PUM3 (pumilio RNA binding family member 3)

Gene: PUM3 (pumilio RNA binding family member 3) Homo sapiens

Analyze

Symbol:

PUM3

Name:

pumilio RNA binding family member 3

RGD ID:

1318702

HGNC Page

HGNC:29676

Description:

Enables RNA binding activity. Predicted to be involved in regulation of translation. Located in chromosome; endoplasmic reticulum; and nuclear lumen.

Type:

protein-coding

RefSeq Status:

VALIDATED

Previously known as:

HA-8; HBV X-transactivated gene 5 protein; HBV XAg-transactivated protein 5; HLA-HA8; hPUF-A; KIAA0020; MGC8749; minor histocompatibility antigen HA-8; PEN; penguin homolog; protein 5 transactivated by hepatitis B virus X antigen (HBxAg); PUF-A; PUF6; pumilio domain-containing protein KIAA0020; pumilio homolog 3; pumilio RNA-binding family member 3; RP11-526D20.2; XTP5

RGD Orthologs

Alliance Genes

More Info

more info ...

More Info

Species	Gene symbol and name	Data Source	Assertion derived from	less info ...
Orthologs ¹				less info ...
Mus musculus (house mouse):	Pum3 (pumilio RNA-binding family member 3)	HGNC	EggNOG, Ensembl, HGNC, HomoloGene, NCBI, OMA, OrthoDB, OrthoMCL, Panther, Treefam
Rattus norvegicus (Norway rat):	Pum3 (pumilio RNA-binding family member 3)	HGNC	Ensembl, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Chinchilla lanigera (long-tailed chinchilla):	Pum3 (pumilio RNA binding family member 3)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	PUM3 (pumilio RNA binding family member 3)	NCBI	Ortholog
Canis lupus familiaris (dog):	PUM3 (pumilio RNA binding family member 3)	HGNC	EggNOG, Ensembl, HomoloGene, NCBI, OMA, OrthoDB, OrthoMCL, Panther, Treefam
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Pum3 (pumilio RNA binding family member 3)	NCBI	Ortholog
Sus scrofa (pig):	PUM3 (pumilio RNA binding family member 3)	HGNC	EggNOG, Ensembl, NCBI, OMA, OrthoDB, Panther, Treefam
Chlorocebus sabaeus (green monkey):	PUM3 (pumilio RNA binding family member 3)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Pum3 (pumilio RNA binding family member 3)	NCBI	Ortholog
Other homologs ²
Rattus norvegicus (Norway rat):	Pum3l1 (pumilio RNA-binding family member 3 like 1)	HGNC	Ensembl, OrthoDB, Panther
Rattus norvegicus (Norway rat):	Asap3 (ArfGAP with SH3 domain, ankyrin repeat and PH domain 3)	HGNC	OMA
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Pum3l1 (pumilio RNA-binding family member 3 like 1)	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Mus musculus (house mouse):	Pum3 (pumilio RNA-binding family member 3)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Rattus norvegicus (Norway rat):	Pum3 (pumilio RNA-binding family member 3)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Saccharomyces cerevisiae (baker's yeast):	PUF6	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB)
Drosophila melanogaster (fruit fly):	peng	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB)
Caenorhabditis elegans (roundworm):	puf-12	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Xenopus laevis (African clawed frog):	pum3.L	Alliance	DIOPT (Xenbase)
Xenopus tropicalis (tropical clawed frog):	pum3	Alliance	DIOPT (Ensembl Compara\|OMA\|OrthoFinder\|PANTHER\|PhylomeDB)
Xenopus laevis (African clawed frog):	pum3.S	Alliance	DIOPT (Xenbase)

Related Pseudogenes:

LOC100131689

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	9	2,804,152 - 2,844,095 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	9	2,720,469 - 2,844,095 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	9	2,804,152 - 2,844,095 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	9	2,794,152 - 2,834,130 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	9	2,794,163 - 2,828,505	NCBI
Celera	9	2,722,408 - 2,762,387 (-)	NCBI		Celera
Cytogenetic Map	9	p24.2	NCBI
HuRef	9	2,759,220 - 2,799,199 (-)	NCBI		HuRef
CHM1_1	9	2,804,479 - 2,844,443 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	9	2,807,740 - 2,847,894 (-)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

chromosome 9p deletion syndrome (IAGP)

genetic disease (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

(+)-schisandrin B (ISO)

1,2-dichloroethane (ISO)

1,2-dimethylhydrazine (ISO)

17beta-estradiol (EXP)

2,2',4,4'-Tetrabromodiphenyl ether (EXP)

2,4,6-tribromophenol (EXP)

3,3',5,5'-tetrabromobisphenol A (EXP)

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

all-trans-retinoic acid (EXP)

aristolochic acid A (EXP)

benzo[a]pyrene (EXP,ISO)

bisphenol A (EXP,ISO)

bisphenol F (EXP)

carbon nanotube (ISO)

chlorpyrifos (ISO)

chromium(6+) (ISO)

copper(II) sulfate (EXP)

cyclosporin A (EXP)

decabromodiphenyl ether (EXP)

dexamethasone (EXP)

dicrotophos (EXP)

diethylstilbestrol (EXP)

dioxygen (ISO)

doxorubicin (EXP)

endosulfan (ISO)

fenthion (ISO)

flutamide (ISO)

fulvestrant (EXP)

glafenine (ISO)

hydrogen peroxide (EXP)

indometacin (EXP)

menadione (EXP)

nefazodone (ISO)

nickel atom (EXP)

nickel sulfate (EXP)

paraquat (ISO)

parathion (ISO)

pentachlorophenol (ISO)

perfluorohexanesulfonic acid (ISO)

perfluorononanoic acid (EXP)

pirinixic acid (ISO)

resveratrol (EXP)

silicon dioxide (EXP)

tetrachloromethane (ISO)

thioacetamide (ISO)

trimellitic anhydride (ISO)

tungsten (ISO)

urethane (EXP)

valproic acid (EXP,ISO)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

regulation of translation (IBA,IEA)

Cellular Component

chromosome (IDA,IEA)

endoplasmic reticulum (IDA)

nucleolus (IBA,IDA,IEA)

nucleoplasm (IDA,IEA)

nucleus (IEA)

Molecular Function

DNA binding (IEA)

mRNA binding (IBA,IEA)

protein binding (IPI)

RNA binding (HDA,IEA)

References

References - curated

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

Additional References at PubMed

PMID:7584026	PMID:7584028	PMID:8125298	PMID:10942595	PMID:11148223	PMID:11790298	PMID:12135428	PMID:12429849	PMID:12477932	PMID:15164053	PMID:15489334	PMID:15635413
PMID:15840729	PMID:16169070	PMID:16344560	PMID:17558408	PMID:18029348	PMID:18093280	PMID:19454010	PMID:20353833	PMID:20813266	PMID:21145461	PMID:21244100	PMID:21266351
PMID:21873635	PMID:22586326	PMID:22658674	PMID:22681889	PMID:23251661	PMID:23414517	PMID:23480177	PMID:23720494	PMID:24058526	PMID:24457600	PMID:24711643	PMID:25281560
PMID:25512524	PMID:25544563	PMID:25665578	PMID:25693804	PMID:25921289	PMID:26186194	PMID:26344197	PMID:26496610	PMID:26725010	PMID:26949251	PMID:28302793	PMID:28514442
PMID:28695742	PMID:28977666	PMID:29298432	PMID:29395067	PMID:29467282	PMID:29478914	PMID:29509190	PMID:29568061	PMID:29911972	PMID:29955894	PMID:30404004	PMID:30462309
PMID:30833792	PMID:30948266	PMID:31180492	PMID:31527615	PMID:31586073	PMID:31665637	PMID:32344865	PMID:32460013	PMID:32694731	PMID:32707033	PMID:32807901	PMID:32838362
PMID:33060197	PMID:33961781	PMID:34079125	PMID:34244565	PMID:34407138	PMID:34591612	PMID:34662580	PMID:35013218	PMID:35140242	PMID:35271311	PMID:35384245	PMID:35509820
PMID:35819319	PMID:35850772	PMID:36089195	PMID:36215168	PMID:36244648	PMID:36373674	PMID:36424410	PMID:36526897	PMID:36537216	PMID:36912080	PMID:37689310	PMID:37827155
PMID:38113892	PMID:38172120

Genomics

Comparative Map Data

PUM3
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	9	2,804,152 - 2,844,095 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	9	2,720,469 - 2,844,095 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	9	2,804,152 - 2,844,095 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	9	2,794,152 - 2,834,130 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	9	2,794,163 - 2,828,505	NCBI
Celera	9	2,722,408 - 2,762,387 (-)	NCBI		Celera
Cytogenetic Map	9	p24.2	NCBI
HuRef	9	2,759,220 - 2,799,199 (-)	NCBI		HuRef
CHM1_1	9	2,804,479 - 2,844,443 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	9	2,807,740 - 2,847,894 (-)	NCBI		T2T-CHM13v2.0

Pum3
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	19	27,366,105 - 27,407,264 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	19	27,366,098 - 27,407,225 (-)	Ensembl		GRCm39 Ensembl
GRCm38	19	27,388,698 - 27,429,908 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	19	27,388,698 - 27,429,825 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	19	27,463,192 - 27,504,310 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	19	27,456,980 - 27,496,919 (-)	NCBI		MGSCv36	mm8
Celera	19	28,172,798 - 28,213,903 (-)	NCBI		Celera
Cytogenetic Map	19	C1	NCBI
cM Map	19	21.96	NCBI

Pum3
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	1	234,483,482 - 234,527,718 (-)	NCBI		GRCr8
mRatBN7.2	1	225,074,332 - 225,113,995 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	1	225,074,333 - 225,114,025 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	1	233,480,657 - 233,520,350 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	1	240,410,777 - 240,450,470 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	1	233,231,506 - 233,271,200 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	1	245,476,400 - 245,517,081 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	1	245,476,529 - 245,514,252 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	1	252,719,064 - 252,763,821 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	1	230,911,438 - 230,951,099 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
Celera	1	222,249,359 - 222,289,062 (-)	NCBI		Celera
Cytogenetic Map	1	q52	NCBI

Pum3
(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_004955434	7,198,558 - 7,245,324 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955434	7,208,319 - 7,245,324 (-)	NCBI	ChiLan1.0	ChiLan1.0

PUM3
(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	11	121,742,941 - 121,785,274 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	9	121,748,884 - 121,791,218 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	9	2,606,386 - 2,645,943 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	9	2,797,964 - 2,837,399 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	9	2,797,969 - 2,837,321 (-)	Ensembl	panpan1.1		panPan2

PUM3
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	1	91,391,619 - 91,436,378 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	1	91,391,627 - 91,436,310 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	1	91,859,463 - 91,898,703 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	1	91,937,938 - 91,977,212 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	1	91,937,941 - 91,982,635 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	1	91,583,552 - 91,623,040 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	1	91,295,645 - 91,334,897 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	1	92,070,321 - 92,109,573 (-)	NCBI		UU_Cfam_GSD_1.0

Pum3
(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_024404947	138,927,317 - 138,973,299 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936503	2,199,637 - 2,237,178 (+)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936503	2,199,766 - 2,237,171 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

PUM3
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	1	218,994,200 - 219,038,506 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	1	218,994,139 - 219,038,208 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	1	244,815,651 - 244,861,526 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

PUM3
(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	12	76,708,246 - 76,749,520 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	12	76,714,791 - 76,750,847 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666038	65,048,070 - 65,089,360 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Pum3
(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 1.0	NW_004624736	7,501,432 - 7,536,990 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in PUM3
43 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3	copy number gain	See cases [RCV000050357]	Chr9:204193..38815478 [GRCh38] Chr9:204193..38815475 [GRCh37] Chr9:194193..38805475 [NCBI36] Chr9:9p24.3-13.1	pathogenic\|conflicting interpretations of pathogenicity\|conflicting data from submitters
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	copy number gain	See cases [RCV000050348]	Chr9:193412..138179445 [GRCh38] Chr9:204193..141073897 [GRCh37] Chr9:194193..140193718 [NCBI36] Chr9:9p24.3-q34.3	pathogenic
GRCh38/hg38 9p24.3-23(chr9:204193-13974100)x1	copy number loss	See cases [RCV000050831]	Chr9:204193..13974100 [GRCh38] Chr9:204193..13974099 [GRCh37] Chr9:194193..13964099 [NCBI36] Chr9:9p24.3-23	pathogenic
GRCh38/hg38 9p24.3-23(chr9:1592306-12387899)x3	copy number gain	See cases [RCV000050612]	Chr9:1592306..12387899 [GRCh38] Chr9:1592306..12387899 [GRCh37] Chr9:1582306..12377899 [NCBI36] Chr9:9p24.3-23	pathogenic
GRCh38/hg38 9p24.3-24.2(chr9:220253-3793376)x1	copy number loss	See cases [RCV000051039]	Chr9:220253..3793376 [GRCh38] Chr9:220253..3793376 [GRCh37] Chr9:210253..3783376 [NCBI36] Chr9:9p24.3-24.2	pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:204193-38741440)x3	copy number gain	See cases [RCV000051106]	Chr9:204193..38741440 [GRCh38] Chr9:204193..38741437 [GRCh37] Chr9:194193..38731437 [NCBI36] Chr9:9p24.3-13.1	pathogenic
GRCh38/hg38 9p24.3-24.2(chr9:1998911-2925112)x3	copy number gain	See cases [RCV000052217]	Chr9:1998911..2925112 [GRCh38] Chr9:1998911..2925112 [GRCh37] Chr9:1988911..2915112 [NCBI36] Chr9:9p24.3-24.2	uncertain significance
GRCh38/hg38 9p24.3-23(chr9:211087-13754567)x1	copy number loss	See cases [RCV000052856]	Chr9:211087..13754567 [GRCh38] Chr9:211087..13754566 [GRCh37] Chr9:201087..13744566 [NCBI36] Chr9:9p24.3-23	pathogenic
GRCh38/hg38 9p24.3-24.1(chr9:220253-6073001)x1	copy number loss	See cases [RCV000052858]	Chr9:220253..6073001 [GRCh38] Chr9:220253..6073001 [GRCh37] Chr9:210253..6063001 [NCBI36] Chr9:9p24.3-24.1	pathogenic
GRCh38/hg38 9p24.3-24.1(chr9:220253-5140455)x1	copy number loss	See cases [RCV000052859]	Chr9:220253..5140455 [GRCh38] Chr9:220253..5140455 [GRCh37] Chr9:210253..5130455 [NCBI36] Chr9:9p24.3-24.1	pathogenic
GRCh38/hg38 9p24.3-22.2(chr9:220253-18073359)x1	copy number loss	See cases [RCV000052860]	Chr9:220253..18073359 [GRCh38] Chr9:220253..18073357 [GRCh37] Chr9:210253..18063357 [NCBI36] Chr9:9p24.3-22.2	pathogenic
GRCh38/hg38 9p24.3-24.1(chr9:220253-6968724)x1	copy number loss	See cases [RCV000052861]	Chr9:220253..6968724 [GRCh38] Chr9:220253..6968724 [GRCh37] Chr9:210253..6958724 [NCBI36] Chr9:9p24.3-24.1	pathogenic
GRCh38/hg38 9p24.3-24.2(chr9:280255-3905421)x1	copy number loss	See cases [RCV000052862]	Chr9:280255..3905421 [GRCh38] Chr9:280255..3905421 [GRCh37] Chr9:270255..3895421 [NCBI36] Chr9:9p24.3-24.2	pathogenic
GRCh38/hg38 9p24.3-22.1(chr9:1242978-18957216)x1	copy number loss	See cases [RCV000052863]	Chr9:1242978..18957216 [GRCh38] Chr9:1242978..18957214 [GRCh37] Chr9:1232978..18947214 [NCBI36] Chr9:9p24.3-22.1	pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:203993-38815619)x3	copy number gain	See cases [RCV000053703]	Chr9:203993..38815619 [GRCh38] Chr9:203993..38815616 [GRCh37] Chr9:193993..38805616 [NCBI36] Chr9:9p24.3-13.1	pathogenic
GRCh38/hg38 9p24.3-21.3(chr9:204193-22086858)x3	copy number gain	See cases [RCV000053704]	Chr9:204193..22086858 [GRCh38] Chr9:204193..22086857 [GRCh37] Chr9:194193..22076857 [NCBI36] Chr9:9p24.3-21.3	pathogenic
GRCh38/hg38 9p24.3-24.2(chr9:204193-3468435)x3	copy number gain	See cases [RCV000053705]	Chr9:204193..3468435 [GRCh38] Chr9:204193..3468435 [GRCh37] Chr9:194193..3458435 [NCBI36] Chr9:9p24.3-24.2	pathogenic
GRCh38/hg38 9p24.3-13.3(chr9:204193-34599437)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053706]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053706]\|See cases [RCV000053706]	Chr9:204193..34599437 [GRCh38] Chr9:204193..34599435 [GRCh37] Chr9:194193..34589435 [NCBI36] Chr9:9p24.3-13.3	pathogenic
GRCh38/hg38 9p24.3-13.3(chr9:204193-33284638)x3	copy number gain	See cases [RCV000053707]	Chr9:204193..33284638 [GRCh38] Chr9:204193..33284636 [GRCh37] Chr9:194193..33274636 [NCBI36] Chr9:9p24.3-13.3	pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124532)x3	copy number gain	See cases [RCV000053745]	Chr9:193412..138124532 [GRCh38] Chr9:204193..141018984 [GRCh37] Chr9:194193..140138805 [NCBI36] Chr9:9p24.3-q34.3	pathogenic
GRCh38/hg38 9p24.3-24.2(chr9:203993-4164349)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054328]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054328]\|See cases [RCV000054328]	Chr9:203993..4164349 [GRCh38] Chr9:203993..4164349 [GRCh37] Chr9:193993..4154349 [NCBI36] Chr9:9p24.3-24.2	pathogenic
GRCh38/hg38 9p24.3-23(chr9:204193-10340779)x1	copy number loss	See cases [RCV000054331]	Chr9:204193..10340779 [GRCh38] Chr9:204193..10340779 [GRCh37] Chr9:194193..10330779 [NCBI36] Chr9:9p24.3-23	pathogenic
GRCh38/hg38 9p24.3-23(chr9:204193-12302772)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054332]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054332]\|See cases [RCV000054332]	Chr9:204193..12302772 [GRCh38] Chr9:204193..12302772 [GRCh37] Chr9:194193..12292772 [NCBI36] Chr9:9p24.3-23	pathogenic
GRCh38/hg38 9p24.3-23(chr9:204193-13276053)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054334]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054334]\|See cases [RCV000054334]	Chr9:204193..13276053 [GRCh38] Chr9:204193..13276052 [GRCh37] Chr9:194193..13266052 [NCBI36] Chr9:9p24.3-23	pathogenic
GRCh38/hg38 9p24.3-23(chr9:204193-9363321)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054336]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054336]\|See cases [RCV000054336]	Chr9:204193..9363321 [GRCh38] Chr9:204193..9363321 [GRCh37] Chr9:194193..9353321 [NCBI36] Chr9:9p24.3-23	pathogenic
GRCh38/hg38 9p24.3-23(chr9:204193-13454719)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054338]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054338]\|See cases [RCV000054338]	Chr9:204193..13454719 [GRCh38] Chr9:204193..13454718 [GRCh37] Chr9:194193..13444718 [NCBI36] Chr9:9p24.3-23	pathogenic
GRCh38/hg38 9p24.3-24.1(chr9:211086-6106482)x1	copy number loss	See cases [RCV000054340]	Chr9:211086..6106482 [GRCh38] Chr9:211086..6106482 [GRCh37] Chr9:201086..6096482 [NCBI36] Chr9:9p24.3-24.1	pathogenic
GRCh38/hg38 9p24.3-23(chr9:211086-11867480)x1	copy number loss	See cases [RCV000054341]	Chr9:211086..11867480 [GRCh38] Chr9:211086..11867480 [GRCh37] Chr9:201086..11857480 [NCBI36] Chr9:9p24.3-23	pathogenic
GRCh38/hg38 9p24.3-22.3(chr9:111216-14650762)x1	copy number loss	See cases [RCV000054315]	Chr9:111216..14650762 [GRCh38] Chr9:111216..14650760 [GRCh37] Chr9:101216..14640760 [NCBI36] Chr9:9p24.3-22.3	pathogenic
GRCh38/hg38 9p24.3-23(chr9:195399-11081440)x1	copy number loss	See cases [RCV000054316]	Chr9:195399..11081440 [GRCh38] Chr9:199707..11081440 [GRCh37] Chr9:182102..11071440 [NCBI36] Chr9:9p24.3-23	pathogenic
GRCh38/hg38 9p24.3-23(chr9:203993-13753101)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054317]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054317]\|See cases [RCV000054317]	Chr9:203993..13753101 [GRCh38] Chr9:203993..13753100 [GRCh37] Chr9:193993..13743100 [NCBI36] Chr9:9p24.3-23	pathogenic
GRCh38/hg38 9p24.3-23(chr9:203993-12621562)x1	copy number loss	See cases [RCV000054327]	Chr9:203993..12621562 [GRCh38] Chr9:203993..12621562 [GRCh37] Chr9:193993..12611562 [NCBI36] Chr9:9p24.3-23	pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	copy number gain	See cases [RCV000053746]	Chr9:193412..138114463 [GRCh38] Chr9:214367..141008915 [GRCh37] Chr9:204367..140128736 [NCBI36] Chr9:9p24.3-q34.3	pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:220253-38815419)x3	copy number gain	See cases [RCV000053747]	Chr9:220253..38815419 [GRCh38] Chr9:220253..38815416 [GRCh37] Chr9:210253..38805416 [NCBI36] Chr9:9p24.3-13.1	pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]\|See cases [RCV000053748]	Chr9:193412..138179445 [GRCh38] Chr9:266045..141073897 [GRCh37] Chr9:256045..140193718 [NCBI36] Chr9:9p24.3-q34.3	pathogenic
GRCh38/hg38 9p24.3-23(chr9:204193-10473327)x1	copy number loss	See cases [RCV000133873]	Chr9:204193..10473327 [GRCh38] Chr9:204193..10473327 [GRCh37] Chr9:194193..10463327 [NCBI36] Chr9:9p24.3-23	pathogenic
GRCh38/hg38 9p24.3-22.2(chr9:204193-18073359)x1	copy number loss	See cases [RCV000133825]	Chr9:204193..18073359 [GRCh38] Chr9:204193..18073357 [GRCh37] Chr9:194193..18063357 [NCBI36] Chr9:9p24.3-22.2	pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	copy number gain	See cases [RCV000133791]	Chr9:204193..138179445 [GRCh38] Chr9:204193..141073897 [GRCh37] Chr9:194193..140193718 [NCBI36] Chr9:9p24.3-q34.3	pathogenic
GRCh38/hg38 9p24.3-23(chr9:204193-10164955)x1	copy number loss	See cases [RCV000133728]	Chr9:204193..10164955 [GRCh38] Chr9:204193..10164955 [GRCh37] Chr9:194193..10154955 [NCBI36] Chr9:9p24.3-23	pathogenic
GRCh38/hg38 9p24.3-24.2(chr9:204193-4210335)x1	copy number loss	See cases [RCV000134138]	Chr9:204193..4210335 [GRCh38] Chr9:204193..4210335 [GRCh37] Chr9:194193..4200335 [NCBI36] Chr9:9p24.3-24.2	pathogenic
GRCh38/hg38 9p24.3-21.1(chr9:220257-29424848)x3	copy number gain	See cases [RCV000134037]	Chr9:220257..29424848 [GRCh38] Chr9:220257..29424846 [GRCh37] Chr9:210257..29414846 [NCBI36] Chr9:9p24.3-21.1	pathogenic
GRCh38/hg38 9p24.3-23(chr9:204090-13146846)x1	copy number loss	See cases [RCV000134126]	Chr9:204090..13146846 [GRCh38] Chr9:204090..13146845 [GRCh37] Chr9:194090..13136845 [NCBI36] Chr9:9p24.3-23	pathogenic
GRCh38/hg38 9p24.3-23(chr9:204193-11277770)x1	copy number loss	See cases [RCV000133923]	Chr9:204193..11277770 [GRCh38] Chr9:204193..11277770 [GRCh37] Chr9:194193..11267770 [NCBI36] Chr9:9p24.3-23	pathogenic
GRCh38/hg38 9p24.3-q21.11(chr9:13997-68401065)x3	copy number gain	See cases [RCV000135344]	Chr9:13997..68401065 [GRCh38] Chr9:13997..71015981 [GRCh37] Chr9:3997..70205801 [NCBI36] Chr9:9p24.3-q21.11	pathogenic
GRCh38/hg38 9p24.3-22.1(chr9:220253-18708805)x1	copy number loss	See cases [RCV000135660]	Chr9:220253..18708805 [GRCh38] Chr9:220253..18708803 [GRCh37] Chr9:210253..18698803 [NCBI36] Chr9:9p24.3-22.1	pathogenic
GRCh38/hg38 9p24.3-22.1(chr9:204104-18882281)x1	copy number loss	See cases [RCV000135694]	Chr9:204104..18882281 [GRCh38] Chr9:204104..18882279 [GRCh37] Chr9:194104..18872279 [NCBI36] Chr9:9p24.3-22.1	pathogenic
GRCh38/hg38 9p24.3-24.1(chr9:220253-8866675)x1	copy number loss	See cases [RCV000135434]	Chr9:220253..8866675 [GRCh38] Chr9:220253..8866675 [GRCh37] Chr9:210253..8856675 [NCBI36] Chr9:9p24.3-24.1	pathogenic
GRCh38/hg38 9p24.3-24.1(chr9:204193-6968724)x1	copy number loss	See cases [RCV000135544]	Chr9:204193..6968724 [GRCh38] Chr9:204193..6968724 [GRCh37] Chr9:194193..6958724 [NCBI36] Chr9:9p24.3-24.1	pathogenic
GRCh38/hg38 9p24.3-23(chr9:204193-10852686)x1	copy number loss	See cases [RCV000135563]	Chr9:204193..10852686 [GRCh38] Chr9:204193..10852686 [GRCh37] Chr9:194193..10842686 [NCBI36] Chr9:9p24.3-23	pathogenic
GRCh38/hg38 9p24.3-q21.12(chr9:193412-70630731)x3	copy number gain	See cases [RCV000136152]	Chr9:193412..70630731 [GRCh38] Chr9:220253..73245647 [GRCh37] Chr9:210253..72435467 [NCBI36] Chr9:9p24.3-q21.12	pathogenic
GRCh38/hg38 9p24.3-22.2(chr9:204193-16897580)x1	copy number loss	See cases [RCV000135968]	Chr9:204193..16897580 [GRCh38] Chr9:204193..16897578 [GRCh37] Chr9:194193..16887578 [NCBI36] Chr9:9p24.3-22.2	pathogenic
GRCh38/hg38 9p24.3-23(chr9:204104-11298187)x1	copy number loss	See cases [RCV000135935]	Chr9:204104..11298187 [GRCh38] Chr9:204104..11298187 [GRCh37] Chr9:194104..11288187 [NCBI36] Chr9:9p24.3-23	pathogenic
GRCh38/hg38 9p24.3-q21.13(chr9:193412-74615913)x3	copy number gain	See cases [RCV000135954]	Chr9:193412..74615913 [GRCh38] Chr9:204193..77230829 [GRCh37] Chr9:194193..76420649 [NCBI36] Chr9:9p24.3-q21.13	pathogenic
GRCh38/hg38 9p24.3-22.3(chr9:214367-16307944)x1	copy number loss	See cases [RCV000136859]	Chr9:214367..16307944 [GRCh38] Chr9:214367..16307942 [GRCh37] Chr9:204367..16297942 [NCBI36] Chr9:9p24.3-22.3	pathogenic
GRCh38/hg38 9p24.3-23(chr9:204193-11435662)x1	copy number loss	See cases [RCV000136966]	Chr9:204193..11435662 [GRCh38] Chr9:204193..11435662 [GRCh37] Chr9:194193..11425662 [NCBI36] Chr9:9p24.3-23	pathogenic
GRCh38/hg38 9p24.3-23(chr9:204104-14182668)x1	copy number loss	See cases [RCV000137669]	Chr9:204104..14182668 [GRCh38] Chr9:204104..14182667 [GRCh37] Chr9:194104..14172667 [NCBI36] Chr9:9p24.3-23	pathogenic
GRCh38/hg38 9p24.3-24.1(chr9:204104-8266492)x1	copy number loss	See cases [RCV000137455]	Chr9:204104..8266492 [GRCh38] Chr9:204104..8266492 [GRCh37] Chr9:194104..8256492 [NCBI36] Chr9:9p24.3-24.1	pathogenic
GRCh38/hg38 9p24.3-23(chr9:204104-11610300)x3	copy number gain	See cases [RCV000137382]	Chr9:204104..11610300 [GRCh38] Chr9:204104..11610300 [GRCh37] Chr9:194104..11600300 [NCBI36] Chr9:9p24.3-23	pathogenic
GRCh38/hg38 9p24.3-24.1(chr9:204104-5426099)x3	copy number gain	See cases [RCV000137339]	Chr9:204104..5426099 [GRCh38] Chr9:204104..5426099 [GRCh37] Chr9:194104..5416099 [NCBI36] Chr9:9p24.3-24.1	pathogenic
GRCh38/hg38 9p24.3-24.2(chr9:204104-3367760)x1	copy number loss	See cases [RCV000137259]	Chr9:204104..3367760 [GRCh38] Chr9:204104..3367760 [GRCh37] Chr9:194104..3357760 [NCBI36] Chr9:9p24.3-24.2	pathogenic
GRCh38/hg38 9p24.3-24.1(chr9:204104-5695507)x1	copy number loss	See cases [RCV000137376]	Chr9:204104..5695507 [GRCh38] Chr9:204104..5695507 [GRCh37] Chr9:194104..5685507 [NCBI36] Chr9:9p24.3-24.1	pathogenic
GRCh38/hg38 9p24.3-24.1(chr9:204104-5657733)x1	copy number loss	See cases [RCV000138118]	Chr9:204104..5657733 [GRCh38] Chr9:204104..5657733 [GRCh37] Chr9:194104..5647733 [NCBI36] Chr9:9p24.3-24.1	pathogenic
GRCh38/hg38 9p24.3-23(chr9:204104-10023901)x1	copy number loss	See cases [RCV000138119]	Chr9:204104..10023901 [GRCh38] Chr9:204104..10023901 [GRCh37] Chr9:194104..10013901 [NCBI36] Chr9:9p24.3-23	pathogenic
GRCh38/hg38 9p24.3-q21.11(chr9:204104-66233120)x4	copy number gain	See cases [RCV000137888]	Chr9:204104..66233120 [GRCh38] Chr9:204104..47212321 [GRCh37] Chr9:194104..47002141 [NCBI36] Chr9:9p24.3-q21.11	pathogenic\|conflicting data from submitters
GRCh38/hg38 9p24.3-24.1(chr9:204104-7133443)x1	copy number loss	See cases [RCV000137745]	Chr9:204104..7133443 [GRCh38] Chr9:204104..7133443 [GRCh37] Chr9:194104..7123443 [NCBI36] Chr9:9p24.3-24.1	pathogenic
GRCh38/hg38 9p24.3-24.2(chr9:204104-3755031)x1	copy number loss	See cases [RCV000137914]	Chr9:204104..3755031 [GRCh38] Chr9:204104..3755031 [GRCh37] Chr9:194104..3745031 [NCBI36] Chr9:9p24.3-24.2	pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	copy number gain	See cases [RCV000138783]	Chr9:193412..138124524 [GRCh38] Chr9:204090..141018976 [GRCh37] Chr9:194090..140138797 [NCBI36] Chr9:9p24.3-q34.3	pathogenic
GRCh38/hg38 9p24.3-21.3(chr9:459131-24207894)x3	copy number gain	See cases [RCV000138499]	Chr9:459131..24207894 [GRCh38] Chr9:459131..24207892 [GRCh37] Chr9:449131..24197892 [NCBI36] Chr9:9p24.3-21.3	pathogenic
GRCh38/hg38 9p24.2(chr9:2430846-2826706)x1	copy number loss	See cases [RCV000139326]	Chr9:2430846..2826706 [GRCh38] Chr9:2430846..2826706 [GRCh37] Chr9:2420846..2816706 [NCBI36] Chr9:9p24.2	likely benign
GRCh38/hg38 9p24.3-q21.11(chr9:204104-67549861)x3	copy number gain	See cases [RCV000139208]	Chr9:204104..67549861 [GRCh38] Chr9:204104..66516698 [GRCh37] Chr9:194104..66256518 [NCBI36] Chr9:9p24.3-q21.11	pathogenic
GRCh38/hg38 9p24.3-13.3(chr9:204104-34151476)x3	copy number gain	See cases [RCV000139015]	Chr9:204104..34151476 [GRCh38] Chr9:204104..34151474 [GRCh37] Chr9:194104..34141474 [NCBI36] Chr9:9p24.3-13.3	pathogenic\|likely benign
GRCh38/hg38 9p24.3-13.1(chr9:204104-38768294)x3	copy number gain	See cases [RCV000139126]	Chr9:204104..38768294 [GRCh38] Chr9:204104..38768291 [GRCh37] Chr9:194104..38758291 [NCBI36] Chr9:9p24.3-13.1	pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	copy number gain	See cases [RCV000138962]	Chr9:193412..138159073 [GRCh38] Chr9:204104..141053525 [GRCh37] Chr9:194104..140173346 [NCBI36] Chr9:9p24.3-q34.3	pathogenic\|conflicting data from submitters
GRCh38/hg38 9p24.3-24.1(chr9:204104-6322471)x1	copy number loss	See cases [RCV000140410]	Chr9:204104..6322471 [GRCh38] Chr9:204104..6322471 [GRCh37] Chr9:194104..6312471 [NCBI36] Chr9:9p24.3-24.1	pathogenic
GRCh38/hg38 9p24.3-23(chr9:204090-9282864)x1	copy number loss	See cases [RCV000139566]	Chr9:204090..9282864 [GRCh38] Chr9:204090..9282864 [GRCh37] Chr9:194090..9272864 [NCBI36] Chr9:9p24.3-23	pathogenic
GRCh38/hg38 9p24.3-21.2(chr9:204104-27963369)x3	copy number gain	See cases [RCV000139621]	Chr9:204104..27963369 [GRCh38] Chr9:204104..27963367 [GRCh37] Chr9:194104..27953367 [NCBI36] Chr9:9p24.3-21.2	pathogenic
GRCh38/hg38 9p24.3-24.1(chr9:185579-7635806)x1	copy number loss	See cases [RCV000141407]	Chr9:185579..7635806 [GRCh38] Chr9:185579..7635806 [GRCh37] Chr9:175579..7625806 [NCBI36] Chr9:9p24.3-24.1	pathogenic
GRCh38/hg38 9p24.3-23(chr9:211086-11457340)x1	copy number loss	See cases [RCV000141408]	Chr9:211086..11457340 [GRCh38] Chr9:211086..11457340 [GRCh37] Chr9:201086..11447340 [NCBI36] Chr9:9p24.3-23	pathogenic
GRCh38/hg38 9p24.3-24.1(chr9:211086-7444397)x1	copy number loss	See cases [RCV000140601]	Chr9:211086..7444397 [GRCh38] Chr9:211086..7444397 [GRCh37] Chr9:201086..7434397 [NCBI36] Chr9:9p24.3-24.1	pathogenic
GRCh38/hg38 9p24.3-24.2(chr9:1845513-3022547)x3	copy number gain	See cases [RCV000140756]	Chr9:1845513..3022547 [GRCh38] Chr9:1845513..3022547 [GRCh37] Chr9:1835513..3012547 [NCBI36] Chr9:9p24.3-24.2	uncertain significance
GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4	copy number gain	See cases [RCV000141904]	Chr9:203861..88130444 [GRCh38] Chr9:203861..90745359 [GRCh37] Chr9:193861..89935179 [NCBI36] Chr9:9p24.3-q22.1	pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	copy number gain	See cases [RCV000141876]	Chr9:203861..138125937 [GRCh38] Chr9:203861..141020389 [GRCh37] Chr9:193861..140140210 [NCBI36] Chr9:9p24.3-q34.3	pathogenic
GRCh38/hg38 9p24.3-21.1(chr9:203861-31423873)x4	copy number gain	See cases [RCV000141662]	Chr9:203861..31423873 [GRCh38] Chr9:203861..31423871 [GRCh37] Chr9:193861..31413871 [NCBI36] Chr9:9p24.3-21.1	pathogenic
GRCh38/hg38 9p24.3-22.3(chr9:322690-16401656)x1	copy number loss	See cases [RCV000141442]	Chr9:322690..16401656 [GRCh38] Chr9:322690..16401654 [GRCh37] Chr9:312690..16391654 [NCBI36] Chr9:9p24.3-22.3	pathogenic
GRCh38/hg38 9p24.3-24.2(chr9:203861-4585050)x1	copy number loss	See cases [RCV000142301]	Chr9:203861..4585050 [GRCh38] Chr9:203861..4585050 [GRCh37] Chr9:193861..4575050 [NCBI36] Chr9:9p24.3-24.2	pathogenic
GRCh38/hg38 9p24.3-24.1(chr9:203861-8172957)x1	copy number loss	See cases [RCV000142074]	Chr9:203861..8172957 [GRCh38] Chr9:203861..8172957 [GRCh37] Chr9:193861..8162957 [NCBI36] Chr9:9p24.3-24.1	pathogenic
GRCh38/hg38 9p24.3-24.1(chr9:204090-4970154)x3	copy number gain	See cases [RCV000142816]	Chr9:204090..4970154 [GRCh38] Chr9:204090..4970154 [GRCh37] Chr9:194090..4960154 [NCBI36] Chr9:9p24.3-24.1	pathogenic
GRCh38/hg38 9p24.3-22.3(chr9:204090-15260600)x1	copy number loss	See cases [RCV000142964]	Chr9:204090..15260600 [GRCh38] Chr9:204090..15260598 [GRCh37] Chr9:194090..15250598 [NCBI36] Chr9:9p24.3-22.3	pathogenic
GRCh38/hg38 9p24.3-q21.31(chr9:193412-79877816)x3	copy number gain	See cases [RCV000143012]	Chr9:193412..79877816 [GRCh38] Chr9:204104..82492731 [GRCh37] Chr9:194104..81682551 [NCBI36] Chr9:9p24.3-q21.31	pathogenic
GRCh38/hg38 9p24.3-24.1(chr9:220253-7733826)x1	copy number loss	See cases [RCV000142688]	Chr9:220253..7733826 [GRCh38] Chr9:220253..7733826 [GRCh37] Chr9:210253..7723826 [NCBI36] Chr9:9p24.3-24.1	pathogenic
GRCh38/hg38 9p24.3-24.2(chr9:266045-3346702)x1	copy number loss	See cases [RCV000142630]	Chr9:266045..3346702 [GRCh38] Chr9:266045..3346702 [GRCh37] Chr9:256045..3336702 [NCBI36] Chr9:9p24.3-24.2	pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:203861-38381642)	copy number gain	See cases [RCV000143411]	Chr9:203861..38381642 [GRCh38] Chr9:203861..38381639 [GRCh37] Chr9:193861..38371639 [NCBI36] Chr9:9p24.3-13.1	pathogenic
GRCh38/hg38 9p24.3-24.1(chr9:203861-5094461)x1	copy number loss	See cases [RCV000143637]	Chr9:203861..5094461 [GRCh38] Chr9:203861..5094461 [GRCh37] Chr9:193861..5084461 [NCBI36] Chr9:9p24.3-24.1	pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	copy number gain	See cases [RCV000143476]	Chr9:203862..138125937 [GRCh38] Chr9:203862..141020389 [GRCh37] Chr9:193862..140140210 [NCBI36] Chr9:9p24.3-q34.3	pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	copy number gain	See cases [RCV000148113]	Chr9:193412..138179445 [GRCh38] Chr9:204193..141073897 [GRCh37] Chr9:194193..140193718 [NCBI36] Chr9:9p24.3-q34.3	pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3	copy number gain	See cases [RCV000148159]	Chr9:204193..38815478 [GRCh38] Chr9:204193..38815475 [GRCh37] Chr9:194193..38805475 [NCBI36] Chr9:9p24.3-13.1	pathogenic
GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	copy number gain	See cases [RCV000139207]	Chr9:193412..138159073 [GRCh38] Chr9:68420641..141053525 [GRCh37] Chr9:67910461..140173346 [NCBI36] Chr9:9p11.2-q34.3	pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:163131-38763958)x3	copy number gain	See cases [RCV000240201]	Chr9:163131..38763958 [GRCh37] Chr9:9p24.3-13.1	pathogenic
GRCh37/hg19 9p24.3-23(chr9:13997-11376705)x1	copy number loss	See cases [RCV000239799]	Chr9:13997..11376705 [GRCh37] Chr9:9p24.3-23	pathogenic
GRCh37/hg19 9p24.3-11.2(chr9:213161-47212321)x4	copy number gain	See cases [RCV000240048]	Chr9:213161..47212321 [GRCh37] Chr9:9p24.3-11.2	pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3	copy number gain	See cases [RCV000240081]	Chr9:163131..141122114 [GRCh37] Chr9:9p24.3-q34.3	pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:213161-39092820)x3	copy number gain	See cases [RCV000239869]	Chr9:213161..39092820 [GRCh37] Chr9:9p24.3-13.1	pathogenic
GRCh37/hg19 9p24.3-22.1(chr9:213161-19450250)x3	copy number gain	See cases [RCV000240225]	Chr9:213161..19450250 [GRCh37] Chr9:9p24.3-22.1	pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-68188391)x4	copy number gain	See cases [RCV000449165]	Chr9:203861..68188391 [GRCh37] Chr9:9p24.3-q13	pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407)	copy number gain	See cases [RCV000449375]	Chr9:62525..141006407 [GRCh37] Chr9:9p24.3-q34.3	pathogenic
GRCh37/hg19 9p24.3-24.1(chr9:1232387-4611862)x1	copy number loss	See cases [RCV000446479]	Chr9:1232387..4611862 [GRCh37] Chr9:9p24.3-24.1	likely pathogenic
GRCh37/hg19 9p24.3-22.3(chr9:203861-15211277)x1	copy number loss	See cases [RCV000446597]	Chr9:203861..15211277 [GRCh37] Chr9:9p24.3-22.3	pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	copy number gain	not specified [RCV003986800]	Chr9:203861..141020389 [GRCh37] Chr9:9p24.3-q34.3	pathogenic
GRCh37/hg19 9p24.3-24.1(chr9:203861-5909152)x1	copy number loss	See cases [RCV000447358]	Chr9:203861..5909152 [GRCh37] Chr9:9p24.3-24.1	pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:32396-39140211)	copy number gain	See cases [RCV000447246]	Chr9:32396..39140211 [GRCh37] Chr9:9p24.3-13.1	pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-67983174)x4	copy number gain	See cases [RCV000446521]	Chr9:203861..67983174 [GRCh37] Chr9:9p24.3-q13	pathogenic
GRCh37/hg19 9p24.3-22.2(chr9:203861-16925108)x1	copy number loss	See cases [RCV000447415]	Chr9:203861..16925108 [GRCh37] Chr9:9p24.3-22.2	pathogenic
GRCh37/hg19 9p24.3-22.3(chr9:203861-14322268)x1	copy number loss	See cases [RCV000447144]	Chr9:203861..14322268 [GRCh37] Chr9:9p24.3-22.3	pathogenic
GRCh37/hg19 9p24.3-22.2(chr9:203861-16670878)x1	copy number loss	See cases [RCV000446566]	Chr9:203861..16670878 [GRCh37] Chr9:9p24.3-22.2	pathogenic
GRCh37/hg19 9p24.3-22.2(chr9:203861-16856907)x1	copy number loss	See cases [RCV000445963]	Chr9:203861..16856907 [GRCh37] Chr9:9p24.3-22.2	pathogenic
GRCh37/hg19 9p24.3-22.2(chr9:213161-17496750)x1	copy number loss	See cases [RCV000445998]	Chr9:213161..17496750 [GRCh37] Chr9:9p24.3-22.2	pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:13997-70919878)x4	copy number gain	See cases [RCV000448242]	Chr9:13997..70919878 [GRCh37] Chr9:9p24.3-q21.11	pathogenic
GRCh37/hg19 9p24.3-24.2(chr9:213161-3497920)x1	copy number loss	See cases [RCV000448791]	Chr9:213161..3497920 [GRCh37] Chr9:9p24.3-24.2	pathogenic
GRCh37/hg19 9p24.3-23(chr9:203861-11414732)x1	copy number loss	See cases [RCV000448147]	Chr9:203861..11414732 [GRCh37] Chr9:9p24.3-23	pathogenic
GRCh37/hg19 9p24.2(chr9:2478976-3189696)x1	copy number loss	See cases [RCV000448051]	Chr9:2478976..3189696 [GRCh37] Chr9:9p24.2	uncertain significance
GRCh37/hg19 9p24.3-24.1(chr9:203861-8735462)x1	copy number loss	See cases [RCV000448304]	Chr9:203861..8735462 [GRCh37] Chr9:9p24.3-24.1	pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:203861-69002883)x3	copy number gain	See cases [RCV000448569]	Chr9:203861..69002883 [GRCh37] Chr9:9p24.3-q21.11	pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203864-141020389)x3	copy number gain	See cases [RCV000448978]	Chr9:203864..141020389 [GRCh37] Chr9:9p24.3-q34.3	pathogenic
GRCh37/hg19 9p24.3-22.2(chr9:203861-17125893)x1	copy number loss	See cases [RCV000512122]	Chr9:203861..17125893 [GRCh37] Chr9:9p24.3-22.2	pathogenic
GRCh37/hg19 9p24.3-23(chr9:203861-13486759)x1	copy number loss	See cases [RCV000511432]	Chr9:203861..13486759 [GRCh37] Chr9:9p24.3-23	pathogenic
GRCh37/hg19 9p24.3-22.2(chr9:203861-17655298)x1	copy number loss	See cases [RCV000510944]	Chr9:203861..17655298 [GRCh37] Chr9:9p24.3-22.2	pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480)x3	copy number gain	See cases [RCV000510864]	Chr9:203861..38787480 [GRCh37] Chr9:9p24.3-13.1	pathogenic
GRCh37/hg19 9p24.3-23(chr9:203861-10700288)x3	copy number gain	See cases [RCV000510843]	Chr9:203861..10700288 [GRCh37] Chr9:9p24.3-23	likely pathogenic
NM_014878.5(PUM3):c.1240A>G (p.Thr414Ala)	single nucleotide variant	Inborn genetic diseases [RCV003240661]	Chr9:2820047 [GRCh38] Chr9:2820047 [GRCh37] Chr9:9p24.2	uncertain significance
NM_014878.5(PUM3):c.191G>A (p.Gly64Asp)	single nucleotide variant	Inborn genetic diseases [RCV003246509]	Chr9:2837293 [GRCh38] Chr9:2837293 [GRCh37] Chr9:9p24.2	uncertain significance
GRCh37/hg19 9p24.3-11.2(chr9:204193-44259464)x4	copy number gain	Syndromic hydrocephalus due to diffuse villous hyperplasia of choroid plexus [RCV000677299]	Chr9:204193..44259464 [GRCh37] Chr9:9p24.3-11.2	likely pathogenic
GRCh37/hg19 9p24.3-24.1(chr9:203861-5081516)x1	copy number loss	See cases [RCV000512311]	Chr9:203861..5081516 [GRCh37] Chr9:9p24.3-24.1	pathogenic
GRCh37/hg19 9p24.3-q21.33(chr9:203861-88189913)x3	copy number gain	See cases [RCV000512431]	Chr9:203861..88189913 [GRCh37] Chr9:9p24.3-q21.33	pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389)	copy number gain	See cases [RCV000512392]	Chr9:203862..141020389 [GRCh37] Chr9:9p24.3-q34.3	pathogenic
GRCh37/hg19 9p24.3-23(chr9:203861-11271239)x1	copy number loss	not provided [RCV000683167]	Chr9:203861..11271239 [GRCh37] Chr9:9p24.3-23	pathogenic
GRCh37/hg19 9p24.2(chr9:2689263-3073977)x3	copy number gain	not provided [RCV000683118]	Chr9:2689263..3073977 [GRCh37] Chr9:9p24.2	likely benign
GRCh37/hg19 9p24.3-24.1(chr9:203861-4959039)x1	copy number loss	not provided [RCV000683159]	Chr9:203861..4959039 [GRCh37] Chr9:9p24.3-24.1	pathogenic
GRCh37/hg19 9p24.3-23(chr9:203861-9306658)x1	copy number loss	not provided [RCV000683164]	Chr9:203861..9306658 [GRCh37] Chr9:9p24.3-23	pathogenic
GRCh37/hg19 9p24.3-24.1(chr9:203861-7007586)x1	copy number loss	not provided [RCV000683162]	Chr9:203861..7007586 [GRCh37] Chr9:9p24.3-24.1	pathogenic
GRCh37/hg19 9p24.3-23(chr9:203861-9924905)x1	copy number loss	not provided [RCV000683166]	Chr9:203861..9924905 [GRCh37] Chr9:9p24.3-23	pathogenic
GRCh37/hg19 9p24.3-22.3(chr9:203861-14744606)x1	copy number loss	not provided [RCV000683168]	Chr9:203861..14744606 [GRCh37] Chr9:9p24.3-22.3	pathogenic
GRCh37/hg19 9p24.3-21.3(chr9:203861-20653468)x3	copy number gain	not provided [RCV000683170]	Chr9:203861..20653468 [GRCh37] Chr9:9p24.3-21.3	pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480)x3	copy number gain	not provided [RCV000683172]	Chr9:203861..38787480 [GRCh37] Chr9:9p24.3-13.1	pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-68262804)x3,4	copy number gain	not provided [RCV000683174]	Chr9:203861..68262804 [GRCh37] Chr9:9p24.3-q13	pathogenic
GRCh37/hg19 9p24.3-21.2(chr9:203861-26397133)x3	copy number gain	not provided [RCV000683171]	Chr9:203861..26397133 [GRCh37] Chr9:9p24.3-21.2	pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-67983174)x4	copy number gain	not provided [RCV000683173]	Chr9:203861..67983174 [GRCh37] Chr9:9p24.3-q13	pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:203861-70985795)x4	copy number gain	not provided [RCV000683175]	Chr9:203861..70985795 [GRCh37] Chr9:9p24.3-q21.11	pathogenic
GRCh37/hg19 9p24.2(chr9:2492392-3216065)x3	copy number gain	not provided [RCV000683144]	Chr9:2492392..3216065 [GRCh37] Chr9:9p24.2	uncertain significance
GRCh37/hg19 9p24.2(chr9:2327913-3426358)x3	copy number gain	not provided [RCV000683151]	Chr9:2327913..3426358 [GRCh37] Chr9:9p24.2	uncertain significance
GRCh37/hg19 9p24.3-q21.12(chr9:203861-72717793)x3	copy number gain	not provided [RCV000683176]	Chr9:203861..72717793 [GRCh37] Chr9:9p24.3-q21.12	pathogenic
GRCh37/hg19 9p24.2(chr9:2506235-3216065)x3	copy number gain	not provided [RCV000683142]	Chr9:2506235..3216065 [GRCh37] Chr9:9p24.2	likely benign\|uncertain significance
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141122247)x3	copy number gain	not provided [RCV000748055]	Chr9:10590..141122247 [GRCh37] Chr9:9p24.3-q34.3	pathogenic
GRCh37/hg19 9p24.3-24.1(chr9:46587-5486856)x1	copy number loss	not provided [RCV000748059]	Chr9:46587..5486856 [GRCh37] Chr9:9p24.3-24.1	pathogenic
GRCh37/hg19 9p24.3-23(chr9:46587-12532584)x1	copy number loss	not provided [RCV000748060]	Chr9:46587..12532584 [GRCh37] Chr9:9p24.3-23	pathogenic
GRCh37/hg19 9p24.3-23(chr9:46587-13708607)x1	copy number loss	not provided [RCV000748061]	Chr9:46587..13708607 [GRCh37] Chr9:9p24.3-23	pathogenic
GRCh37/hg19 9p24.3-21.3(chr9:46587-22012051)x3	copy number gain	not provided [RCV000748062]	Chr9:46587..22012051 [GRCh37] Chr9:9p24.3-21.3	pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141107672)x3	copy number gain	not provided [RCV000748053]	Chr9:10590..141107672 [GRCh37] Chr9:9p24.3-q34.3	pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:46587-141066491)x3	copy number gain	not provided [RCV000748063]	Chr9:46587..141066491 [GRCh37] Chr9:9p24.3-q34.3	pathogenic
GRCh37/hg19 9p24.2(chr9:2804393-2837218)x3	copy number gain	not provided [RCV000748107]	Chr9:2804393..2837218 [GRCh37] Chr9:9p24.2	benign
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141114095)x2	copy number gain	not provided [RCV000748054]	Chr9:10590..141114095 [GRCh37] Chr9:9p24.3-q34.3	pathogenic
NM_014878.5(PUM3):c.1601C>T (p.Ala534Val)	single nucleotide variant	Inborn genetic diseases [RCV003245044]	Chr9:2811395 [GRCh38] Chr9:2811395 [GRCh37] Chr9:9p24.2	uncertain significance
NM_014878.5(PUM3):c.790A>G (p.Ile264Val)	single nucleotide variant	not provided [RCV000969556]	Chr9:2829836 [GRCh38] Chr9:2829836 [GRCh37] Chr9:9p24.2	benign
NM_014878.5(PUM3):c.1241C>G (p.Thr414Ser)	single nucleotide variant	not provided [RCV000949749]	Chr9:2820046 [GRCh38] Chr9:2820046 [GRCh37] Chr9:9p24.2	benign
GRCh37/hg19 9p24.3-13.1(chr9:214309-39156958)	copy number gain	not provided [RCV000767644]	Chr9:214309..39156958 [GRCh37] Chr9:9p24.3-13.1	pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:203861-38472979)x3	copy number gain	not provided [RCV000848175]	Chr9:203861..38472979 [GRCh37] Chr9:9p24.3-13.1	pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3	copy number gain	not provided [RCV000845900]	Chr9:203861..141020388 [GRCh37] Chr9:9p24.3-q34.3	pathogenic
GRCh37/hg19 9p24.3-23(chr9:203861-10283912)x1	copy number loss	See cases [RCV002285070]	Chr9:203861..10283912 [GRCh37] Chr9:9p24.3-23	pathogenic
NM_014878.5(PUM3):c.1519G>A (p.Ala507Thr)	single nucleotide variant	Inborn genetic diseases [RCV003270818]	Chr9:2811477 [GRCh38] Chr9:2811477 [GRCh37] Chr9:9p24.2	uncertain significance
GRCh37/hg19 9p24.3-23(chr9:203861-10666419)x1	copy number loss	not provided [RCV001006164]	Chr9:203861..10666419 [GRCh37] Chr9:9p24.3-23	pathogenic
GRCh37/hg19 9p24.3-24.2(chr9:203861-2978707)x1	copy number loss	not provided [RCV000849761]	Chr9:203861..2978707 [GRCh37] Chr9:9p24.3-24.2	pathogenic
GRCh37/hg19 9p24.2(chr9:2498024-3204202)x3	copy number gain	not provided [RCV000848944]	Chr9:2498024..3204202 [GRCh37] Chr9:9p24.2	uncertain significance
GRCh37/hg19 9p24.3-22.1(chr9:203861-19448473)x3	copy number gain	not provided [RCV000845664]	Chr9:203861..19448473 [GRCh37] Chr9:9p24.3-22.1	pathogenic
GRCh37/hg19 9p24.3-23(chr9:203861-11028975)x1	copy number loss	not provided [RCV000848089]	Chr9:203861..11028975 [GRCh37] Chr9:9p24.3-23	pathogenic
GRCh37/hg19 9p24.3-23(chr9:203861-11033228)x1	copy number loss	not provided [RCV000848063]	Chr9:203861..11033228 [GRCh37] Chr9:9p24.3-23	pathogenic
GRCh37/hg19 9p24.2(chr9:2330906-3419904)x3	copy number gain	not provided [RCV000847448]	Chr9:2330906..3419904 [GRCh37] Chr9:9p24.2	uncertain significance
GRCh37/hg19 9p24.3-24.2(chr9:2180509-3128422)x3	copy number gain	not provided [RCV000846846]	Chr9:2180509..3128422 [GRCh37] Chr9:9p24.3-24.2	uncertain significance
GRCh37/hg19 9p24.3-q13(chr9:203861-67986965)x3	copy number gain	not provided [RCV000845815]	Chr9:203861..67986965 [GRCh37] Chr9:9p24.3-q13	pathogenic
NM_014878.5(PUM3):c.410G>A (p.Arg137Gln)	single nucleotide variant	Inborn genetic diseases [RCV003272201]	Chr9:2834061 [GRCh38] Chr9:2834061 [GRCh37] Chr9:9p24.2	uncertain significance
NM_014878.5(PUM3):c.1474A>T (p.Ser492Cys)	single nucleotide variant	not provided [RCV000975202]	Chr9:2811522 [GRCh38] Chr9:2811522 [GRCh37] Chr9:9p24.2	benign
GRCh37/hg19 9p24.3-23(chr9:203861-14080419)x1	copy number loss	not provided [RCV001006166]	Chr9:203861..14080419 [GRCh37] Chr9:9p24.3-23	pathogenic
GRCh37/hg19 9p24.3-24.1(chr9:203862-5958840)x4	copy number gain	not provided [RCV002472665]	Chr9:203862..5958840 [GRCh37] Chr9:9p24.3-24.1	likely pathogenic
GRCh37/hg19 9p24.2(chr9:2683132-2847102)x1	copy number loss	not provided [RCV002472902]	Chr9:2683132..2847102 [GRCh37] Chr9:9p24.2	uncertain significance
GRCh37/hg19 9p24.3-22.2(chr9:203861-17789410)x1	copy number loss	not provided [RCV001006163]	Chr9:203861..17789410 [GRCh37] Chr9:9p24.3-22.2	pathogenic
GRCh37/hg19 9p24.3-23(chr9:203861-14103730)x1	copy number loss	not provided [RCV001006165]	Chr9:203861..14103730 [GRCh37] Chr9:9p24.3-23	pathogenic
GRCh37/hg19 9p24.2(chr9:2582103-2828969)x3	copy number gain	not provided [RCV001006186]	Chr9:2582103..2828969 [GRCh37] Chr9:9p24.2	uncertain significance
GRCh37/hg19 9p24.3-q21.11(chr9:203861-70984588)x3	copy number gain	not provided [RCV001006167]	Chr9:203861..70984588 [GRCh37] Chr9:9p24.3-q21.11	pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-67986965)	copy number gain	Tetrasomy 9p [RCV002280656]	Chr9:203861..67986965 [GRCh37] Chr9:9p24.3-q13	pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-68342786)	copy number gain	Bradycardia [RCV002280662]	Chr9:203861..68342786 [GRCh37] Chr9:9p24.3-q13	pathogenic
GRCh37/hg19 9p24.3-22.2(chr9:204193-18073357)x1	copy number loss	Chromosome 9p deletion syndrome [RCV001263225]	Chr9:204193..18073357 [GRCh37] Chr9:9p24.3-22.2	pathogenic
GRCh37/hg19 9p24.3-22.1(chr9:204193-18654812)	copy number loss	Trigonocephaly [RCV001352660]	Chr9:204193..18654812 [GRCh37] Chr9:9p24.3-22.1	pathogenic
NC_000009.11:g.(?_2029023)_(5300444_?)dup	duplication	not provided [RCV001346810]	Chr9:2029023..5300444 [GRCh37] Chr9:9p24.3-24.1	uncertain significance
Single allele	deletion	Chromosome 9p deletion syndrome [RCV002247737]	Chr9:203987..11602476 [GRCh38] Chr9:9p24.3-23	pathogenic
GRCh37/hg19 9p24.3-23(chr9:203861-9631665)	copy number loss	not specified [RCV002053811]	Chr9:203861..9631665 [GRCh37] Chr9:9p24.3-23	pathogenic
GRCh37/hg19 9p24.3-22.3(chr9:203861-14694074)	copy number loss	not specified [RCV002053815]	Chr9:203861..14694074 [GRCh37] Chr9:9p24.3-22.3	pathogenic
GRCh37/hg19 9p24.3-24.1(chr9:203861-5909152)	copy number loss	not specified [RCV002053808]	Chr9:203861..5909152 [GRCh37] Chr9:9p24.3-24.1	pathogenic
GRCh37/hg19 9p24.3-22.3(chr9:203861-15211277)	copy number loss	not specified [RCV002053816]	Chr9:203861..15211277 [GRCh37] Chr9:9p24.3-22.3	pathogenic
GRCh37/hg19 9p24.3-24.2(chr9:203861-4342995)	copy number gain	not specified [RCV002053807]	Chr9:203861..4342995 [GRCh37] Chr9:9p24.3-24.2	uncertain significance
GRCh37/hg19 9p24.3-24.1(chr9:203861-7759331)	copy number loss	not specified [RCV002053809]	Chr9:203861..7759331 [GRCh37] Chr9:9p24.3-24.1	pathogenic
GRCh37/hg19 9p24.3-24.1(chr9:203861-8735462)	copy number loss	not specified [RCV002053810]	Chr9:203861..8735462 [GRCh37] Chr9:9p24.3-24.1	pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389)	copy number gain	not specified [RCV002053823]	Chr9:353349..141020389 [GRCh37] Chr9:9p24.3-q34.3	pathogenic
GRCh37/hg19 9p24.3-22.2(chr9:203861-16856907)	copy number loss	not specified [RCV002053817]	Chr9:203861..16856907 [GRCh37] Chr9:9p24.3-22.2	pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:203861-69002883)	copy number gain	not specified [RCV002053819]	Chr9:203861..69002883 [GRCh37] Chr9:9p24.3-q21.11	pathogenic
GRCh37/hg19 9p24.3-24.2(chr9:203861-3226591)	copy number loss	not specified [RCV002053806]	Chr9:203861..3226591 [GRCh37] Chr9:9p24.3-24.2	pathogenic
GRCh37/hg19 9p24.3-24.2(chr9:1196289-4322298)	copy number gain	not specified [RCV002053828]	Chr9:1196289..4322298 [GRCh37] Chr9:9p24.3-24.2	uncertain significance
GRCh37/hg19 9p24.2(chr9:2630683-2841614)	copy number loss	not specified [RCV002053829]	Chr9:2630683..2841614 [GRCh37] Chr9:9p24.2	uncertain significance
GRCh37/hg19 9p24.3-23(chr9:203861-11414732)	copy number loss	not specified [RCV002053812]	Chr9:203861..11414732 [GRCh37] Chr9:9p24.3-23	pathogenic
GRCh37/hg19 9p24.3-22.3(chr9:203861-14322268)	copy number loss	not specified [RCV002053814]	Chr9:203861..14322268 [GRCh37] Chr9:9p24.3-22.3	pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480)	copy number gain	not specified [RCV002053818]	Chr9:203861..38787480 [GRCh37] Chr9:9p24.3-13.1	pathogenic
GRCh37/hg19 9p24.3-q21.32(chr9:203861-84155399)	copy number gain	not specified [RCV002053820]	Chr9:203861..84155399 [GRCh37] Chr9:9p24.3-q21.32	pathogenic
GRCh37/hg19 9p24.3-13.3(chr9:676264-33743670)	copy number gain	not specified [RCV002053827]	Chr9:676264..33743670 [GRCh37] Chr9:9p24.3-13.3	pathogenic
GRCh37/hg19 9p24.3-13.3(chr9:203861-35903398)x3	copy number gain	MISSED ABORTION [RCV002282974]	Chr9:203861..35903398 [GRCh37] Chr9:9p24.3-13.3	pathogenic
GRCh37/hg19 9p24.3-23(chr9:203861-12127088)	copy number loss	Chromosome 9p deletion syndrome [RCV002280766]	Chr9:203861..12127088 [GRCh37] Chr9:9p24.3-23	pathogenic
GRCh37/hg19 9p24.3-22.3(chr9:203861-15048247)x1	copy number loss	See cases [RCV002287555]	Chr9:203861..15048247 [GRCh37] Chr9:9p24.3-22.3	pathogenic
GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3	copy number gain	See cases [RCV002292402]	Chr9:203861..131603223 [GRCh37] Chr9:9p24.3-q34.11	pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:48827-39154913)x3	copy number gain	Syndromic anorectal malformation [RCV002286608]	Chr9:48827..39154913 [GRCh37] Chr9:9p24.3-13.1	likely pathogenic
GRCh37/hg19 9p24.3-23(chr9:203861-12570076)	copy number loss	Chromosome 9p deletion syndrome [RCV002280768]	Chr9:203861..12570076 [GRCh37] Chr9:9p24.3-23	pathogenic
GRCh37/hg19 9p24.3-24.1(chr9:203861-7959823)	copy number loss	Chromosome 9p deletion syndrome [RCV002280770]	Chr9:203861..7959823 [GRCh37] Chr9:9p24.3-24.1	pathogenic
GRCh37/hg19 9p24.2(chr9:2325086-3426358)x3	copy number gain	not provided [RCV002472906]	Chr9:2325086..3426358 [GRCh37] Chr9:9p24.2	uncertain significance
NM_014878.5(PUM3):c.161A>G (p.Glu54Gly)	single nucleotide variant	Inborn genetic diseases [RCV003307121]	Chr9:2837323 [GRCh38] Chr9:2837323 [GRCh37] Chr9:9p24.2	uncertain significance
NM_014878.5(PUM3):c.1768C>G (p.Leu590Val)	single nucleotide variant	Inborn genetic diseases [RCV002972840]	Chr9:2807860 [GRCh38] Chr9:2807860 [GRCh37] Chr9:9p24.2	uncertain significance
NM_014878.5(PUM3):c.1343C>G (p.Pro448Arg)	single nucleotide variant	Inborn genetic diseases [RCV002777724]	Chr9:2812289 [GRCh38] Chr9:2812289 [GRCh37] Chr9:9p24.2	uncertain significance
NM_014878.5(PUM3):c.169A>G (p.Ile57Val)	single nucleotide variant	Inborn genetic diseases [RCV002970042]	Chr9:2837315 [GRCh38] Chr9:2837315 [GRCh37] Chr9:9p24.2	uncertain significance
NM_014878.5(PUM3):c.292G>T (p.Gly98Cys)	single nucleotide variant	Inborn genetic diseases [RCV002840170]	Chr9:2837192 [GRCh38] Chr9:2837192 [GRCh37] Chr9:9p24.2	uncertain significance
NM_014878.5(PUM3):c.251C>T (p.Pro84Leu)	single nucleotide variant	Inborn genetic diseases [RCV002689469]	Chr9:2837233 [GRCh38] Chr9:2837233 [GRCh37] Chr9:9p24.2	uncertain significance
NM_014878.5(PUM3):c.1624A>G (p.Lys542Glu)	single nucleotide variant	Inborn genetic diseases [RCV002907516]	Chr9:2811372 [GRCh38] Chr9:2811372 [GRCh37] Chr9:9p24.2	uncertain significance
NM_014878.5(PUM3):c.628A>G (p.Ser210Gly)	single nucleotide variant	Inborn genetic diseases [RCV002849547]	Chr9:2831011 [GRCh38] Chr9:2831011 [GRCh37] Chr9:9p24.2	uncertain significance
NM_014878.5(PUM3):c.1087G>A (p.Asp363Asn)	single nucleotide variant	Inborn genetic diseases [RCV002981016]	Chr9:2824764 [GRCh38] Chr9:2824764 [GRCh37] Chr9:9p24.2	uncertain significance
NM_014878.5(PUM3):c.409C>T (p.Arg137Trp)	single nucleotide variant	Inborn genetic diseases [RCV002980191]	Chr9:2834062 [GRCh38] Chr9:2834062 [GRCh37] Chr9:9p24.2	uncertain significance
NM_014878.5(PUM3):c.1207G>A (p.Val403Ile)	single nucleotide variant	Inborn genetic diseases [RCV002978718]	Chr9:2820080 [GRCh38] Chr9:2820080 [GRCh37] Chr9:9p24.2	uncertain significance
NM_014878.5(PUM3):c.1901G>C (p.Ser634Thr)	single nucleotide variant	Inborn genetic diseases [RCV002782444]	Chr9:2804377 [GRCh38] Chr9:2804377 [GRCh37] Chr9:9p24.2	uncertain significance
NM_014878.5(PUM3):c.1217C>T (p.Ala406Val)	single nucleotide variant	Inborn genetic diseases [RCV002660714]	Chr9:2820070 [GRCh38] Chr9:2820070 [GRCh37] Chr9:9p24.2	uncertain significance
NM_014878.5(PUM3):c.1520C>A (p.Ala507Glu)	single nucleotide variant	Inborn genetic diseases [RCV002759331]	Chr9:2811476 [GRCh38] Chr9:2811476 [GRCh37] Chr9:9p24.2	uncertain significance
NM_014878.5(PUM3):c.28A>C (p.Thr10Pro)	single nucleotide variant	Inborn genetic diseases [RCV002761914]	Chr9:2838480 [GRCh38] Chr9:2838480 [GRCh37] Chr9:9p24.2	uncertain significance
NM_014878.5(PUM3):c.173C>G (p.Thr58Arg)	single nucleotide variant	Inborn genetic diseases [RCV002925411]	Chr9:2837311 [GRCh38] Chr9:2837311 [GRCh37] Chr9:9p24.2	uncertain significance
NM_014878.5(PUM3):c.1667T>C (p.Leu556Pro)	single nucleotide variant	Inborn genetic diseases [RCV002887699]	Chr9:2810400 [GRCh38] Chr9:2810400 [GRCh37] Chr9:9p24.2	uncertain significance
NM_014878.5(PUM3):c.1469T>C (p.Leu490Ser)	single nucleotide variant	Inborn genetic diseases [RCV002739851]	Chr9:2811527 [GRCh38] Chr9:2811527 [GRCh37] Chr9:9p24.2	uncertain significance
NM_014878.5(PUM3):c.179T>C (p.Leu60Pro)	single nucleotide variant	Inborn genetic diseases [RCV002799410]	Chr9:2837305 [GRCh38] Chr9:2837305 [GRCh37] Chr9:9p24.2	likely benign
NM_014878.5(PUM3):c.1055G>A (p.Arg352His)	single nucleotide variant	Inborn genetic diseases [RCV003000738]	Chr9:2824796 [GRCh38] Chr9:2824796 [GRCh37] Chr9:9p24.2	uncertain significance
NM_014878.5(PUM3):c.580C>G (p.Gln194Glu)	single nucleotide variant	Inborn genetic diseases [RCV002985783]	Chr9:2831281 [GRCh38] Chr9:2831281 [GRCh37] Chr9:9p24.2	uncertain significance
NM_014878.5(PUM3):c.1578G>A (p.Met526Ile)	single nucleotide variant	Inborn genetic diseases [RCV002956147]	Chr9:2811418 [GRCh38] Chr9:2811418 [GRCh37] Chr9:9p24.2	uncertain significance
NM_014878.5(PUM3):c.62A>G (p.Asn21Ser)	single nucleotide variant	Inborn genetic diseases [RCV002804168]	Chr9:2838446 [GRCh38] Chr9:2838446 [GRCh37] Chr9:9p24.2	uncertain significance
NM_014878.5(PUM3):c.1460C>G (p.Ser487Cys)	single nucleotide variant	Inborn genetic diseases [RCV002989499]	Chr9:2811536 [GRCh38] Chr9:2811536 [GRCh37] Chr9:9p24.2	uncertain significance
NM_014878.5(PUM3):c.1748A>G (p.Glu583Gly)	single nucleotide variant	Inborn genetic diseases [RCV002675147]	Chr9:2807880 [GRCh38] Chr9:2807880 [GRCh37] Chr9:9p24.2	uncertain significance
NM_014878.5(PUM3):c.1336C>G (p.Leu446Val)	single nucleotide variant	Inborn genetic diseases [RCV002648320]	Chr9:2812296 [GRCh38] Chr9:2812296 [GRCh37] Chr9:9p24.2	uncertain significance
NM_014878.5(PUM3):c.536C>T (p.Ser179Leu)	single nucleotide variant	Inborn genetic diseases [RCV002679708]	Chr9:2831325 [GRCh38] Chr9:2831325 [GRCh37] Chr9:9p24.2	uncertain significance
NM_014878.5(PUM3):c.1786G>T (p.Val596Leu)	single nucleotide variant	Inborn genetic diseases [RCV002722669]	Chr9:2807842 [GRCh38] Chr9:2807842 [GRCh37] Chr9:9p24.2	uncertain significance
NM_014878.5(PUM3):c.1334T>C (p.Leu445Ser)	single nucleotide variant	Inborn genetic diseases [RCV003179208]	Chr9:2812298 [GRCh38] Chr9:2812298 [GRCh37] Chr9:9p24.2	uncertain significance
NM_014878.5(PUM3):c.190G>A (p.Gly64Ser)	single nucleotide variant	Inborn genetic diseases [RCV003202390]	Chr9:2837294 [GRCh38] Chr9:2837294 [GRCh37] Chr9:9p24.2	uncertain significance
NM_014878.5(PUM3):c.1060G>T (p.Ala354Ser)	single nucleotide variant	Inborn genetic diseases [RCV003208198]	Chr9:2824791 [GRCh38] Chr9:2824791 [GRCh37] Chr9:9p24.2	uncertain significance
NM_014878.5(PUM3):c.1103C>T (p.Ala368Val)	single nucleotide variant	Inborn genetic diseases [RCV003287258]	Chr9:2824748 [GRCh38] Chr9:2824748 [GRCh37] Chr9:9p24.2	uncertain significance
NM_014878.5(PUM3):c.1895C>T (p.Thr632Ile)	single nucleotide variant	Inborn genetic diseases [RCV003354335]	Chr9:2804383 [GRCh38] Chr9:2804383 [GRCh37] Chr9:9p24.2	uncertain significance
NM_014878.5(PUM3):c.1564G>A (p.Val522Ile)	single nucleotide variant	Inborn genetic diseases [RCV003368825]	Chr9:2811432 [GRCh38] Chr9:2811432 [GRCh37] Chr9:9p24.2	uncertain significance
GRCh37/hg19 9p24.3-13.1(chr9:1475882-38771831)x3	copy number gain	not provided [RCV003484765]	Chr9:1475882..38771831 [GRCh37] Chr9:9p24.3-13.1	pathogenic
Single allele	deletion	not provided [RCV003448696]	Chr9:204064..16456192 [GRCh37] Chr9:9p24.3-22.3	pathogenic
GRCh37/hg19 9p24.2(chr9:2596150-2973485)x3	copy number gain	not specified [RCV003986805]	Chr9:2596150..2973485 [GRCh37] Chr9:9p24.2	uncertain significance
GRCh37/hg19 9p24.3-24.1(chr9:203862-8548307)x1	copy number loss	not specified [RCV003986852]	Chr9:203862..8548307 [GRCh37] Chr9:9p24.3-24.1	pathogenic
GRCh37/hg19 9p24.3-22.1(chr9:203861-19302836)x1	copy number loss	not specified [RCV003986799]	Chr9:203861..19302836 [GRCh37] Chr9:9p24.3-22.1	pathogenic
GRCh37/hg19 9p24.3-22.3(chr9:203861-15508556)x1	copy number loss	not specified [RCV003986809]	Chr9:203861..15508556 [GRCh37] Chr9:9p24.3-22.3	pathogenic
GRCh37/hg19 9p24.2(chr9:2719989-2852747)x1	copy number loss	not specified [RCV003986820]	Chr9:2719989..2852747 [GRCh37] Chr9:9p24.2	uncertain significance
GRCh37/hg19 9p24.3-23(chr9:203861-9128400)x1	copy number loss	not specified [RCV003986818]	Chr9:203861..9128400 [GRCh37] Chr9:9p24.3-23	pathogenic

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	323
Count of miRNA genes:	276
Interacting mature miRNAs:	286
Transcripts:	ENST00000382032, ENST00000397885, ENST00000469168, ENST00000490444
Prediction methods:	Miranda, Rnahybrid
Result types:	miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region

D9S1951

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	14	52,755,994 - 52,756,083	UniSTS	GRCh37
GRCh37	9	2,804,236 - 2,804,326	UniSTS	GRCh37
Build 36	9	2,794,236 - 2,794,326	RGD	NCBI36
Celera	14	32,623,917 - 32,624,006	UniSTS
Celera	9	2,722,492 - 2,722,582	RGD
Cytogenetic Map	9	p24.2	UniSTS
Cytogenetic Map	14	q22.1	UniSTS
HuRef	9	2,759,304 - 2,759,394	UniSTS
HuRef	14	32,916,657 - 32,916,746	UniSTS
Stanford-G3 RH Map	9	41.0	UniSTS
GeneMap99-GB4 RH Map	9	19.95	UniSTS
Whitehead-RH Map	9	30.0	UniSTS
NCBI RH Map	9	22.6	UniSTS
GeneMap99-G3 RH Map	9	41.0	UniSTS

RH118792

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	9	2,826,171 - 2,826,518	UniSTS	GRCh37
Build 36	9	2,816,171 - 2,816,518	RGD	NCBI36
Celera	9	2,744,428 - 2,744,775	RGD
Cytogenetic Map	9	p24.2	UniSTS
HuRef	9	2,781,240 - 2,781,587	UniSTS
TNG Radiation Hybrid Map	9	961.0	UniSTS

D9S1136

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	9	2,816,641 - 2,816,769	UniSTS	GRCh37
Build 36	9	2,806,641 - 2,806,769	RGD	NCBI36
Celera	9	2,734,898 - 2,735,026	RGD
Cytogenetic Map	9	p24.2	UniSTS
HuRef	9	2,771,710 - 2,771,838	UniSTS
Whitehead-RH Map	9	3.3	UniSTS
NCBI RH Map	9	35.9	UniSTS

RH17371

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	9	2,804,330 - 2,804,461	UniSTS	GRCh37
Build 36	9	2,794,330 - 2,794,461	RGD	NCBI36
Celera	9	2,722,586 - 2,722,717	RGD
Cytogenetic Map	9	p24.2	UniSTS
HuRef	9	2,759,398 - 2,759,529	UniSTS
GeneMap99-GB4 RH Map	9	19.84	UniSTS

WI-11706

Human Assembly	Chr	Position (strand)	Source
Cytogenetic Map	9	p24.2	UniSTS
GeneMap99-GB4 RH Map	9	19.9	UniSTS
Whitehead-RH Map	9	30.0	UniSTS

Expression

RNA-SEQ Expression

High: > 1000 TPM value Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system

circulatory system

endocrine system

exocrine system

hemolymphoid system

hepatobiliary system

integumental system

musculoskeletal system

nervous system

renal system

reproductive system

respiratory system

sensory system

adipose tissue

appendage

entire extraembryonic component

High

Medium

2285

1631

1523

434

1193

277

3765

1201

1099

373

1439

1600

170

1202

2201

Low

147

1341

200

188

743

187

590

992

2608

587

Below cutoff

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_014878	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AF490254	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AH009291	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK225953	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK292169	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK315531	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL354723	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL589675	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL832239	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL832245	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY047588	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY047589	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY047590	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC016137	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471071	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068269	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CR456957	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	D13645	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DA358022	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

RefSeq Acc Id:

ENST00000382032

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	9	2,804,167 - 2,807,974 (-)	Ensembl

RefSeq Acc Id:

ENST00000397885 ⟹ ENSP00000380982

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	9	2,804,152 - 2,844,095 (-)	Ensembl

RefSeq Acc Id:

ENST00000469168

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	9	2,828,475 - 2,829,925 (-)	Ensembl

RefSeq Acc Id:

ENST00000490444 ⟹ ENSP00000474467

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	9	2,720,469 - 2,807,830 (-)	Ensembl

RefSeq Acc Id:

NM_014878 ⟹ NP_055693

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	9	2,804,152 - 2,844,095 (-)	NCBI
GRCh37	9	2,804,152 - 2,844,130 (-)	RGD
Build 36	9	2,794,152 - 2,834,130 (-)	NCBI Archive
Celera	9	2,722,408 - 2,762,387 (-)	RGD
HuRef	9	2,759,220 - 2,799,199 (-)	ENTREZGENE
CHM1_1	9	2,804,479 - 2,844,443 (-)	NCBI
T2T-CHM13v2.0	9	2,807,740 - 2,847,894 (-)	NCBI

Sequence:

show sequence

GGAGAGGCGGTCGGGATCCGCTGCGCGAGCTGTCTCGGTCCCACGTGTGCGAGTTGCTACGATG
GAAGTTAAAGGGAAAAAGCAATTCACAGGAAAGAGTACAAAGACAGCACAAGAAAAAAACAGAT
TTCATAAAAATAGTGATTCTGGTTCTTCAAAGACATTTCCAACAAGGAAAGTTGCTAAAGAAGG
TGGACCTAAAGTCACATCTAGGAACTTTGAGAAAAGTATCACAAAACTTGGGAAAAAGGGTGTA
AAGCAGTTCAAGAATAAGCAGCAAGGGGACAAATCACCAAAGAACAAATTCCAGCCGGCAAATA
AATTCAACAAGAAGAGAAAATTCCAGCCAGATGGTAGAAGCGATGAATCAGCAGCCAAGAAGCC
CAAATGGGATGACTTCAAAAAGAAGAAGAAAGAACTGAAGCAAAGCAGACAACTCAGTGATAAA
ACCAACTATGACATTGTTGTTCGGGCAAAGCAGATGTGGGAGATTTTAAGAAGAAAAGACTGTG
ACAAAGAAAAAAGAGTAAAGTTAATGAGTGATTTGCAGAAGTTGATTCAAGGGAAAATTAAAAC
TATTGCATTTGCACACGATTCAACTCGTGTGATCCAGTGTTACATTCAGTATGGTAATGAAGAA
CAGAGAAAACAGGCTTTTGAAGAATTGCGAGATGATTTGGTTGAGTTAAGTAAAGCCAAATATT
CGAGAAATATTGTTAAGAAATTTCTCATGTATGGAAGTAAACCACAGATTGCAGAGATAATCAG
AAGTTTTAAAGGCCACGTGAGGAAGATGCTGCGGCATGCGGAAGCATCAGCCATCGTGGAGTAC
GCATACAATGACAAAGCCATTTTGGAGCAGAGGAACATGCTGACGGAAGAGCTCTATGGGAACA
CATTTCAGCTTTACAAGTCAGCAGATCACCGAACTCTGGACAAAGTGTTAGAGGTACAGCCAGA
AAAATTAGAACTTATTATGGATGAAATGAAACAGATTCTAACTCCAATGGCCCAAAAGGAAGCT
GTGATTAAGCACTCATTGGTGCATAAAGTATTCTTGGACTTTTTTACCTATGCACCCCCCAAAC
TCAGATCAGAAATGATTGAAGCCATCCGCGAAGCGGTGGTCTACCTGGCACACACACACGATGG
CGCCAGAGTGGCCATGCACTGCCTGTGGCATGGCACGCCCAAGGACAGGAAAGTGATTGTGAAA
ACAATGAAGACTTATGTTGAAAAGGTGGCTAATGGCCAATACTCCCATTTGGTTTTACTGGCGG
CATTTGATTGTATTGATGATACTAAGCTTGTGAAGCAGATAATCATATCAGAAATTATCAGTTC
ATTGCCTAGCATAGTAAATGACAAATATGGAAGGAAGGTCCTATTGTACTTACTAAGCCCCAGA
GATCCTGCACATACAGTACGAGAAATCATTGAAGTTCTGCAAAAAGGAGATGGAAATGCACACA
GTAAGAAAGATACAGAGGTCCGCAGACGGGAGCTCCTAGAATCCATTTCTCCAGCTTTGTTAAG
CTACCTGCAAGAACACGCCCAAGAAGTGGTGCTAGATAAGTCTGCGTGTGTGTTGGTGTCTGAC
ATTCTGGGATCTGCCACTGGAGACGTTCAGCCTACCATGAATGCCATCGCCAGCTTGGCAGCAA
CAGGACTGCATCCTGGTGGCAAGGACGGAGAGCTTCACATTGCAGAACATCCTGCAGGACATCT
AGTTCTGAAGTGGTTAATAGAGCAAGATAAAAAGATGAAAGAAAATGGGAGAGAAGGTTGTTTT
GCAAAAACACTTGTAGAGCATGTTGGTATGAAGAACCTGAAGTCCTGGGCTAGTGTAAATCGAG
GTGCCATTATTCTTTCTAGCCTCCTCCAGAGTTGTGACCTGGAAGTTGCAAACAAAGTCAAAGC
TGCACTGAAAAGCTTGATTCCTACATTGGAAAAAACCAAAAGCACCAGCAAAGGAATAGAAATT
CTACTTGAAAAACTGAGCACATAGGTGGAAAGAGTTAAGAGCAAGATGGAATGATTTTTTCTGT
TCTCTGTTCTGTTTCCCAATGCAGAAAAGAAGGGGTAGGGTCCACCATACTGGTAATTGGGGTA
CTCTGTATATGTGTTTCTTCTTTGTATACGAATCTATTTATATAAATTGTTTTTTTAAATGGTC
TTTTTTAAAAA

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Protein Sequences


Protein RefSeqs	NP_055693	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAF69837	(Get FASTA)	NCBI Sequence Viewer
	AAH16137	(Get FASTA)	NCBI Sequence Viewer
	AAL06072	(Get FASTA)	NCBI Sequence Viewer
	AAL06073	(Get FASTA)	NCBI Sequence Viewer
	AAL06074	(Get FASTA)	NCBI Sequence Viewer
	AAO85462	(Get FASTA)	NCBI Sequence Viewer
	BAA02808	(Get FASTA)	NCBI Sequence Viewer
	BAF84858	(Get FASTA)	NCBI Sequence Viewer
	BAG37911	(Get FASTA)	NCBI Sequence Viewer
	CAG33238	(Get FASTA)	NCBI Sequence Viewer
	EAW58802	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000380982
	ENSP00000380982.2
	ENSP00000474467.1
GenBank Protein	Q15397	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:

NP_055693 ⟸ NM_014878

- UniProtKB:

Q96L79 (UniProtKB/Swiss-Prot), Q96L78 (UniProtKB/Swiss-Prot), Q96B27 (UniProtKB/Swiss-Prot), Q6IB47 (UniProtKB/Swiss-Prot), Q5SZY9 (UniProtKB/Swiss-Prot), Q547G7 (UniProtKB/Swiss-Prot), A8K804 (UniProtKB/Swiss-Prot), Q96L80 (UniProtKB/Swiss-Prot), Q15397 (UniProtKB/Swiss-Prot)

- Sequence:

show sequence

MEVKGKKQFTGKSTKTAQEKNRFHKNSDSGSSKTFPTRKVAKEGGPKVTSRNFEKSITKLGKKG
VKQFKNKQQGDKSPKNKFQPANKFNKKRKFQPDGRSDESAAKKPKWDDFKKKKKELKQSRQLSD
KTNYDIVVRAKQMWEILRRKDCDKEKRVKLMSDLQKLIQGKIKTIAFAHDSTRVIQCYIQYGNE
EQRKQAFEELRDDLVELSKAKYSRNIVKKFLMYGSKPQIAEIIRSFKGHVRKMLRHAEASAIVE
YAYNDKAILEQRNMLTEELYGNTFQLYKSADHRTLDKVLEVQPEKLELIMDEMKQILTPMAQKE
AVIKHSLVHKVFLDFFTYAPPKLRSEMIEAIREAVVYLAHTHDGARVAMHCLWHGTPKDRKVIV
KTMKTYVEKVANGQYSHLVLLAAFDCIDDTKLVKQIIISEIISSLPSIVNDKYGRKVLLYLLSP
RDPAHTVREIIEVLQKGDGNAHSKKDTEVRRRELLESISPALLSYLQEHAQEVVLDKSACVLVS
DILGSATGDVQPTMNAIASLAATGLHPGGKDGELHIAEHPAGHLVLKWLIEQDKKMKENGREGC
FAKTLVEHVGMKNLKSWASVNRGAIILSSLLQSCDLEVANKVKAALKSLIPTLEKTKSTSKGIE
ILLEKLST

hide sequence

RefSeq Acc Id:

ENSP00000474467 ⟸ ENST00000490444

RefSeq Acc Id:

ENSP00000380982 ⟸ ENST00000397885

Protein Domains

PUM-HD

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q15397-F1-model_v2	AlphaFold	Q15397	1-648	view protein structure

Promoters

RGD ID:

6807799

Promoter ID:

HG_KWN:62458

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell, CD4+TCell_12Hour, CD4+TCell_2Hour, HeLa_S3, Jurkat, K562, Lymphoblastoid, NB4

Transcripts:

ENST00000397885, UC003ZHQ.1, UC010MHC.1

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	9	2,834,116 - 2,835,067 (-)	MPROMDB

RGD ID:

7214575

Promoter ID:

EPDNEW_H13033

Type:

initiation region

Name:

PUM3_1

Description:

pumilio RNA binding family member 3

SO ACC ID:

SO:0000170

Source:

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

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	9	2,844,064 - 2,844,124	EPDNEW

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:29676	AgrOrtholog
COSMIC	PUM3	COSMIC
Ensembl Genes	ENSG00000080608	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript	ENST00000397885	ENTREZGENE
	ENST00000397885.3	UniProtKB/Swiss-Prot
	ENST00000490444.2	UniProtKB/TrEMBL
Gene3D-CATH	1.25.10.10	UniProtKB/Swiss-Prot
GTEx	ENSG00000080608	GTEx
HGNC ID	HGNC:29676	ENTREZGENE
Human Proteome Map	PUM3	Human Proteome Map
InterPro	ARM-like	UniProtKB/Swiss-Prot
	ARM-type_fold	UniProtKB/Swiss-Prot
	CPL_dom	UniProtKB/Swiss-Prot
	PUM-HD	UniProtKB/Swiss-Prot
	PUM3	UniProtKB/Swiss-Prot
	Pumilio_RNA-bd_rpt	UniProtKB/Swiss-Prot
KEGG Report	hsa:9933	UniProtKB/Swiss-Prot
NCBI Gene	9933	ENTREZGENE
OMIM	609960	OMIM
PANTHER	PTHR13389	UniProtKB/Swiss-Prot
	PUMILIO HOMOLOG 3	UniProtKB/Swiss-Prot
Pfam	CPL	UniProtKB/Swiss-Prot
PharmGKB	PA134895115	PharmGKB
PROSITE	PUM	UniProtKB/Swiss-Prot
	PUM_HD	UniProtKB/Swiss-Prot
SMART	Pumilio	UniProtKB/Swiss-Prot
Superfamily-SCOP	SSF48371	UniProtKB/Swiss-Prot
UniProt	A8K804	ENTREZGENE
	PUM3_HUMAN	UniProtKB/Swiss-Prot, ENTREZGENE
	Q547G7	ENTREZGENE
	Q5SZY9	ENTREZGENE
	Q6IB47	ENTREZGENE
	Q96B27	ENTREZGENE
	Q96L78	ENTREZGENE
	Q96L79	ENTREZGENE
	Q96L80	ENTREZGENE
	S4R3K8_HUMAN	UniProtKB/TrEMBL
UniProt Secondary	A8K804	UniProtKB/Swiss-Prot
	Q547G7	UniProtKB/Swiss-Prot
	Q5SZY9	UniProtKB/Swiss-Prot
	Q6IB47	UniProtKB/Swiss-Prot
	Q96B27	UniProtKB/Swiss-Prot
	Q96L78	UniProtKB/Swiss-Prot
	Q96L79	UniProtKB/Swiss-Prot
	Q96L80	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2015-11-10	PUM3	pumilio RNA binding family member 3		pumilio RNA-binding family member 3	Symbol and/or name change	5135510	APPROVED
2015-10-06	PUM3	pumilio RNA-binding family member 3	KIAA0020	KIAA0020	Symbol and/or name change	5135510	APPROVED

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

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

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

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

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