGAAACGAAAACGACAGAGACATGTTACACCCAAGGTGCAGTGCAAAAGAGTGAAAAATGGTGACTCAT
CAAAAGAAACTCCAGGCTTGGAGGGAGAACTGATGACTCACAGGACAGCTGCAAGCCCGAAGGAGAATATTGAGGAGGGCATAGAACACGATGCTGGGATGTCTTCATCTAAAAGAATGCAGAGTGAA
CGAGGAGGAGGAGCTGCACTCAAGGAGAATGTTTGTCAGAACTGTGAGAAAGTGGGTGAGCTGCTATTATGTGAGGCTCAGTGCTGTGGGGCTTTCCACCTGGAGTGCCTTGGGTTAACTGAGATGCC
ACGAGGAAAATTTATCTGCAATGAGTGTCGCACAGGAATCCATACCTGTTTTGTATGTAAACAGAGTGGGGAAGATGTTAAAAGGTGCCTTCTACCCTTGTGTGGAAAGTTTTACCATGAAGATTGTG
TCCAGAAGTACCCACCAACTGTCATGCAGAACAAGGGCTTCCGGTGCTCCCTCCACATCTGTATTACCTGTCATGCTGCTAATCCAGCCAGTGTTTCAGCATCTAAAGGTCGTCTGATGCGCTGTGTC
CGTTGTCCTGTGGCATACCATGCAAATGACTTTTGTTTAGCTGCAGGGTCAAAGATCCTTGCATCGAATAGTATCATCTGTCCTAATCACTTTACCCCTAGGCGGGGCTGCCGAAATCATGAGCATGT
CAATGTCAGCTGGTGTTTTGTGTGCTCAGAAGGAGGCAGCCTGCTGTGCTGCGATTCTTGTCCTGCTGCTTTTCATCGTGAATGCCTAAATATTGATATCCCTGAAGGAAACTGGTATTGCAATGACT
GTAAGGCAGGCAAAAAGCCACACTACAGGGAAATTGTATGGGTAAAAGTTGGACGATACAGGTGGTGGCCAGCTGAGATCTGCCATCCTCGAGCTATTCCTTCCAACATTGATAAAATGAGACATGAT
GTAGGCGAGTTCCCTGTTCTCTTCTTTGGATCCAATGACTATCTGTGGACTCACCAGGCTCGAGTCTTTCCTTACATGGAGGGGGATGTGAGCAGCAAGGATAAGATGGGCAAAGGAGTGGATGGAAC
ATATAAAAAAGCTCTTCAGGAAGCAGCAGCAAGATTTGAGGAGTTAAAGGCACAAAAAGAGCTAAGACAGCTGCAGGAAGATAGAAAAAATGACAAGAAGCCACCACCTTATAAACATATAAAGGTGA
ACCGTCCTATTGGCAGGGTGCAGATCTTCACTGCAGACTTATCGGAAATTCCCCGTTGCAATTGTAAAGCTACTGATGAAAACCCTTGTGGGATAGACTCTGAGTGCATCAACCGCATGCTGCTATAT
GAATGCCACCCCACAGTATGTCCTGCTGGAGGCCGCTGTCAAAACCAGTGTTTCAGTAAGCGCCAGTATCCAGAGGTTGAAATTTTCCGCACATTACAGAGGGGCTGGGGTCTACGGACAAAAACAGA
TATTAAAAAGGGTGAATTTGTGAATGAATATGTGGGTGAACTAATAGACGAAGAAGAATGCAGAGCTCGAATCCGTTATGCCCAAGAACATGATATTACTAATTTCTATATGCTCACCCTAGATAAAG
ACCGAATCATTGATGCTGGTCCCAAAGGAAACTATGCTCGGTTTATGAATCATTGCTGCCAGCCCAACTGTGAAACACAGAAGTGGTCTGTGAATGGAGATACCCGTGTCGGCCTTTTTGCCCTGAGT
GACATTAAAGCAGGCACTGAACTTACCTTCAATTACAACCTAGAATGTCTTGGGAATGGAAAAACTGTTTGCAAATGTGGAGCTCCAAACTGCAGTGGCTTCTTGGGTGTCAGGCCAAAGAATCAACC
CATTGCCACAGAAGAAAAGTCAAAAAAATTCAAGAAGAAACAACAGGGGAAGCGCAGAAGCCAGGGTGAAATCACAAAAGAACGAGAGGATGAATGTTTCAGCTGTGGGGATGCCGGCCAGCTGGTCT
CCTGCAAGAAACCAGGCTGCCCCAAAGTTTACCATGCAGACTGTCTCAATCTGACCAAGCGACCAGCAGGGAAGTGGGAGTGTCCTTGGCACCAGTGTGACGTCTGTGGGAAGGAAGCAGCCTCCTTC
TGTGAGATGTGCCCCAGTTCATTCTGCAAGCAACATCGGGAAGGGATGCTCTTCATTTCCAAACTCGATGGGCGTCTCTCTTGTACTGAGCATGATCCCTGTGGGCCCAACCCTCTGGAACCTGGGGA
GATCCGTGAGTATGTGCCTCCCTCAGTGCCGCTGCCTCCAAGCCCCAGTACTCACCTGGCAGAACAATCATCAGGAATGGCTGCTCAGGGTCCCAAGATGTCAGATAAACCACCTGCTGATGCCAACC
AGACGTTGCCACTCTCCAAAAAAGCTCTGGCAGGGACTTGTCAGAGGCCACTGCTACCTGAAAGACCTCTGGAGAGAAGTGACTCCAGCTCCCAGCTTTTAGATAGGGTCAGAGACCTTGCTGGGTCA
GGGACCAAATCGCAATCCTTATCAAACCAGAGGCCGCTGGACAGGCCATCTGCAGTGGAAGGACCAAGACCACAGCTATCTGACAAACCCTCTCCAGTGACCAGCCCAAGCTCCTCACCCTCAGTGAG
GTCTCAACCACTGGAAAGACCCCTGGGGATGGCTGACCCAAGGCTGGATAAATCTATAGGTGCTGCCAGCCCAAGGCCCCAGTCACTAGAGAAAAACCCAGCTCCCACAGGCCTGAGACTTCCGCCGC
CAGACAGACTGCTAATCACCAACAGTCCCAAACCCCAGACTTCTGACAGGCCCACAGACAAATCCCACACCTCTTTGGCTCAGAGACTTCCACCTCCTGAGAAAGTACTATCAGCTGTGGTACAGACC
CTGGTAGCTAAAGAAAAAGCACTGAGGCCTGTGGATCAGAACACTCAGTCAAAAAACAGAGCTGCTTTGGTGATGGATCTCATAGACTTAACTCCTCGCCAGAAAGAACAGGCTACTTCTCATGAGGT
CACACCGCAGGCTGATGAGAAGATGCCACTGTTGGAGTCAAGCTCATGGCCTGTTGGCAAAGGTCTGGGGCATGTGCCACGAGCTCTGGAGAAAGGAAGCATGTCAGATCCCCTTTTCCAACCACCTG
GGAAAACTGCAGCCCATTCTGAGCACACCTGGCAAGCTGTTAAATCACTCACCCAGGCCAGACTTCTTTCTCAGCCTCCTGCCAAGGCTTTTTTATATGAGTCAGCTACTCAGGCTTCAGGAAGAGCT
CCTGCAGGAGTTGAGCAGACCCCAGGGCCCCCGAGCCAACCTCCAGGCATGGTGAAGCAGGTGAAGCAGATGGCTGGAGGCCAGCATCTACCTGGACTTACTGCCAAAAGTGGCCAGTCCTTTAGGTC
TCTTGGCAAGGCTCCAACCTCCCTCCCCACTGAAGAGAAGAAGTTGCCAACCACAGAGCCGAGTCATTGGTCCCTGGGAAAAGCTTCGCCAGGGACAGGACTCTGGCCCATAGTGGCTGGACAGGCAC
TGGCACAGTCTTGCTGGTCTGCTGGGAGTACACAGACATTGGCACAGACTTGCTGGTCTATTGGAAGAGGGCAAGATCCCAAACGAGAGCAAAATACACTTCCAACTCTTAACCAGGCTCCTTCCAGT
CACAAGTGTGCAGAGTCAGAACAGAAATAATACCTGTAAATGTCACACGTCCAGACAAGCTGTACCCAGAGTACCATATGGGGAGGGGAATCTATGTTTCTTTCTTTTCCCCCTTTGAAAAATAGACC
TACCCCCAACACTCTTCCACTGTTACTCTTTCCTTGTATTCCAGTACTCAGAATTCTTGTGACATTAGCCAGTGGGGGTTTCTGGTTGTGTGAACCATGTATGGGAATTCAACCAGCCCCAGCCATGC
AGACAGACAGACTTGCATCTCTTTCCCCCAATTTTTACACACAGTCAACTTAAAATAAAAAGTCCACTCTGGAGTCAAGCATGGAATTCAATTCCGCTGGTCAAGCTGGAAAGTATAGGGGCTCTTAA
AGCTATTTCCCCAGCCTAGCAGAGCCTCACTGAGGGCACTCTATGAACTCTTGGGAGGAACCAGTGTTCATTCAGAATCAGTAGCAATTTTCTGAGCATTCATGTGTGCTAGGCTTAGGTTGGTCACT
GACAAAAACACAAGTACATAAAGCCTGATTCCTGTGAGCCTAACTTGCTGCCTAGGTTCCCAAGGTTCCCAAGACTGCTTTTAGGAACTTTTGACCTGGAAACTACAGGAAATATTGAGGGGCCTTGG
ATTTCCAGGGTTATTTTGAAATGTTCTGTGTGGCACCAGATGTGGCTGTGTTGAACAAGTGTCTCCTGCTTGTGGTGTGAGTGCGTATATATGTACACTGCATCTTCAAAACTCTGCTTTTGTAGATG
GAATGGTGCTGCATCAAGGCCAAGGAAGGGTTTTGGCTGAGGCAGGTGCTACTTTCATCTGCATTATGCCCAGTCTGCAGATTTGTCCTTGGAGAAGCAGCTGGTTTAGGAGGAGCTGGGCTCTATGA
GAATGTCGCTAGCTTTCTAGCAGTGAAGAGAATTGGCAAGCTTACTTTTTCTTTTCTATCAGTTTTCACATGAACCCATTCCCCCACGCCCGTTTTCTCAAAACACTCAGGTGCTTTCAGATTTCAGT
CTCAGGCAATGGACATAGGGAATCTCTGGCCAGCTGTGAGCCAGACACACTAACTTCCAGAACAGTGCTGGGCCCTAATGGAAAATTATTTCTGCCCTAGTCCTTTGTCTTTTTAATTGAACTAAGGG
AGTCCTCTTCACCACCTCCCTGAGATTTGCTGTGCTTTTTATGGAGAGCACTTGCCTGCTGACGTAGCTTAAAAGCCAGAACCTTTCCCTAAGACTGGAAGGAGAAAATGTTTGGAGCAGTGTCCAGT
CTAAGAGATGATTCCTCATTAACTGCTGATTATCTGTTACTGCTGCCCTGAGCTGGGGGACCCAAGGGCTGGGAAATCTATTGGTGCTACCCTGCCCTACCATTCACCCAGCTCGACCTGCCAACAGG
TAATACTGTTTGGCTAGTTCCTTCCCACTCACCCACCCCTCCTTTGTCCCTAAACCAACCAATCTCTCTGCTTTGCCAACTTAGCCAGAAGCTTTAGCCAACAGGCCACCTCTTGGCCCTAGTGTCTC
CTGGCCATTGTGTCAGTTACTGCTTTTACATTCTCAACAGGATTCTGTATCTTGTCCCAATTTTCTCCTAAGTTCCTACTAAGATTACATCACTTCCAAGGGGAAGGAACAGTAGTTGTTATAGAAGC
ATTTGCGCTTTATATAAAGATTGAAAATAGAAAAGGCTTTTTATTTCCCAAAGTCTATCTGTGGGGTTGAGATACTTGAACTCAGGCAGAGGGTTCAGGCTGGGCAGGGCTGTCCTGAGTTTAGAGCC
TATCCCTGCATTTCACTGAGACCTCAGAAAACCTGCCTAGTTCTTCCATTTCACCCTTTTTATCCTCTCTTCCACATCATCAGAGAAGGAAAAGCTATTTGTTCAAAAGGAAGAGAAAAATATAAAGC
ATCTTATTTTCTTTTAAAAGAATTTTAAACCATGAAAAAGATATTTTTAAAGAAATTACCCAGAACATTAAAGTTCACTATATTAAGTATTTATCATGTGTGGAATAATAAGTATATAATTGCAGCTA
GTAGCCCCCTTCCCTAACCTCTTAGGTTGTGAGTAGGTTGCTTGGTGCCAGTCCTATGTGCCGTTTGCTCTCCTGTCATCTGTAGTTGTGATCAAAAAAATATCTGCACTGCACTATCAGAATCTCCT
TTCACTATGTTGTGTGTTCAATTATCTTATTAGCTTTGTTTCATGAAATAAACTGTGAATTTTTTTGGGGGGTGGGCATGCAGGCTTTGTAAAGTTTTAATTCTGAACTAGCTTCTCTGTAGTAGGCT
GTGGTAGGTGATTGACTTTGACAGCCATCTTAGAAATGTCTCACAGGTCAGGAGGGAAGTGAGGGATAGGGGGCTTTGATTGGCCACTTTGTGGTTTTGATTTGGCTCTTTCCATTCTTTACCATTTA
CTGGAGGCTTTGTTCCAGACCTGCCTAGGAAAACTTCGGAGCTGTGTACTTGGTTTTGGGTGACAGTTCTTTGAATGCAATGACAACCAGGCTTCTCTCCAGAACCACTGACTCAGGGTGTTGAATGG
AAATTAGAAAGTCAAGCCATTGGGCGCACTGTGGTAGCATGAATGCAGTTACTATCCAGTTAGAAGCAGTCAGCACAACTGCTGGGAAATGACTCACATATGAAGGTGGGAAGAGGGTGACCCATCAG
CCTTTTTGGACTTCTGAAGCCTGCAATGAGACCTTTTCTTCAAGGGGGTGTGGACTGGCAGTAAATCTTTTTATTTTAGAAACTTCTGATAATTGTGCAGGATGGTATTTTATTGTTTGGTATTTGGC
TCAATACTTGGAAGATAAGTTCTCAAGAGAGTCTGTTTATGAGCCAGTTTCCCAGGAAGCCTTTTTGAGGAGCAAGCCAAAGATGGAAATGCTCCTTATGAAGCTAGAAAATTAATACCCGAGTCCTG
ATAAATCAGGAAAAAAAATTATGGAAACTGCTGAAATTTGTATTCAAAGTCTCATGTTTCTCCTGCAGGAACTAACTCATTCTAATATAAAACCTGTCATTGCCACAAAAGCATCCATGATTTTAGAT
GCTTGCTTTTCTCTAAAGTTACTGAGTTTGAGATTACTTAAATCACTGTTGATCGTCTTCTGAGCCAAATTTACCTCTTTGGCATTCATGAATTATTCTTCAAATCCTCCACTCCACACTGTAGTCAA
GGTATCGAGTGTACACGCAGTCCTTCCTGATTTGCCATCATGTGCTCATGAAGCTGGAGTCCCAAATTGTATTAATGTTGCCTTGTGAGAACTAGCGAGCAGGAAGGAGCACTGATCTTCGTGAAAAA
CAATTGAGAGCATTAAATTTGGTATGTTTTACTAGTAGCTCCTATAGGGCAGGTTTTCTCCTAAGGCTTGGGACATTGTCAACCTCTTAGGGTTTGTCACCAGGTCAGAGGGGCCCAGTGGCCTAACC
TCCAAGACCATGGCAGGAAAGGCATTGCTTCAGTCCTTTTTCCTGCTGAGTAAAATTTGACTTCTCATGTGTTAAGACATTCCACATCATTTAGAGCTAGGTAGCTGCTGTGGGAGCTCCCCTTGCCT
GTGGCCATTTAGCTTTCAGCTGAACATCCTAGGCCAGTACAGCAGGGCCAGAGATTGCTATAGTGTAAGTTGAAATAATGAATAGATAACTGCTTTGTGTATACACGCACACATACACACACACACAC
ACACACACAATGATGGTGCTAATTTCATTATATAGATAAGCACTGCCAAGGGTTGAGGGACTGGTGACTTTACTTGGGTTCCTATTTGCCGGGTAAGAGATTTCACACAAGGTTTCTTTGAGGCCCTA
TGAGAAGTAGGGAGAAGGCAACACCTCTGTGAAGCCTGTACTCAACCCTGGAGTGGTCCCATGCAAACCAGAGGTGGAAGAGATCCTGTGACTAGTTGAAGGTGGTCATTGAGTTTTTCAGGGCTGGG
GTCACTTCACCAGAAACAGGCTGGTAGAGAGCTCTGGGTCTCCCTCCATTACCTTCTGCCCCTCTACCTCGTCTCTCATGGAAGCATCTCTGTTGCTTATGAAGATTAAGGGTAATACTTTTTAAGGA
AATGGAAAGAGTTTACTTAGAAATCTACAGACTCAGAAGAAATCTCTTGCCAACATAAGCAGAACAGCACATACTAAATTCTTCTGTGGTCCTTTCCCTAGAGTTGCCTTCTCATGACTCTTTAAGAA
TCAGGCTATGAGGGGCCCTGGAACAGCACCTGGGGGTTCAGTAAAGCTCTGTAGACAGAAGCAAACACAGGGAGCAGAGCAGAAACGAACAGTCCCGGTACATTAGGCTCCAGGCTAGGTGGAGCAGG
TAGTCTCCCAGCTTGAGGTGGTGCTGCTTATGTGTGTATGTAGGTGTGTGGAAGATGACGAGTGCAGCACGCAGGAGCTTGTGGAAGAGCAGCTTTCTAGGTCTTGGCAAAGAAACAAGCTGACATGA
GAGGTCTGTTTTTATATTTTTAAGAAAGGGGAGGGGCAGGGGATCCAGCCAAGGCCCATCACTGTTGCCTCCCCCGACCCTGCCCTGTCCCTTCAGACTGTCAGCTGGAAGTGAAACTCCTAGTGAAA
AGAGGGGAACCCTGTGCTAGGAGTCCCCATAAACATGTACTGTAATTCTTTGTATATATAAAAAAAATACTGTAAAGTAAAGTTTAACTTTACTCTTA

hide sequence


Protein RefSeqs	XP_013365191	(Get FASTA)	NCBI Sequence Viewer
	XP_013365193	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSCLAP00000019677.1
	ENSCLAP00000019678
	ENSCLAP00000019678.1
	ENSCLAP00000019679
	ENSCLAP00000019679.1

RefSeq Acc Id:	XP_013365191 ⟸ XM_013509737
- Peptide Label:	isoform X1
- UniProtKB:	A0A8C2VW26 (UniProtKB/TrEMBL)
- Sequence:	show sequence MDQTCELSRRNCLLPFSNPVNLDAPEDKDSPFGNGQSNFSEPLNGCTMQLSTASGTSQNAYGQDSPSCYIPLRRLQDLASMINVEYLNGSADGSESFQDPEKSDSRAQSPVVCTSLSPGGPTALPMKQ EPSCNNSPELQLKVTKTIKNGFLHFENFTCVDDADIDSEMDPEQPVTEDESIEEIFEDTQTNATCKYEPKSENDVEVAMGSEQDSTSESSHGAVKSPFLPLAPQTETQKNKQRDEVDGSNEKAALLPA PFSLGDTNITIEEQLNSINLSFQDDPDSSTSTLGNMLELPGTSSSSTSQELPFCQPKKKSAPLKYEVGDLIWAKFKRRPWWPCRICSDPLINTHSKMKVANRRPYREYYVEAFGDPSERAWVAGKAIV MFEGRHQFEELPVLRKRGKQKEKGYRHKVPQKILSKWEASVGLAEQYDVPKGSRNRKCVTSSIKLDSEEDMPFEDCTNDPESEHDLLLNGCLKSLAFDSEHSADEKEKPPAKSRTRKSSDNLKRTSVK KGLMQFETHKEEWRGKTPENLSLNFISGDVSDNQASNELSRIANSLSGSSTSPGSFLFASCGKNTAKKEFETSNCDGLLGLSEGALISKRSGEKKRGLVCNSKVQLCYVGAGDEEKRSDSISICTTSD DGSSDLDPIEHSSESDNSVLEITDTFDRTENVLPVQKNEKMKYSRYPDTNTRVKAKSKPFIANSHTDHLLACKTAEPGTETSQVNLSDLKVSTFVQKSHSDFRNDNLSPKFNTPNISSENSLMKSGAT HQGLLHSKNKQPKFRNIKCKHKENPVMVESQVINEDCSLRCCSSDSKGSALASISKSGKVDGLKLLNNMHEKTRDSSDIETAVVKHVLSELKELSYRSLSDDVSDSGTPKPSKPLLFSSTSSQNHMPI EPDYKFSTLLMMLKDMHDSKTKEQRLMTGQNLVSYRSPARGDCSTSSPVGASKVLVSGGSTHNAEKNGDGTQDSARPCPNGSDSALSGELSASLPDLVSNRRDFPPGKSRSNCVSRRNCGRSKLSPKM RDAFSVQIAKNTVNRKTLKTEKTLKTERKRKLNRLPALTLPGTTQGDKGSGASVNSPSRNRAADPPKEEPLQLMDHLASEDVHFSDVHFDNKIKQSDPDKISEKGSTFENSKGPMLDSEMNSEHDEPS TGISQVVPKKRWQRVNQRRTKPGKRTNRFREKENSEGAFGVFPPGEPIEKGHNNFSEHRAPPPSTDTLEDSLTTPNHVSHLDSVGPRLNVCDKSSTSMENMEKEPGIPNLTPQAELPEPAVRSEKKRL RKPSKWLLEYTEEYDQIFAPKKKQKKVQEQAHKVSSRCEEESLLSRCQSGNQNKQVDENSFISTKEEPPVLEREAPFLEGPLAQSELGVGHAELPQLTLSVPMAPEVSPRPALESEDMIVKTPGNYES KRQRKPTKKLLESNDLDPGFMPKKGDIGFSKKCYEGGHLENGITESCTVSHLKEFRKGMTKMFDKPRKRKRQRHVTPKVQCKRVKNGDSSKETPGLEGELMTHRTAASPKENIEEGIEHDAGMSSSKR MQSERGGGAALKENVCQNCEKVGELLLCEAQCCGAFHLECLGLTEMPRGKFICNECRTGIHTCFVCKQSGEDVKRCLLPLCGKFYHEDCVQKYPPTVMQNKGFRCSLHICITCHAANPASVSASKGRL MRCVRCPVAYHANDFCLAAGSKILASNSIICPNHFTPRRGCRNHEHVNVSWCFVCSEGGSLLCCDSCPAAFHRECLNIDIPEGNWYCNDCKAGKKPHYREIVWVKVGRYRWWPAEICHPRAIPSNIDK MRHDVGEFPVLFFGSNDYLWTHQARVFPYMEGDVSSKDKMGKGVDGTYKKALQEAAARFEELKAQKELRQLQEDRKNDKKPPPYKHIKVNRPIGRVQIFTADLSEIPRCNCKATDENPCGIDSECINR MLLYECHPTVCPAGGRCQNQCFSKRQYPEVEIFRTLQRGWGLRTKTDIKKGEFVNEYVGELIDEEECRARIRYAQEHDITNFYMLTLDKDRIIDAGPKGNYARFMNHCCQPNCETQKWSVNGDTRVGL FALSDIKAGTELTFNYNLECLGNGKTVCKCGAPNCSGFLGVRPKNQPIATEEKSKKFKKKQQGKRRSQGEITKEREDECFSCGDAGQLVSCKKPGCPKVYHADCLNLTKRPAGKWECPWHQCDVCGKE AASFCEMCPSSFCKQHREGMLFISKLDGRLSCTEHDPCGPNPLEPGEIREYVPPSVPLPPSPSTHLAEQSSGMAAQGPKMSDKPPADANQTLPLSKKALAGTCQRPLLPERPLERSDSSSQLLDRVRD LAGSGTKSQSLSNQRPLDRPSAVEGPRPQLSDKPSPVTSPSSSPSVRSQPLERPLGMADPRLDKSIGAASPRPQSLEKNPAPTGLRLPPPDRLLITNSPKPQTSDRPTDKSHTSLAQRLPPPEKVLSA VVQTLVAKEKALRPVDQNTQSKNRAALVMDLIDLTPRQKEQATSHEVTPQADEKMPLLESSSWPVGKGLGHVPRALEKGSMSDPLFQPPGKTAAHSEHTWQAVKSLTQARLLSQPPAKAFLYESATQA SGRAPAGVEQTPGPPSQPPGMVKQVKQMAGGQHLPGLTAKSGQSFRSLGKAPTSLPTEEKKLPTTEPSHWSLGKASPGTGLWPIVAGQALAQSCWSAGSTQTLAQTCWSIGRGQDPKREQNTLPTLNQ APSSHKCAESEQK hide sequence

RefSeq Acc Id:	XP_013365193 ⟸ XM_013509739
- Peptide Label:	isoform X2
- UniProtKB:	A0A8C2VYW5 (UniProtKB/TrEMBL)
- Sequence:	show sequence MPLKTRTALSDDPDSSTSTLGNMLELPGTSSSSTSQELPFCQPKKKSAPLKYEVGDLIWAKFKR RPWWPCRICSDPLINTHSKMKVANRRPYREYYVEAFGDPSERAWVAGKAIVMFEGRHQFEELPVLRKRGKQKEKGYRHKVPQKILSKWEASVGLAEQYDVPKGSRNRKCVTSSIKLDSEEDMPFEDCT NDPESEHDLLLNGCLKSLAFDSEHSADEKEKPPAKSRTRKSSDNLKRTSVKKGLMQFETHKEEWRGKTPENLSLNFISGDVSDNQASNELSRIANSLSGSSTSPGSFLFASCGKNTAKKEFETSNCDG LLGLSEGALISKRSGEKKRGLVCNSKVQLCYVGAGDEEKRSDSISICTTSDDGSSDLDPIEHSSESDNSVLEITDTFDRTENVLPVQKNEKMKYSRYPDTNTRVKAKSKPFIANSHTDHLLACKTAEP GTETSQVNLSDLKVSTFVQKSHSDFRNDNLSPKFNTPNISSENSLMKSGATHQGLLHSKNKQPKFRNIKCKHKENPVMVESQVINEDCSLRCCSSDSKGSALASISKSGKVDGLKLLNNMHEKTRDSS DIETAVVKHVLSELKELSYRSLSDDVSDSGTPKPSKPLLFSSTSSQNHMPIEPDYKFSTLLMMLKDMHDSKTKEQRLMTGQNLVSYRSPARGDCSTSSPVGASKVLVSGGSTHNAEKNGDGTQDSARP CPNGSDSALSGELSASLPDLVSNRRDFPPGKSRSNCVSRRNCGRSKLSPKMRDAFSVQIAKNTVNRKTLKTEKTLKTERKRKLNRLPALTLPGTTQGDKGSGASVNSPSRNRAADPPKEEPLQLMDHL ASEDVHFSDVHFDNKIKQSDPDKISEKGSTFENSKGPMLDSEMNSEHDEPSTGISQVVPKKRWQRVNQRRTKPGKRTNRFREKENSEGAFGVFPPGEPIEKGHNNFSEHRAPPPSTDTLEDSLTTPNH VSHLDSVGPRLNVCDKSSTSMENMEKEPGIPNLTPQAELPEPAVRSEKKRLRKPSKWLLEYTEEYDQIFAPKKKQKKVQEQAHKVSSRCEEESLLSRCQSGNQNKQVDENSFISTKEEPPVLEREAPF LEGPLAQSELGVGHAELPQLTLSVPMAPEVSPRPALESEDMIVKTPGNYESKRQRKPTKKLLESNDLDPGFMPKKGDIGFSKKCYEGGHLENGITESCTVSHLKEFRKGMTKMFDKPRKRKRQRHVTP KVQCKRVKNGDSSKETPGLEGELMTHRTAASPKENIEEGIEHDAGMSSSKRMQSERGGGAALKENVCQNCEKVGELLLCEAQCCGAFHLECLGLTEMPRGKFICNECRTGIHTCFVCKQSGEDVKRCL LPLCGKFYHEDCVQKYPPTVMQNKGFRCSLHICITCHAANPASVSASKGRLMRCVRCPVAYHANDFCLAAGSKILASNSIICPNHFTPRRGCRNHEHVNVSWCFVCSEGGSLLCCDSCPAAFHRECLN IDIPEGNWYCNDCKAGKKPHYREIVWVKVGRYRWWPAEICHPRAIPSNIDKMRHDVGEFPVLFFGSNDYLWTHQARVFPYMEGDVSSKDKMGKGVDGTYKKALQEAAARFEELKAQKELRQLQEDRKN DKKPPPYKHIKVNRPIGRVQIFTADLSEIPRCNCKATDENPCGIDSECINRMLLYECHPTVCPAGGRCQNQCFSKRQYPEVEIFRTLQRGWGLRTKTDIKKGEFVNEYVGELIDEEECRARIRYAQEH DITNFYMLTLDKDRIIDAGPKGNYARFMNHCCQPNCETQKWSVNGDTRVGLFALSDIKAGTELTFNYNLECLGNGKTVCKCGAPNCSGFLGVRPKNQPIATEEKSKKFKKKQQGKRRSQGEITKERED ECFSCGDAGQLVSCKKPGCPKVYHADCLNLTKRPAGKWECPWHQCDVCGKEAASFCEMCPSSFCKQHREGMLFISKLDGRLSCTEHDPCGPNPLEPGEIREYVPPSVPLPPSPSTHLAEQSSGMAAQG PKMSDKPPADANQTLPLSKKALAGTCQRPLLPERPLERSDSSSQLLDRVRDLAGSGTKSQSLSNQRPLDRPSAVEGPRPQLSDKPSPVTSPSSSPSVRSQPLERPLGMADPRLDKSIGAASPRPQSLE KNPAPTGLRLPPPDRLLITNSPKPQTSDRPTDKSHTSLAQRLPPPEKVLSAVVQTLVAKEKALRPVDQNTQSKNRAALVMDLIDLTPRQKEQATSHEVTPQADEKMPLLESSSWPVGKGLGHVPRALE KGSMSDPLFQPPGKTAAHSEHTWQAVKSLTQARLLSQPPAKAFLYESATQASGRAPAGVEQTPGPPSQPPGMVKQVKQMAGGQHLPGLTAKSGQSFRSLGKAPTSLPTEEKKLPTTEPSHWSLGKASP GTGLWPIVAGQALAQSCWSAGSTQTLAQTCWSIGRGQDPKREQNTLPTLNQAPSSHKCAESEQK hide sequence

Ensembl Acc Id:

ENSCLAP00000019679 ⟸ ENSCLAT00000019872

Ensembl Acc Id:

ENSCLAP00000019678 ⟸ ENSCLAT00000019871

Ensembl Acc Id:

ENSCLAP00000019677 ⟸ ENSCLAT00000019870

Protein Domains

AWS PHD-type Post-SET PWWP SET

Database	Acc Id	Source(s)
Ensembl Genes	ENSCLAG00000013501	Ensembl, ENTREZGENE, UniProtKB/TrEMBL
Ensembl Transcript	ENSCLAT00000019870.1	UniProtKB/TrEMBL
	ENSCLAT00000019871	ENTREZGENE
	ENSCLAT00000019871.1	UniProtKB/TrEMBL
	ENSCLAT00000019872	ENTREZGENE
	ENSCLAT00000019872.1	UniProtKB/TrEMBL
Gene3D-CATH	2.170.270.10	UniProtKB/TrEMBL
	2.30.30.140	UniProtKB/TrEMBL
	3.30.40.10	UniProtKB/TrEMBL
InterPro	AWS_dom	UniProtKB/TrEMBL
	C5HCH	UniProtKB/TrEMBL
	NSD_PHD	UniProtKB/TrEMBL
	PHD1_NSD1_2	UniProtKB/TrEMBL
	PHD2_NSD1	UniProtKB/TrEMBL
	PHD3_NSD1	UniProtKB/TrEMBL
	PHD4_NSD1	UniProtKB/TrEMBL
	PHD5_NSD1	UniProtKB/TrEMBL
	PHDvar_NSD	UniProtKB/TrEMBL
	Post-SET_dom	UniProtKB/TrEMBL
	PWWP_dom	UniProtKB/TrEMBL
	PWWP_NSD1_rpt2	UniProtKB/TrEMBL
	SET2_Histone-Lys_MeTrsfase	UniProtKB/TrEMBL
	SET_dom	UniProtKB/TrEMBL
	SET_dom_sf	UniProtKB/TrEMBL
	SET_NSD1	UniProtKB/TrEMBL
	Zinc_finger_PHD-type_CS	UniProtKB/TrEMBL
	Znf_FYVE_PHD	UniProtKB/TrEMBL
	Znf_PHD	UniProtKB/TrEMBL
	Znf_PHD-finger	UniProtKB/TrEMBL
	Znf_RING/FYVE/PHD	UniProtKB/TrEMBL
NCBI Gene	Nsd1	ENTREZGENE
PANTHER	SET DOMAIN PROTEINS	UniProtKB/TrEMBL
Pfam	AWS	UniProtKB/TrEMBL
	C5HCH	UniProtKB/TrEMBL
	NSD_PHD	UniProtKB/TrEMBL
	PHD	UniProtKB/TrEMBL
	PHD-1st_NSD	UniProtKB/TrEMBL
	PHDvar_NSD	UniProtKB/TrEMBL
	PWWP	UniProtKB/TrEMBL
	SET	UniProtKB/TrEMBL
PROSITE	AWS	UniProtKB/TrEMBL
	POST_SET	UniProtKB/TrEMBL
	PWWP	UniProtKB/TrEMBL
	SET	UniProtKB/TrEMBL
	ZF_PHD_1	UniProtKB/TrEMBL
	ZF_PHD_2	UniProtKB/TrEMBL
SMART	AWS	UniProtKB/TrEMBL
	PHD	UniProtKB/TrEMBL
	PostSET	UniProtKB/TrEMBL
	PWWP	UniProtKB/TrEMBL
	SET	UniProtKB/TrEMBL
Superfamily-SCOP	SSF57903	UniProtKB/TrEMBL
	SSF82199	UniProtKB/TrEMBL
	Tudor/PWWP/MBT	UniProtKB/TrEMBL
UniProt	A0A8C2VW26	ENTREZGENE, UniProtKB/TrEMBL
	A0A8C2VYW5	ENTREZGENE, UniProtKB/TrEMBL

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


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


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

Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

Imported Disease Annotations - OMIM

RGD Manual Annotations

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Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

Imported Disease Annotations - OMIM

RGD Manual Annotations