TPRG1L (tumor protein p63 regulated 1 like)

Gene: TPRG1L (tumor protein p63 regulated 1 like) Homo sapiens

Analyze

Symbol:

TPRG1L

Name:

tumor protein p63 regulated 1 like

RGD ID:

1601827

HGNC Page

HGNC:27007

Description:

Predicted to enable calmodulin binding activity and identical protein binding activity. Predicted to be involved in presynaptic modulation of chemical synaptic transmission; regulation of glutamatergic synaptic transmission; and regulation of synaptic vesicle exocytosis. Predicted to act upstream of or within calmodulin dependent kinase signaling pathway; negative regulation of synaptic transmission; and synaptic vesicle docking. Located in extracellular exosome.

Type:

protein-coding

RefSeq Status:

VALIDATED

Previously known as:

FAM79A; family with sequence similarity 79, member A; FLJ21811; h-mover; mossy fiber terminal-associated vertebrate-specific presynaptic protein; mover; RP11-46F15.3; SVAP30; TPRGL; tumor protein p63 regulated 1-like; tumor protein p63-regulated gene 1-like protein

RGD Orthologs

Alliance Orthologs

More Info

more info ...

Related Pseudogenes:

TPRG1LP1

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	1	3,625,015 - 3,630,127 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	1	3,625,015 - 3,630,127 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	1	3,541,579 - 3,546,691 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	1	3,531,416 - 3,536,555 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	1	2,796,682 - 2,801,797 (+)	NCBI		Celera
Cytogenetic Map	1	p36.32	NCBI
HuRef	1	2,837,972 - 2,843,088 (+)	NCBI		HuRef
CHM1_1	1	3,528,259 - 3,533,375 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	1	3,135,110 - 3,140,200 (+)	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 1p36 deletion syndrome (IAGP)

Ehlers-Danlos syndrome spondylodysplastic type 2 (IAGP)

immunodeficiency 16 (IAGP)

immunodeficiency 38 (IAGP)

Joubert syndrome 25 (IAGP)

Neurodevelopmental Disorders (IAGP)

Peroxisome Biogenesis Disorder, Complementation Group 7 (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

(-)-demecolcine (EXP)

1,2-dimethylhydrazine (ISO)

17alpha-ethynylestradiol (ISO)

2,3',4,4',5-Pentachlorobiphenyl (ISO)

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

3-chloropropane-1,2-diol (ISO)

6-propyl-2-thiouracil (ISO)

acrylamide (ISO)

amitrole (ISO)

aristolochic acid A (EXP)

atrazine (EXP)

benzo[a]pyrene (EXP)

bisphenol A (ISO)

carbon nanotube (ISO)

choline (ISO)

corosolic acid (EXP)

coumestrol (EXP)

diazinon (EXP)

diethylstilbestrol (EXP)

finasteride (ISO)

folic acid (ISO)

formaldehyde (EXP)

isoflurane (ISO)

ivermectin (EXP)

L-methionine (ISO)

lead(0) (EXP)

leflunomide (EXP)

methimazole (ISO)

nefazodone (ISO)

nimesulide (ISO)

propiconazole (ISO)

resveratrol (EXP)

rotenone (ISO)

silicon dioxide (EXP)

sodium fluoride (ISO)

sulfadimethoxine (ISO)

tamoxifen (ISO)

tunicamycin (EXP)

valproic acid (EXP)

vincristine (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

biological_process (ND)

calmodulin dependent kinase signaling pathway (IEA,ISO)

negative regulation of synaptic transmission (IEA,ISO)

presynaptic modulation of chemical synaptic transmission (ISO)

regulation of synaptic transmission, glutamatergic (ISS)

regulation of synaptic vesicle exocytosis (ISO)

synaptic vesicle docking (IEA,ISO)

Cellular Component

calyx of Held (ISO,ISS)

cell projection (IEA)

cytoplasm (IBA,IEA)

cytoplasmic vesicle (IEA)

extracellular exosome (HDA)

extrinsic component of synaptic vesicle membrane (ISO)

glutamatergic synapse (ISO)

membrane (IEA)

presynapse (IEA,ISO)

presynaptic active zone (IEA)

synapse (IEA)

synaptic vesicle (IBA,IEA,ISS)

synaptic vesicle membrane (IEA)

Molecular Function

calmodulin binding (IEA)

identical protein binding (IEA)

molecular_function (ND)

protein binding (ISO)

References

References - curated

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

Additional References at PubMed

PMID:12477932	PMID:14702039	PMID:15489334	PMID:16710414	PMID:17869247	PMID:18256694	PMID:19199708	PMID:21873635	PMID:26212709	PMID:32457219	PMID:33961781

Genomics

Comparative Map Data

TPRG1L
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	1	3,625,015 - 3,630,127 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	1	3,625,015 - 3,630,127 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	1	3,541,579 - 3,546,691 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	1	3,531,416 - 3,536,555 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	1	2,796,682 - 2,801,797 (+)	NCBI		Celera
Cytogenetic Map	1	p36.32	NCBI
HuRef	1	2,837,972 - 2,843,088 (+)	NCBI		HuRef
CHM1_1	1	3,528,259 - 3,533,375 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	1	3,135,110 - 3,140,200 (+)	NCBI		T2T-CHM13v2.0

Tprg1l
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	4	154,241,942 - 154,246,763 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	4	154,241,942 - 154,245,123 (-)	Ensembl		GRCm39 Ensembl
GRCm38	4	154,157,485 - 154,162,306 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	4	154,157,485 - 154,160,666 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	4	153,531,594 - 153,534,793 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	4	153,001,285 - 153,004,484 (-)	NCBI		MGSCv36	mm8
Celera	4	156,441,404 - 156,444,603 (-)	NCBI		Celera
Cytogenetic Map	4	E2	NCBI
cM Map	4	83.88	NCBI

Tprg1l
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	5	170,004,577 - 170,007,784 (-)	NCBI		GRCr8
mRatBN7.2	5	164,722,151 - 164,725,358 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	5	164,710,285 - 164,725,425 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	5	167,426,253 - 167,429,460 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	5	169,247,671 - 169,250,878 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	5	169,210,188 - 169,213,395 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	5	171,456,299 - 171,459,488 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	5	171,456,302 - 171,459,488 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	5	174,938,793 - 174,941,982 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
Celera	5	162,933,950 - 162,937,177 (-)	NCBI		Celera
Cytogenetic Map	5	q36	NCBI

Tprg1l
(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_004955486	8,007,842 - 8,013,910 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955486	8,007,678 - 8,013,996 (-)	NCBI	ChiLan1.0	ChiLan1.0

TPRG1L
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
NHGRI_mPanPan1-v2	1	224,678,694 - 224,683,810 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	1	223,323,817 - 223,328,909 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	1	2,296,601 - 2,301,687 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	1	3,420,294 - 3,425,007 (+)	NCBI	panpan1.1	PanPan1.1	panPan2

TPRG1L
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	5	58,155,178 - 58,159,880 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	5	58,157,096 - 58,159,880 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	5	58,166,902 - 58,170,424 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	5	58,357,363 - 58,360,885 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	5	58,357,400 - 58,360,877 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	5	58,371,849 - 58,375,361 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	5	58,240,675 - 58,244,129 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	5	58,630,852 - 58,634,383 (+)	NCBI		UU_Cfam_GSD_1.0

Tprg1l
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	NW_024405058	29,207,191 - 29,212,194 (+)	NCBI		HiC_Itri_2
SpeTri2.0	NW_004936737	253,752 - 258,767 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

TPRG1L
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	6	65,150,903 - 65,154,429 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	6	65,150,897 - 65,154,311 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	6	59,884,843 - 59,888,257 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

TPRG1L
(Chlorocebus sabaeus - green monkey)

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	20	128,057,629 - 128,062,545 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	20	128,059,137 - 128,062,455 (-)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666054	32,334,644 - 32,339,575 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Tprg1l
(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_004624818	6,850,486 - 6,858,136 (-)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624818	6,850,479 - 6,857,979 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in TPRG1L
15 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 1p36.33-36.32(chr1:844347-3712147)x1	copy number loss	See cases [RCV000050882]	Chr1:844347..3712147 [GRCh38] Chr1:779727..3628711 [GRCh37] Chr1:769590..3618571 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.31(chr1:844347-5682587)x1	copy number loss	See cases [RCV000050642]	Chr1:844347..5682587 [GRCh38] Chr1:779727..5742647 [GRCh37] Chr1:769590..5665234 [NCBI36] Chr1:1p36.33-36.31	pathogenic
GRCh38/hg38 1p36.32-36.23(chr1:2844760-8007940)x1	copy number loss	See cases [RCV000051086]	Chr1:2844760..8007940 [GRCh38] Chr1:2761325..8068000 [GRCh37] Chr1:2751185..7990587 [NCBI36] Chr1:1p36.32-36.23	pathogenic
GRCh38/hg38 1p36.33-36.31(chr1:844347-6477436)x1	copy number loss	See cases [RCV000051143]	Chr1:844347..6477436 [GRCh38] Chr1:779727..6537496 [GRCh37] Chr1:769590..6460083 [NCBI36] Chr1:1p36.33-36.31	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:792758-5006311)x3	copy number gain	See cases [RCV000051779]	Chr1:792758..5006311 [GRCh38] Chr1:728138..5066371 [GRCh37] Chr1:718001..4966231 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:826553-4719105)x3	copy number gain	See cases [RCV000051780]	Chr1:826553..4719105 [GRCh38] Chr1:761933..4779165 [GRCh37] Chr1:751796..4679025 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.31(chr1:844347-6231924)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051782]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051782]\|See cases [RCV000051782]	Chr1:844347..6231924 [GRCh38] Chr1:779727..6291984 [GRCh37] Chr1:769590..6214571 [NCBI36] Chr1:1p36.33-36.31	pathogenic
GRCh38/hg38 1p36.33-36.23(chr1:859215-8747647)x1	copy number loss	See cases [RCV000052045]	Chr1:859215..8747647 [GRCh38] Chr1:794595..8807706 [GRCh37] Chr1:784458..8730293 [NCBI36] Chr1:1p36.33-36.23	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:870177-4426613)x1	copy number loss	See cases [RCV000052063]	Chr1:870177..4426613 [GRCh38] Chr1:805557..4486673 [GRCh37] Chr1:795420..4386533 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:872305-4133409)x1	copy number loss	See cases [RCV000052066]	Chr1:872305..4133409 [GRCh38] Chr1:807685..4193469 [GRCh37] Chr1:797548..4093329 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.23(chr1:629025-8537745)x1	copy number loss	See cases [RCV000051993]	Chr1:629025..8537745 [GRCh38] Chr1:564405..8597804 [GRCh37] Chr1:554268..8520391 [NCBI36] Chr1:1p36.33-36.23	pathogenic
GRCh38/hg38 1p36.33-36.31(chr1:629044-7008678)x1	copy number loss	See cases [RCV000051995]	Chr1:629044..7008678 [GRCh38] Chr1:564424..7068738 [GRCh37] Chr1:554287..6991325 [NCBI36] Chr1:1p36.33-36.31	pathogenic
GRCh38/hg38 1p36.33-36.31(chr1:1181847-5507243)x1	copy number loss	See cases [RCV000052070]	Chr1:1181847..5507243 [GRCh38] Chr1:1117227..5567303 [GRCh37] Chr1:1107090..5489890 [NCBI36] Chr1:1p36.33-36.31	pathogenic
GRCh38/hg38 1p36.32(chr1:2683403-4729121)x1	copy number loss	See cases [RCV000052073]	Chr1:2683403..4729121 [GRCh38] Chr1:2614842..4789181 [GRCh37] Chr1:2604702..4689041 [NCBI36] Chr1:1p36.32	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:821713-4155674)x1	copy number loss	See cases [RCV000051996]	Chr1:821713..4155674 [GRCh38] Chr1:757093..4215734 [GRCh37] Chr1:746956..4115594 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.31(chr1:844147-5970026)x1	copy number loss	See cases [RCV000052014]	Chr1:844147..5970026 [GRCh38] Chr1:779527..6030086 [GRCh37] Chr1:769390..5952673 [NCBI36] Chr1:1p36.33-36.31	pathogenic
GRCh38/hg38 1p36.33-36.31(chr1:844147-5827203)x1	copy number loss	See cases [RCV000052015]	Chr1:844147..5827203 [GRCh38] Chr1:779527..5887263 [GRCh37] Chr1:769390..5809850 [NCBI36] Chr1:1p36.33-36.31	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:844147-4598532)x1	copy number loss	See cases [RCV000052017]	Chr1:844147..4598532 [GRCh38] Chr1:779527..4658592 [GRCh37] Chr1:769390..4558452 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:844147-5020772)x1	copy number loss	See cases [RCV000052018]	Chr1:844147..5020772 [GRCh38] Chr1:779527..5080832 [GRCh37] Chr1:769390..4980692 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.31(chr1:844347-5363885)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052037]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052037]\|See cases [RCV000052037]	Chr1:844347..5363885 [GRCh38] Chr1:779727..5423945 [GRCh37] Chr1:769590..5323805 [NCBI36] Chr1:1p36.33-36.31	pathogenic
GRCh38/hg38 1p36.33-36.22(chr1:844347-10809098)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052038]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052038]\|See cases [RCV000052038]	Chr1:844347..10809098 [GRCh38] Chr1:779727..10869155 [GRCh37] Chr1:769590..10791742 [NCBI36] Chr1:1p36.33-36.22	pathogenic
GRCh38/hg38 1p36.33-36.31(chr1:844347-5431639)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052039]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052039]\|See cases [RCV000052039]	Chr1:844347..5431639 [GRCh38] Chr1:779727..5491699 [GRCh37] Chr1:769590..5414286 [NCBI36] Chr1:1p36.33-36.31	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:844347-4665295)x1	copy number loss	See cases [RCV000052040]	Chr1:844347..4665295 [GRCh38] Chr1:779727..4725355 [GRCh37] Chr1:769590..4625215 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.23(chr1:844347-7151129)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052042]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052042]\|See cases [RCV000052042]	Chr1:844347..7151129 [GRCh38] Chr1:779727..7211189 [GRCh37] Chr1:769590..7133776 [NCBI36] Chr1:1p36.33-36.23	pathogenic
GRCh38/hg38 1p36.32-36.21(chr1:2963330-12666744)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053713]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053713]\|See cases [RCV000053713]	Chr1:2963330..12666744 [GRCh38] Chr1:2879895..12726755 [GRCh37] Chr1:2869755..12649342 [NCBI36] Chr1:1p36.32-36.21	pathogenic
GRCh38/hg38 1p36.32-36.13(chr1:3006193-17688934)x1	copy number loss	See cases [RCV000053714]	Chr1:3006193..17688934 [GRCh38] Chr1:2922757..18015429 [GRCh37] Chr1:2912617..17888016 [NCBI36] Chr1:1p36.32-36.13	pathogenic
GRCh38/hg38 1p36.32-36.22(chr1:3319336-11243395)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053716]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053716]\|See cases [RCV000053716]	Chr1:3319336..11243395 [GRCh38] Chr1:3235900..11303452 [GRCh37] Chr1:3225760..11226039 [NCBI36] Chr1:1p36.32-36.22	pathogenic
GRCh38/hg38 1p36.32-36.23(chr1:3438149-8171914)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053718]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053718]\|See cases [RCV000053718]	Chr1:3438149..8171914 [GRCh38] Chr1:3354713..8231974 [GRCh37] Chr1:3344573..8154561 [NCBI36] Chr1:1p36.32-36.23	pathogenic
GRCh38/hg38 1p36.32-36.23(chr1:3472163-7842947)x1	copy number loss	See cases [RCV000053720]	Chr1:3472163..7842947 [GRCh38] Chr1:3388727..7903007 [GRCh37] Chr1:3378587..7825594 [NCBI36] Chr1:1p36.32-36.23	pathogenic
NM_017818.3(WRAP73):c.1101C>T (p.Phe367=)	single nucleotide variant	Malignant melanoma [RCV000064742]	Chr1:3631605 [GRCh38] Chr1:3548169 [GRCh37] Chr1:3538029 [NCBI36] Chr1:1p36.32	not provided
GRCh38/hg38 1p36.33-36.32(chr1:1118636-4179080)x1	copy number loss	See cases [RCV000134211]	Chr1:1118636..4179080 [GRCh38] Chr1:1054016..4239140 [GRCh37] Chr1:1043879..4139000 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.31(chr1:844353-5827192)x3	copy number gain	See cases [RCV000134750]	Chr1:844353..5827192 [GRCh38] Chr1:779733..5887252 [GRCh37] Chr1:769596..5809839 [NCBI36] Chr1:1p36.33-36.31	pathogenic
GRCh38/hg38 1p36.33-36.31(chr1:844347-6916587)x1	copy number loss	See cases [RCV000133943]	Chr1:844347..6916587 [GRCh38] Chr1:779727..6976647 [GRCh37] Chr1:769590..6899234 [NCBI36] Chr1:1p36.33-36.31	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:844347-4398122)x1	copy number loss	See cases [RCV000134137]	Chr1:844347..4398122 [GRCh38] Chr1:779727..4458182 [GRCh37] Chr1:769590..4358042 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.32(chr1:3354056-3743487)x3	copy number gain	See cases [RCV000135373]	Chr1:3354056..3743487 [GRCh38] Chr1:3270620..3660051 [GRCh37] Chr1:3260480..3649911 [NCBI36] Chr1:1p36.32	uncertain significance
GRCh38/hg38 1p36.33-36.23(chr1:844347-8171914)x1	copy number loss	See cases [RCV000136554]	Chr1:844347..8171914 [GRCh38] Chr1:779727..8231974 [GRCh37] Chr1:769590..8154561 [NCBI36] Chr1:1p36.33-36.23	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:874379-4973261)x1	copy number loss	See cases [RCV000136715]	Chr1:874379..4973261 [GRCh38] Chr1:809759..5033321 [GRCh37] Chr1:799622..4933181 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.22(chr1:844347-12470133)x1	copy number loss	See cases [RCV000136695]	Chr1:844347..12470133 [GRCh38] Chr1:779727..12530188 [GRCh37] Chr1:769590..12452775 [NCBI36] Chr1:1p36.33-36.22	pathogenic\|likely pathogenic
GRCh38/hg38 1p36.32-36.31(chr1:2906020-5336116)x1	copy number loss	See cases [RCV000137587]	Chr1:2906020..5336116 [GRCh38] Chr1:2822585..5396176 [GRCh37] Chr1:2812445..5296036 [NCBI36] Chr1:1p36.32-36.31	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:1022094-4665295)x1	copy number loss	See cases [RCV000137380]	Chr1:1022094..4665295 [GRCh38] Chr1:957474..4725355 [GRCh37] Chr1:947337..4625215 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:821713-3928354)x3	copy number gain	See cases [RCV000138165]	Chr1:821713..3928354 [GRCh38] Chr1:757093..3823583 [GRCh37] Chr1:746956..3834778 [NCBI36] Chr1:1p36.33-36.32	likely pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:821713-5239643)x1	copy number loss	See cases [RCV000137978]	Chr1:821713..5239643 [GRCh38] Chr1:757093..5299703 [GRCh37] Chr1:746956..5199563 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.31(chr1:844353-6477474)x1	copy number loss	See cases [RCV000139404]	Chr1:844353..6477474 [GRCh38] Chr1:779733..6537534 [GRCh37] Chr1:769596..6460121 [NCBI36] Chr1:1p36.33-36.31	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:1756301-3649513)x4	copy number gain	See cases [RCV000138951]	Chr1:1756301..3649513 [GRCh38] Chr1:1687740..3566077 [GRCh37] Chr1:1677600..3555937 [NCBI36] Chr1:1p36.33-36.32	uncertain significance
GRCh38/hg38 1p36.33-36.31(chr1:821713-7000838)x1	copy number loss	See cases [RCV000138896]	Chr1:821713..7000838 [GRCh38] Chr1:757093..7060898 [GRCh37] Chr1:746956..6983485 [NCBI36] Chr1:1p36.33-36.31	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:778698-4898439)x1	copy number loss	See cases [RCV000140164]	Chr1:778698..4898439 [GRCh38] Chr1:714078..4958499 [GRCh37] Chr1:703941..4858359 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:1330915-3743546)x3	copy number gain	See cases [RCV000139659]	Chr1:1330915..3743546 [GRCh38] Chr1:1266295..3660110 [GRCh37] Chr1:1256158..3649970 [NCBI36] Chr1:1p36.33-36.32	uncertain significance
GRCh38/hg38 1p36.33-36.32(chr1:821713-5099990)x1	copy number loss	See cases [RCV000141318]	Chr1:821713..5099990 [GRCh38] Chr1:757093..5160050 [GRCh37] Chr1:746956..5059910 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:821713-4225085)x1	copy number loss	See cases [RCV000141356]	Chr1:821713..4225085 [GRCh38] Chr1:757093..4285145 [GRCh37] Chr1:746956..4185005 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.31(chr1:821713-5480263)x1	copy number loss	See cases [RCV000140709]	Chr1:821713..5480263 [GRCh38] Chr1:757093..5540323 [GRCh37] Chr1:746956..5462910 [NCBI36] Chr1:1p36.33-36.31	pathogenic
GRCh38/hg38 1p36.33-36.22(chr1:914086-9567122)x1	copy number loss	See cases [RCV000141970]	Chr1:914086..9567122 [GRCh38] Chr1:849466..9627180 [GRCh37] Chr1:839329..9549767 [NCBI36] Chr1:1p36.33-36.22	pathogenic
GRCh38/hg38 1p36.33-36.22(chr1:902111-9556305)x1	copy number loss	See cases [RCV000141577]	Chr1:902111..9556305 [GRCh38] Chr1:837491..9616363 [GRCh37] Chr1:827354..9538950 [NCBI36] Chr1:1p36.33-36.22	pathogenic
GRCh38/hg38 1p36.32-36.23(chr1:2868477-7332569)x1	copy number loss	See cases [RCV000141437]	Chr1:2868477..7332569 [GRCh38] Chr1:2785042..7392629 [GRCh37] Chr1:2774902..7315216 [NCBI36] Chr1:1p36.32-36.23	pathogenic
GRCh38/hg38 1p36.33-36.23(chr1:898721-7811306)x1	copy number loss	See cases [RCV000142651]	Chr1:898721..7811306 [GRCh38] Chr1:834101..7871366 [GRCh37] Chr1:823964..7793953 [NCBI36] Chr1:1p36.33-36.23	pathogenic
GRCh38/hg38 1p36.33-36.22(chr1:911300-9329925)x1	copy number loss	See cases [RCV000142615]	Chr1:911300..9329925 [GRCh38] Chr1:846680..9389984 [GRCh37] Chr1:836543..9312571 [NCBI36] Chr1:1p36.33-36.22	pathogenic
GRCh38/hg38 1p36.33-36.23(chr1:844347-7870545)x1	copy number loss	See cases [RCV000142709]	Chr1:844347..7870545 [GRCh38] Chr1:779727..7930605 [GRCh37] Chr1:769590..7853192 [NCBI36] Chr1:1p36.33-36.23	pathogenic
Single allele	complex	Breast ductal adenocarcinoma [RCV000207058]	Chr1:909238..24706269 [GRCh37] Chr1:1p36.33-36.11	uncertain significance
chr1:909238-16736132 complex variant	complex	Breast ductal adenocarcinoma [RCV000207094]	Chr1:909238..16736132 [GRCh37] Chr1:1p36.33-36.13	uncertain significance
GRCh37/hg19 1p36.33-36.22(chr1:82154-12699337)x1	copy number loss	See cases [RCV000239416]	Chr1:82154..12699337 [GRCh37] Chr1:1p36.33-36.22	pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:852863-4203509)x3	copy number gain	Distal trisomy 1p36 [RCV000519759]	Chr1:852863..4203509 [GRCh37] Chr1:1p36.33-36.32	pathogenic
GRCh37/hg19 1p36.33-36.21(chr1:746608-15077159)x1	copy number loss	See cases [RCV000240403]	Chr1:746608..15077159 [GRCh37] Chr1:1p36.33-36.21	pathogenic
GRCh37/hg19 1p36.32-36.22(chr1:2817420-10670878)x1	copy number loss	See cases [RCV000449468]	Chr1:2817420..10670878 [GRCh37] Chr1:1p36.32-36.22	pathogenic
GRCh37/hg19 1p36.33-36.31(chr1:849466-6566086)x1	copy number loss	See cases [RCV000449148]	Chr1:849466..6566086 [GRCh37] Chr1:1p36.33-36.31	pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:849466-5318552)x1	copy number loss	See cases [RCV000449322]	Chr1:849466..5318552 [GRCh37] Chr1:1p36.33-36.32	pathogenic
GRCh37/hg19 1p36.33-36.22(chr1:849466-9683808)x1	copy number loss	See cases [RCV000446331]	Chr1:849466..9683808 [GRCh37] Chr1:1p36.33-36.22	pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:19225-4401691)x3	copy number gain	See cases [RCV000447000]	Chr1:19225..4401691 [GRCh37] Chr1:1p36.33-36.32	pathogenic
GRCh37/hg19 1p36.32(chr1:2628037-3544272)x3	copy number gain	See cases [RCV000447500]	Chr1:2628037..3544272 [GRCh37] Chr1:1p36.32	uncertain significance
GRCh37/hg19 1p36.33-36.32(chr1:849466-4099471)x1	copy number loss	See cases [RCV000446544]	Chr1:849466..4099471 [GRCh37] Chr1:1p36.33-36.32	pathogenic
GRCh37/hg19 1p36.32-36.31(chr1:2609223-2631378)x3	copy number gain	See cases [RCV000447158]	Chr1:2609223..2631378 [GRCh37] Chr1:1p36.32-36.31	benign
GRCh37/hg19 1p36.32(chr1:3520067-3697700)x1	copy number loss	See cases [RCV000447170]	Chr1:3520067..3697700 [GRCh37] Chr1:1p36.32	uncertain significance
GRCh37/hg19 1p36.32-36.12(chr1:2749920-22564787)x1	copy number loss	See cases [RCV000446470]	Chr1:2749920..22564787 [GRCh37] Chr1:1p36.32-36.12	pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:564424-3582058)x1	copy number loss	See cases [RCV000447515]	Chr1:564424..3582058 [GRCh37] Chr1:1p36.33-36.32	pathogenic
GRCh37/hg19 1p36.33-36.31(chr1:849466-5707515)x1	copy number loss	See cases [RCV000448903]	Chr1:849466..5707515 [GRCh37] Chr1:1p36.33-36.31	pathogenic
GRCh37/hg19 1p36.33-36.23(chr1:849466-7300178)x1	copy number loss	See cases [RCV000448061]	Chr1:849466..7300178 [GRCh37] Chr1:1p36.33-36.23	pathogenic
GRCh37/hg19 1p36.33-36.31(chr1:849466-6374209)x1	copy number loss	See cases [RCV000512052]	Chr1:849466..6374209 [GRCh37] Chr1:1p36.33-36.31	pathogenic
GRCh37/hg19 1p36.33-36.31(chr1:849466-6505278)x1	copy number loss	See cases [RCV000510494]	Chr1:849466..6505278 [GRCh37] Chr1:1p36.33-36.31	pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:849466-4048535)x1	copy number loss	See cases [RCV000510640]	Chr1:849466..4048535 [GRCh37] Chr1:1p36.33-36.32	pathogenic
GRCh37/hg19 1p36.32-36.23(chr1:2793822-7510850)x1	copy number loss	See cases [RCV000510212]	Chr1:2793822..7510850 [GRCh37] Chr1:1p36.32-36.23	pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	copy number gain	See cases [RCV000510383]	Chr1:849467..249224684 [GRCh37] Chr1:1p36.33-q44	pathogenic
GRCh37/hg19 1p36.33-36.23(chr1:849466-7637060)x1	copy number loss	See cases [RCV000511381]	Chr1:849466..7637060 [GRCh37] Chr1:1p36.33-36.23	pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:1415800-5007235)x1	copy number loss	See cases [RCV000511946]	Chr1:1415800..5007235 [GRCh37] Chr1:1p36.33-36.32	pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	copy number gain	See cases [RCV000510926]	Chr1:849467..249224684 [GRCh37] Chr1:1p36.33-q44	pathogenic
NM_182752.4(TPRG1L):c.721C>T (p.Arg241Cys)	single nucleotide variant	not specified [RCV004315523]	Chr1:3628505 [GRCh38] Chr1:3545069 [GRCh37] Chr1:1p36.32	uncertain significance
GRCh37/hg19 1p36.33-36.31(chr1:536777-6012896)x1	copy number loss	not provided [RCV003312163]	Chr1:536777..6012896 [GRCh37] Chr1:1p36.33-36.31	pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:849466-5352492)x1	copy number loss	See cases [RCV000512243]	Chr1:849466..5352492 [GRCh37] Chr1:1p36.33-36.32	pathogenic
GRCh37/hg19 1p36.33-36.23(chr1:849466-8901938)x1	copy number loss	See cases [RCV000512568]	Chr1:849466..8901938 [GRCh37] Chr1:1p36.33-36.23	pathogenic
GRCh37/hg19 1p36.33-36.31(chr1:834101-6076140)	copy number loss	Primary dilated cardiomyopathy [RCV000626523]	Chr1:834101..6076140 [GRCh37] Chr1:1p36.33-36.31	pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:849466-4262915)x1	copy number loss	not provided [RCV000684533]	Chr1:849466..4262915 [GRCh37] Chr1:1p36.33-36.32	pathogenic
GRCh37/hg19 1p36.33-36.23(chr1:849466-7305595)x1	copy number loss	not provided [RCV000684534]	Chr1:849466..7305595 [GRCh37] Chr1:1p36.33-36.23	pathogenic
GRCh37/hg19 1p36.32(chr1:2740166-3647525)x3	copy number gain	not provided [RCV000684541]	Chr1:2740166..3647525 [GRCh37] Chr1:1p36.32	uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3	copy number gain	not provided [RCV000736295]	Chr1:47851..249228449 [GRCh37] Chr1:1p36.33-q44	pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3	copy number gain	not provided [RCV000736305]	Chr1:82154..249218992 [GRCh37] Chr1:1p36.33-q44	pathogenic
GRCh37/hg19 1p36.33-36.31(chr1:47851-6659872)x1	copy number loss	not provided [RCV000736294]	Chr1:47851..6659872 [GRCh37] Chr1:1p36.33-36.31	pathogenic
GRCh37/hg19 1p36.33-36.23(chr1:82154-7936272)x1	copy number loss	not provided [RCV000736304]	Chr1:82154..7936272 [GRCh37] Chr1:1p36.33-36.23	pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:977062-5179574)x1	copy number loss	not provided [RCV000748814]	Chr1:977062..5179574 [GRCh37] Chr1:1p36.33-36.32	pathogenic
GRCh37/hg19 1p36.32(chr1:3539082-5247082)x1	copy number loss	not provided [RCV000748863]	Chr1:3539082..5247082 [GRCh37] Chr1:1p36.32	pathogenic
GRCh37/hg19 1p36.33-36.23(chr1:82154-7637060)x1	copy number loss	See cases [RCV000790584]	Chr1:82154..7637060 [GRCh37] Chr1:1p36.33-36.23	pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:568708-3662949)	copy number loss	Chromosome 1p36 deletion syndrome [RCV000767775]	Chr1:568708..3662949 [GRCh37] Chr1:1p36.33-36.32	pathogenic
GRCh37/hg19 1p36.33-36.31(chr1:1471075-5831645)	copy number gain	not provided [RCV000767773]	Chr1:1471075..5831645 [GRCh37] Chr1:1p36.33-36.31	pathogenic
GRCh37/hg19 1p36.33-36.22(chr1:82154-11784118)x1	copy number loss	See cases [RCV000790592]	Chr1:82154..11784118 [GRCh37] Chr1:1p36.33-36.22	pathogenic
GRCh37/hg19 1p36.33-36.31(chr1:823964-6828363)	copy number loss	Chromosome 1p36 deletion syndrome [RCV000767774]	Chr1:823964..6828363 [GRCh37] Chr1:1p36.33-36.31	pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:2261222-5304873)x1	copy number loss	See cases [RCV000790598]	Chr1:2261222..5304873 [GRCh37] Chr1:1p36.33-36.32	pathogenic
Single allele	deletion	Neurodevelopmental disorder [RCV000787413]	Chr1:554375..9779842 [GRCh37] Chr1:1p36.33-36.22	pathogenic
GRCh37/hg19 1p36.33-36.31(chr1:849466-5625566)x1	copy number loss	not provided [RCV001005059]	Chr1:849466..5625566 [GRCh37] Chr1:1p36.33-36.31	pathogenic
GRCh37/hg19 1p36.33-36.23(chr1:849466-7786545)x1	copy number loss	not provided [RCV001005057]	Chr1:849466..7786545 [GRCh37] Chr1:1p36.33-36.23	pathogenic
GRCh37/hg19 1p36.33-36.31(chr1:849466-6002955)x1	copy number loss	not provided [RCV001005058]	Chr1:849466..6002955 [GRCh37] Chr1:1p36.33-36.31	pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:2194087-4738355)x3	copy number gain	not provided [RCV002473692]	Chr1:2194087..4738355 [GRCh37] Chr1:1p36.33-36.32	uncertain significance
GRCh37/hg19 1p36.33-36.32(chr1:849466-4829059)x1	copy number loss	not provided [RCV001005060]	Chr1:849466..4829059 [GRCh37] Chr1:1p36.33-36.32	pathogenic
GRCh37/hg19 1p36.32-36.23(chr1:2420003-8155935)x1	copy number loss	Chromosome 1p36 deletion syndrome [RCV001535693]	Chr1:2420003..8155935 [GRCh37] Chr1:1p36.32-36.23	not provided
Single allele	deletion	Chromosome 1p36 deletion syndrome [RCV001250754]	Chr1:1670720..3816863 [GRCh37] Chr1:1p36.33-36.32	pathogenic
GRCh37/hg19 1p36.33-36.23(chr1:762080-7309686)	copy number loss	Harel-Yoon syndrome [RCV001254115]	Chr1:762080..7309686 [GRCh37] Chr1:1p36.33-36.23	likely pathogenic
GRCh37/hg19 1p36.32(chr1:3202162-4143527)x3	copy number gain	not provided [RCV001260108]	Chr1:3202162..4143527 [GRCh37] Chr1:1p36.32	uncertain significance
GRCh37/hg19 1p36.33-36.31(chr1:1-5592835)x1	copy number loss	not provided [RCV001260116]	Chr1:1..5592835 [GRCh37] Chr1:1p36.33-36.31	pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:753552-4034574)x1	copy number loss	not provided [RCV001795535]	Chr1:753552..4034574 [GRCh37] Chr1:1p36.33-36.32	pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:849466-4183006)	copy number loss	Chromosome 1p36 deletion syndrome [RCV002280716]	Chr1:849466..4183006 [GRCh37] Chr1:1p36.33-36.32	pathogenic
GRCh37/hg19 1p36.33-36.13(chr1:849466-17525065)x1	copy number loss	not provided [RCV001832902]	Chr1:849466..17525065 [GRCh37] Chr1:1p36.33-36.13	pathogenic
GRCh37/hg19 1p36.33-36.31(chr1:849466-5625566)	copy number loss	Chromosome 1p36 deletion syndrome [RCV002280715]	Chr1:849466..5625566 [GRCh37] Chr1:1p36.33-36.31	pathogenic
NC_000001.10:g.(?_861322)_(3768971_?)del	deletion	Combined immunodeficiency due to OX40 deficiency [RCV001919158]\|Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001923367]\|Joubert syndrome 25 [RCV001923368]\|Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency [RCV001919159]\|Peroxisome biogenesis disorder, complementation group 7 [RCV001919157]\|not provided [RCV001943250]	Chr1:861322..3768971 [GRCh37] Chr1:1p36.33-36.32	pathogenic\|uncertain significance\|no classifications from unflagged records
GRCh37/hg19 1p36.33-36.23(chr1:834101-7930605)x1	copy number loss	Chromosome 1p36 deletion syndrome [RCV002279763]	Chr1:834101..7930605 [GRCh37] Chr1:1p36.33-36.23	pathogenic
GRCh37/hg19 1p36.33-36.22(chr1:849466-10258804)	copy number loss	Chromosome 1p36 deletion syndrome, proximal [RCV002280717]	Chr1:849466..10258804 [GRCh37] Chr1:1p36.33-36.22	pathogenic
GRCh37/hg19 1p36.33-36.22(chr1:849467-12448956)x1	copy number loss	not provided [RCV002473951]	Chr1:849467..12448956 [GRCh37] Chr1:1p36.33-36.22	pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:2173570-5023430)x1	copy number loss	not provided [RCV002474579]	Chr1:2173570..5023430 [GRCh37] Chr1:1p36.33-36.32	pathogenic
NM_182752.4(TPRG1L):c.341A>T (p.Glu114Val)	single nucleotide variant	not specified [RCV004161745]	Chr1:3625760 [GRCh38] Chr1:3542324 [GRCh37] Chr1:1p36.32	uncertain significance
GRCh37/hg19 1p36.32(chr1:2974212-4408415)x3	copy number gain	not provided [RCV002474849]	Chr1:2974212..4408415 [GRCh37] Chr1:1p36.32	uncertain significance
NM_182752.4(TPRG1L):c.754A>T (p.Met252Leu)	single nucleotide variant	not specified [RCV004238550]	Chr1:3628538 [GRCh38] Chr1:3545102 [GRCh37] Chr1:1p36.32	uncertain significance
NM_182752.4(TPRG1L):c.16G>T (p.Asp6Tyr)	single nucleotide variant	not specified [RCV004113139]	Chr1:3625088 [GRCh38] Chr1:3541652 [GRCh37] Chr1:1p36.32	uncertain significance
NM_182752.4(TPRG1L):c.535T>C (p.Trp179Arg)	single nucleotide variant	not specified [RCV004085856]	Chr1:3627564 [GRCh38] Chr1:3544128 [GRCh37] Chr1:1p36.32	uncertain significance
NM_182752.4(TPRG1L):c.127C>T (p.Arg43Cys)	single nucleotide variant	not specified [RCV004144540]	Chr1:3625199 [GRCh38] Chr1:3541763 [GRCh37] Chr1:1p36.32	uncertain significance
NM_182752.4(TPRG1L):c.556G>A (p.Val186Met)	single nucleotide variant	not specified [RCV004077049]	Chr1:3627585 [GRCh38] Chr1:3544149 [GRCh37] Chr1:1p36.32	uncertain significance
NM_182752.4(TPRG1L):c.431C>T (p.Ser144Phe)	single nucleotide variant	not specified [RCV004197595]	Chr1:3625850 [GRCh38] Chr1:3542414 [GRCh37] Chr1:1p36.32	uncertain significance
NM_182752.4(TPRG1L):c.112G>A (p.Ala38Thr)	single nucleotide variant	not specified [RCV004160348]	Chr1:3625184 [GRCh38] Chr1:3541748 [GRCh37] Chr1:1p36.32	likely benign
NM_182752.4(TPRG1L):c.182A>G (p.Lys61Arg)	single nucleotide variant	not specified [RCV004167985]	Chr1:3625254 [GRCh38] Chr1:3541818 [GRCh37] Chr1:1p36.32	uncertain significance
NM_182752.4(TPRG1L):c.413A>G (p.Asn138Ser)	single nucleotide variant	not specified [RCV004175450]	Chr1:3625832 [GRCh38] Chr1:3542396 [GRCh37] Chr1:1p36.32	likely benign
NM_182752.4(TPRG1L):c.510A>T (p.Gln170His)	single nucleotide variant	not specified [RCV004078274]	Chr1:3627539 [GRCh38] Chr1:3544103 [GRCh37] Chr1:1p36.32	uncertain significance
GRCh38/hg38 1p36.32(chr1:2518272-4413203)	copy number gain	Anomalous pulmonary venous return [RCV003223566]	Chr1:2518272..4413203 [GRCh38] Chr1:1p36.32	uncertain significance
NM_182752.4(TPRG1L):c.550A>G (p.Thr184Ala)	single nucleotide variant	not specified [RCV004274984]	Chr1:3627579 [GRCh38] Chr1:3544143 [GRCh37] Chr1:1p36.32	uncertain significance
GRCh37/hg19 1p36.33-36.31(chr1:1957148-6553454)	copy number loss	Chromosome 1p36 deletion syndrome [RCV003319574]	Chr1:1957148..6553454 [GRCh37] Chr1:1p36.33-36.31	pathogenic
NM_182752.4(TPRG1L):c.722G>A (p.Arg241His)	single nucleotide variant	not specified [RCV004351352]	Chr1:3628506 [GRCh38] Chr1:3545070 [GRCh37] Chr1:1p36.32	uncertain significance
GRCh37/hg19 1p36.33-36.32(chr1:1687675-3638712)x3	copy number gain	not provided [RCV003484004]	Chr1:1687675..3638712 [GRCh37] Chr1:1p36.33-36.32	uncertain significance
GRCh37/hg19 1p36.33-36.32(chr1:1129319-3615916)x3	copy number gain	not provided [RCV003484001]	Chr1:1129319..3615916 [GRCh37] Chr1:1p36.33-36.32	pathogenic
GRCh37/hg19 1p36.33-36.22(chr1:849467-9627901)x1	copy number loss	not provided [RCV003482961]	Chr1:849467..9627901 [GRCh37] Chr1:1p36.33-36.22	pathogenic
GRCh37/hg19 1p36.32(chr1:2694517-4317372)x1	copy number loss	not provided [RCV003483005]	Chr1:2694517..4317372 [GRCh37] Chr1:1p36.32	uncertain significance
GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	copy number gain	Trisomy 12p [RCV003447845]	Chr1:99125..34026935 [GRCh38] Chr1:1p36.33-35.1	pathogenic
GRCh37/hg19 1p36.33-36.31(chr1:1959612-5471235)x1	copy number loss	not specified [RCV003986795]	Chr1:1959612..5471235 [GRCh37] Chr1:1p36.33-36.31	pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:849466-4529103)x3	copy number gain	not specified [RCV003986984]	Chr1:849466..4529103 [GRCh37] Chr1:1p36.33-36.32	pathogenic
GRCh37/hg19 1p36.33-36.23(chr1:849466-8966102)x1	copy number loss	not specified [RCV003986962]	Chr1:849466..8966102 [GRCh37] Chr1:1p36.33-36.23	pathogenic
NM_182752.4(TPRG1L):c.338C>T (p.Thr113Met)	single nucleotide variant	not specified [RCV004470956]	Chr1:3625757 [GRCh38] Chr1:3542321 [GRCh37] Chr1:1p36.32	uncertain significance
NM_182752.4(TPRG1L):c.19T>G (p.Ser7Ala)	single nucleotide variant	not specified [RCV004470955]	Chr1:3625091 [GRCh38] Chr1:3541655 [GRCh37] Chr1:1p36.32	uncertain significance
NM_182752.4(TPRG1L):c.85G>T (p.Gly29Cys)	single nucleotide variant	not specified [RCV004470957]	Chr1:3625157 [GRCh38] Chr1:3541721 [GRCh37] Chr1:1p36.32	uncertain significance

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	1388
Count of miRNA genes:	542
Interacting mature miRNAs:	586
Transcripts:	ENST00000344579, ENST00000378344
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

G20693

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	1	3,546,497 - 3,546,636	UniSTS	GRCh37
Build 36	1	3,536,357 - 3,536,496	RGD	NCBI36
Celera	1	2,801,599 - 2,801,738	RGD
Cytogenetic Map	1	p36.32	UniSTS
HuRef	1	2,842,890 - 2,843,029	UniSTS

A006C08

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	1	3,546,497 - 3,546,636	UniSTS	GRCh37
Build 36	1	3,536,357 - 3,536,496	RGD	NCBI36
Celera	1	2,801,599 - 2,801,738	RGD
Cytogenetic Map	1	p36.32	UniSTS
HuRef	1	2,842,890 - 2,843,029	UniSTS
GeneMap99-GB4 RH Map	1	17.52	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

visual system

adipose tissue

appendage

entire extraembryonic component

pharyngeal arch

High

Medium

2439

2934

1724

623

1932

464

4355

2150

3717

415

1459

1610

175

1204

2787

Low

Below cutoff

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_182752	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AK025409	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK025464	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK096427	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK289919	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK298343	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL513320	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC019034	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BI547609	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BX115868	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471130	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068277	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

RefSeq Acc Id:

ENST00000344579 ⟹ ENSP00000339714

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	3,625,050 - 3,630,127 (+)	Ensembl

RefSeq Acc Id:

ENST00000378344 ⟹ ENSP00000367595

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	3,625,015 - 3,630,127 (+)	Ensembl

RefSeq Acc Id:

NM_182752 ⟹ NP_877429

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	3,625,015 - 3,630,127 (+)	NCBI
GRCh37	1	3,541,556 - 3,546,695 (+)	RGD
Build 36	1	3,531,416 - 3,536,555 (+)	NCBI Archive
Celera	1	2,796,682 - 2,801,797 (+)	RGD
HuRef	1	2,837,972 - 2,843,088 (+)	ENTREZGENE
CHM1_1	1	3,528,259 - 3,533,375 (+)	NCBI
T2T-CHM13v2.0	1	3,135,110 - 3,140,200 (+)	NCBI

Sequence:

show sequence

GGCTGCGGCGACGGCGGTCGCGTCGGCGTCAGGGTCGGGGTCGGTAAGGGGTGCGGCAATGCTG
CAACTGCGGGACTCGGTGGACTCGGCCGGTACGAGCCCCACGGCGGTGCTGGCGGCCGGCGAGG
AGGTGGGGGCAGGCGGCGGCCCGGGCGGGGGGCGGCCGGGGGCGGGGACGCCGCTGCGCCAGAC
ACTCTGGCCTCTCAGCATCCACGACCCCACGCGCCGCGCCCGCGTCAAGGAGTACTTCGTGTTC
CGGCCCGGCAGCATCGAGCAGGCAGTGGAGGAGATCCGCGTGGTGGTGCGGCCCGTGGAGGACG
GCGAGATCCAGGGAGTGTGGCTGCTTACCGAGGTGGATCACTGGAACAATGAGAAGGAGCGGCT
GGTGCTGGTCACGGAGCAGTCCCTGCTTATCTGTAAATACGACTTCATCAGTCTCCAGTGCCAG
CAGGTGGTGCGGATAGCGCTCAACGCAGTAGACACCATTTCCTACGGAGAATTCCAGTTTCCCC
CTAAATCGCTCAACAAGCGAGAAGGTTTTGGGATTCGAATTCAGTGGGACAAGCAAAGTCGTCC
TTCCTTCATAAACAGATGGAATCCCTGGTCTACCAACGTGCCCTATGCCACTTTCACAGAACAC
CCGATGGCTGGCGCAGATGAGAAGACAGCATCTCTGTGTCAGTTGGAAAGCTTCAAGGCTCTGT
TAATCCAAGCTGTCAAAAAAGCCCAAAAAGAAAGCCCTTTGCCAGGACAGGCGAATGGCGTGCT
GATCCTGGAGCGCCCCCTGCTCATCGAGACCTACGTGGGACTCATGTCCTTCATTAACAACGAG
GCGAAACTGGGCTACTCCATGACCAGGGGCAAAATAGGCTTTTAGCCGCTGCGTTCTGGGAGCT
CCTCCCCCTTCTGGGAGCTCCTCCCCCTCCCCAGAAGGCCAAGGGATGTGGGGGCTGGGGGACT
GGGAGGCCTGGCAGTCTTCATGCTGCCCTGCTGCTGCTGGAAGGATGGGGATCTTTCACCTTTA
GGGATCTCAGCACAATTAGAATCGTAAAGTGAATTCTATCTATTTAATTGGATATTGGACTCTG
CTCATATAAGCTACAGACAAAAGCCAAAAGACTCTCGCTGTCCCTGTGCTGCTGGTATTTCATT
CTCTGTAACTTCAGTTCTGGTGTTTTCCTTGAGTATCTACTTGGCTTCTCGTGGTTTTTCCCAC
CCCAGCTGCCCCAGCACGCGGGACCCATAGCACACCCCTTAGCGCTTGCCTAGGTTGCTGAAAA
CAGGGAGGCACCTGGTATCTCGAGTGCCTGCAGTTGCAAGTATGTTTACACCTGGTGTCCAATT
TTGTATTTTAAAATGTAATCCATTTTTACTTCAGCTCATCCAAAAGCAGCCAGCAGACCGGTTG
ACTGAGACCGGTCTGTGGCTGTGGGCCCCTTGGTGACCCGCTGCTCTTTTGGAAATGGGTGACC
TGAAGTGACACTTTTTCCACAATTAACCCAAGTTGTGTTAATACTTCAGGTCTGTTTCCCAGAC
CCAGAAAGCTTTACAGAAAATCATTGTAAGACAATTTATTAATTTGAGAAAGTCACCTTGACAG
TTCTTTGCACACAAGTTTTACACCTCTCTGGATTCGAAGTTTGTATTGTATTCATAGTTAAAGG
GAATCGGGTACTTTGCTTGTTGAATAATGCACTTTAAAACAAGGAACCGTATCAGGCCAGCATG
GTGGCTCATGCCTGTAATCCCAGCATTTTGGGAGGCTCAGGCAGACAAATCGCTCTAGCTCAGA
AGTTGCAGAGCAGCCTGGGCAACATGGTGAAACCCGTCTCTACCAAACAGACAAAAAGCAGCCA
GGCGTGGTGGCACATCTGTGGTCCCAGCTACTTGAGAGGCTGAGCCAGGAGGATCGCTTGAGCC
CAGGAGGCGGAGGTTGCAGTGAGCTGAGATGGCACCACTTATTGCACTCCAGCCCGGGCGACAG
AGCGAGACTCCATCTACCAGATCCTTATGACGCAGCTGATGCCTGCCTTGGTTCCTACCACTCT
GGTGTAGACAGAGGACTTTGTCCAAGTCTCACACTAAACATGCCCGGGCTTCGATGTGCCTGGA
GGATTTCCCCACAGGGACCCACGCACCTCCCTGTATCTGCGCAGCTTGCTCGTGTGGCTGGAAG
CGCTGTCGATAAGCTTCACGCACTGGCTTGCCAGTTCTTCAGCTCTAGGACTTGTAGCTTTAAG
CAAACGGTGTGGCATGGGTTGAGTGTGGCCACCTGCAGGATGTGCAGGGCTGCCTCAGAAGCTG
GCTGGGGACTCTAGCCTCTGTGTTCATAAAGACATTAAGAAGTGGATGGATGTTGTTCCTTTTT
TGAAGTTGTCATTAAAGTAGGTGCAACAACCAA

hide sequence

Protein Sequences


Protein RefSeqs	NP_877429	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAH19034	(Get FASTA)	NCBI Sequence Viewer
	BAF82608	(Get FASTA)	NCBI Sequence Viewer
	BAG60590	(Get FASTA)	NCBI Sequence Viewer
	EAW71455	(Get FASTA)	NCBI Sequence Viewer
	EAW71456	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000339714.5
	ENSP00000367595
	ENSP00000367595.2
GenBank Protein	Q5T0D9	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:

NP_877429 ⟸ NM_182752

- UniProtKB:

A8K1K4 (UniProtKB/Swiss-Prot), Q8WV04 (UniProtKB/Swiss-Prot), Q5T0D9 (UniProtKB/Swiss-Prot), B4DPH8 (UniProtKB/TrEMBL)

- Sequence:

show sequence

MLQLRDSVDSAGTSPTAVLAAGEEVGAGGGPGGGRPGAGTPLRQTLWPLSIHDPTRRARVKEYF
VFRPGSIEQAVEEIRVVVRPVEDGEIQGVWLLTEVDHWNNEKERLVLVTEQSLLICKYDFISLQ
CQQVVRIALNAVDTISYGEFQFPPKSLNKREGFGIRIQWDKQSRPSFINRWNPWSTNVPYATFT
EHPMAGADEKTASLCQLESFKALLIQAVKKAQKESPLPGQANGVLILERPLLIETYVGLMSFIN
NEAKLGYSMTRGKIGF

hide sequence

RefSeq Acc Id:

ENSP00000367595 ⟸ ENST00000378344

RefSeq Acc Id:

ENSP00000339714 ⟸ ENST00000344579

Protein Domains

hSac2

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q5T0D9-F1-model_v2	AlphaFold	Q5T0D9	1-272	view protein structure

Promoters

RGD ID:

6786580

Promoter ID:

HG_KWN:337

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

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

Transcripts:

NM_182752, OTTHUMT00000001480, UC009VLJ.1

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	1	3,531,331 - 3,532,057 (-)	MPROMDB

RGD ID:

6853854

Promoter ID:

EPDNEW_H92

Type:

initiation region

Name:

TPRG1L_2

Description:

tumor protein p63 regulated 1 like

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H94

Experiment Methods:

Single-end sequencing.; Paired-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	3,619,618 - 3,619,678	EPDNEW

RGD ID:

6853858

Promoter ID:

EPDNEW_H94

Type:

initiation region

Name:

TPRG1L_1

Description:

tumor protein p63 regulated 1 like

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H92

Experiment Methods:

Single-end sequencing.; Paired-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	3,625,034 - 3,625,094	EPDNEW

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:27007	AgrOrtholog
COSMIC	TPRG1L	COSMIC
Ensembl Genes	ENSG00000158109	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000344579.5	UniProtKB/Swiss-Prot
	ENST00000378344	ENTREZGENE
	ENST00000378344.7	UniProtKB/Swiss-Prot
GTEx	ENSG00000158109	GTEx
HGNC ID	HGNC:27007	ENTREZGENE
Human Proteome Map	TPRG1L	Human Proteome Map
InterPro	hSac2	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Inositol_phosphatase	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	TPRG1-like	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	hsa:127262	UniProtKB/Swiss-Prot
NCBI Gene	127262	ENTREZGENE
OMIM	611460	OMIM
PANTHER	PTHR31108	UniProtKB/Swiss-Prot
	TUMOR PROTEIN P63-REGULATED GENE 1-LIKE PROTEIN	UniProtKB/Swiss-Prot
	TUMOR PROTEIN P63-REGULATED GENE 1-LIKE PROTEIN	UniProtKB/TrEMBL
	TUMOR PROTEIN P63-REGULATED GENE 1-LIKE PROTEIN	UniProtKB/TrEMBL
Pfam	hSac2	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA162406855	PharmGKB
PROSITE	HSAC2	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt	A8K1K4	ENTREZGENE
	B4DPH8	ENTREZGENE, UniProtKB/TrEMBL
	Q5T0D9	ENTREZGENE
	Q8WV04	ENTREZGENE
	TPRGL_HUMAN	UniProtKB/Swiss-Prot
UniProt Secondary	A8K1K4	UniProtKB/Swiss-Prot
	Q8WV04	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2016-08-02	TPRG1L	tumor protein p63 regulated 1 like		tumor protein p63 regulated 1-like	Symbol and/or name change	5135510	APPROVED

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

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

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

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

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Imported Disease Annotations - ClinVar