ACTRT2 (actin related protein T2)

Gene: ACTRT2 (actin related protein T2) Homo sapiens

Analyze

Symbol:

ACTRT2

Name:

actin related protein T2

RGD ID:

1606455

HGNC Page

HGNC:24026

Description:

Predicted to be located in cytoplasm and cytoskeleton.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

actin-related protein hArpM2; actin-related protein M2; actin-related protein T2; Arp-T2; ARPM2; ARPT2; FLJ25424; HARPM2

RGD Orthologs

Alliance Genes

More Info

more info ...

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	1	3,021,467 - 3,022,903 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	1	3,021,467 - 3,022,903 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	1	2,938,031 - 2,939,467 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	1	2,927,906 - 2,929,327 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	1	2,136,394 - 2,137,815 (+)	NCBI		Celera
Cytogenetic Map	1	p36.32	NCBI
HuRef	1	2,233,024 - 2,234,445 (+)	NCBI		HuRef
CHM1_1	1	2,925,090 - 2,926,511 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	1	2,523,087 - 2,524,523 (+)	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)

dilated cardiomyopathy 1LL (IAGP)

Ehlers-Danlos syndrome spondylodysplastic type 2 (IAGP)

genetic disease (IAGP)

Goldberg-Shprintzen syndrome (IAGP)

immunodeficiency 16 (IAGP)

immunodeficiency 38 (IAGP)

Joubert syndrome 25 (IAGP)

Keloid (EXP)

Neurodevelopmental Disorders (IAGP)

Peroxisome Biogenesis Disorder, Complementation Group 7 (IAGP)

Shprintzen-Goldberg Craniosynostosis (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

(S)-nicotine (ISO)

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

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

3,3',4,4',5-pentachlorobiphenyl (EXP)

4,4'-diaminodiphenylmethane (ISO)

6-propyl-2-thiouracil (ISO)

acetamiprid (ISO)

benzo[a]pyrene (EXP)

bisphenol A (EXP,ISO)

C60 fullerene (ISO)

CGP 52608 (EXP)

Cuprizon (ISO)

folic acid (EXP)

methoxychlor (ISO)

nicotine (ISO)

ozone (EXP)

perfluorooctanoic acid (EXP)

pregnenolone 16alpha-carbonitrile (ISO)

propiconazole (ISO)

sodium arsenite (EXP)

sulfadimethoxine (ISO)

tamoxifen (ISO)

titanium dioxide (ISO)

valproic acid (EXP,ISO)

vinclozolin (ISO)

Gene Ontology Annotations Click to see Annotation Detail View

Cellular Component

cytoplasm (IEA)

cytoskeleton (IEA)

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:11750065	PMID:12243744	PMID:12477932	PMID:15342556	PMID:15489334	PMID:18029348	PMID:21873635	PMID:33961781

Genomics

Comparative Map Data

ACTRT2
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	1	3,021,467 - 3,022,903 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	1	3,021,467 - 3,022,903 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	1	2,938,031 - 2,939,467 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	1	2,927,906 - 2,929,327 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	1	2,136,394 - 2,137,815 (+)	NCBI		Celera
Cytogenetic Map	1	p36.32	NCBI
HuRef	1	2,233,024 - 2,234,445 (+)	NCBI		HuRef
CHM1_1	1	2,925,090 - 2,926,511 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	1	2,523,087 - 2,524,523 (+)	NCBI		T2T-CHM13v2.0

Actrt2
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	4	154,750,885 - 154,752,324 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	4	154,750,890 - 154,752,324 (-)	Ensembl		GRCm39 Ensembl
GRCm38	4	154,666,428 - 154,667,867 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	4	154,666,433 - 154,667,867 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	4	154,040,537 - 154,041,976 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	4	153,510,234 - 153,511,533 (-)	NCBI		MGSCv36	mm8
Celera	4	156,945,512 - 156,946,951 (-)	NCBI		Celera
Cytogenetic Map	4	E2	NCBI
cM Map	4	84.69	NCBI

Actrt2
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	5	170,518,470 - 170,519,870 (-)	NCBI		GRCr8
mRatBN7.2	5	165,236,092 - 165,237,492 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	5	165,236,086 - 165,237,629 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	5	167,940,981 - 167,942,381 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	5	169,762,387 - 169,763,787 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	5	169,724,919 - 169,726,319 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	5	172,077,290 - 172,078,690 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	5	172,077,282 - 172,078,760 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	5	175,534,186 - 175,535,586 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	5	171,473,765 - 171,475,165 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	5	171,484,260 - 171,485,660 (-)	NCBI
Celera	5	163,443,936 - 163,445,336 (-)	NCBI		Celera
Cytogenetic Map	5	q36	NCBI

Actrt2
(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	8,465,620 - 8,466,744 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955486	8,465,523 - 8,466,841 (-)	NCBI	ChiLan1.0	ChiLan1.0

ACTRT2
(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	225,297,615 - 225,299,858 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	1	223,942,329 - 223,944,572 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	1	1,680,590 - 1,682,020 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	1	2,818,691 - 2,820,133 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	1	2,818,917 - 2,820,050 (+)	Ensembl	panpan1.1		panPan2

ACTRT2
(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	57,659,055 - 57,660,479 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	5	57,659,262 - 57,660,395 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	5	57,671,258 - 57,672,681 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	5	57,861,591 - 57,863,014 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	5	57,861,794 - 57,862,927 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	5	57,852,649 - 57,854,072 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	5	57,745,180 - 57,746,603 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	5	58,135,055 - 58,136,480 (+)	NCBI		UU_Cfam_GSD_1.0

Actrt2
(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	28,699,309 - 28,700,931 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936737	765,125 - 766,432 (-)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936737	765,125 - 766,432 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

ACTRT2
(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	64,664,641 - 64,665,774 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	6	64,664,484 - 64,665,774 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	6	59,253,686 - 59,255,135 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

ACTRT2
(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	128,660,029 - 128,665,485 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	20	128,660,121 - 128,661,254 (-)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666054	32,946,475 - 32,947,937 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Actrt2
(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	7,288,304 - 7,289,434 (-)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624818	7,288,206 - 7,289,499 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in ACTRT2
19 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
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 1q21.2(chr1:149041013-149699420)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050339]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050339]\|See cases [RCV000050339]	Chr1:149041013..149699420 [GRCh37] Chr1:1q21.2	benign
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 1p36.33-36.32(chr1:844347-3319395)x1	copy number loss	See cases [RCV000050647]	Chr1:844347..3319395 [GRCh38] Chr1:779727..3235959 [GRCh37] Chr1:769590..3225819 [NCBI36] Chr1:1p36.33-36.32	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 1p36.32(chr1:2659405-3273322)x3	copy number gain	See cases [RCV000051783]	Chr1:2659405..3273322 [GRCh38] Chr1:2590844..3189886 [GRCh37] Chr1:2580704..3179746 [NCBI36] Chr1:1p36.32	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(chr1:872305-3054463)x1	copy number loss	See cases [RCV000052065]	Chr1:872305..3054463 [GRCh38] Chr1:807685..2971027 [GRCh37] Chr1:797548..2960887 [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 1p36.33-36.32(chr1:1084373-3367776)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052069]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052069]\|See cases [RCV000052069]	Chr1:1084373..3367776 [GRCh38] Chr1:1019753..3284340 [GRCh37] Chr1:1009616..3274200 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:629044-3346226)x1	copy number loss	See cases [RCV000051994]	Chr1:629044..3346226 [GRCh38] Chr1:564424..3262790 [GRCh37] Chr1:554287..3252650 [NCBI36] Chr1:1p36.33-36.32	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 1p36.33-36.32(chr1:1482278-3152536)x1	copy number loss	See cases [RCV000052071]	Chr1:1482278..3152536 [GRCh38] Chr1:1417658..3069100 [GRCh37] Chr1:1407521..3058960 [NCBI36] Chr1:1p36.33-36.32	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
NM_080431.4(ACTRT2):c.132C>T (p.Phe44=)	single nucleotide variant	Malignant melanoma [RCV000064708]	Chr1:3021818 [GRCh38] Chr1:2938382 [GRCh37] Chr1:2928242 [NCBI36] Chr1:1p36.32	not provided
GRCh38/hg38 1p36.32(chr1:2701929-3319395)x1	copy number loss	See cases [RCV000133849]	Chr1:2701929..3319395 [GRCh38] Chr1:2633368..3235959 [GRCh37] Chr1:2623228..3225819 [NCBI36] Chr1:1p36.32	uncertain significance
GRCh38/hg38 1p36.32(chr1:2701929-3244518)x3	copy number gain	See cases [RCV000133635]	Chr1:2701929..3244518 [GRCh38] Chr1:2633368..3161082 [GRCh37] Chr1:2623228..3150942 [NCBI36] Chr1:1p36.32	uncertain significance
GRCh38/hg38 1p36.33-36.32(chr1:911300-3614487)x3	copy number gain	See cases [RCV000133658]	Chr1:911300..3614487 [GRCh38] Chr1:846680..3531051 [GRCh37] Chr1:836543..3520911 [NCBI36] Chr1:1p36.33-36.32	pathogenic
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 1p36.33-36.32(chr1:844353-3487877)x1	copy number loss	See cases [RCV000134747]	Chr1:844353..3487877 [GRCh38] Chr1:779733..3404441 [GRCh37] Chr1:769596..3394301 [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(chr1:2778184-3528282)x3	copy number gain	See cases [RCV000135557]	Chr1:2778184..3528282 [GRCh38] Chr1:2694731..3444846 [GRCh37] Chr1:2684591..3434706 [NCBI36] Chr1:1p36.32	likely benign
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 1p36.32(chr1:2701912-3244554)x3	copy number gain	See cases [RCV000136012]	Chr1:2701912..3244554 [GRCh38] Chr1:2633351..3161118 [GRCh37] Chr1:2623211..3150978 [NCBI36] Chr1:1p36.32	likely benign
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(chr1:821713-3569891)x1	copy number loss	See cases [RCV000138225]	Chr1:821713..3569891 [GRCh38] Chr1:757093..3486455 [GRCh37] Chr1:746956..3476315 [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 1p36.33-36.32(chr1:844353-3153909)x1	copy number loss	See cases [RCV000138704]	Chr1:844353..3153909 [GRCh38] Chr1:779733..3070473 [GRCh37] Chr1:769596..3060333 [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(chr1:821713-3438208)x1	copy number loss	See cases [RCV000139780]	Chr1:821713..3438208 [GRCh38] Chr1:757093..3354772 [GRCh37] Chr1:746956..3344632 [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 1p36.33-36.32(chr1:914086-3305463)x1	copy number loss	See cases [RCV000140894]	Chr1:914086..3305463 [GRCh38] Chr1:849466..3222027 [GRCh37] Chr1:839329..3211887 [NCBI36] Chr1:1p36.33-36.32	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(chr1:2688448-3286320)x3	copy number gain	See cases [RCV000141721]	Chr1:2688448..3286320 [GRCh38] Chr1:2619887..3202884 [GRCh37] Chr1:2609747..3192744 [NCBI36] Chr1:1p36.32	conflicting data from submitters
GRCh38/hg38 1p36.33-36.32(chr1:914086-3587042)x1	copy number loss	See cases [RCV000141668]	Chr1:914086..3587042 [GRCh38] Chr1:849466..3503606 [GRCh37] Chr1:839329..3493466 [NCBI36] Chr1:1p36.33-36.32	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 1p36.32(chr1:2999618-3203165)x3	copy number gain	See cases [RCV000142164]	Chr1:2999618..3203165 [GRCh38] Chr1:2916182..3119729 [GRCh37] Chr1:2906042..3109589 [NCBI36] Chr1:1p36.32	uncertain significance
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
GRCh37/hg19 1p36.32(chr1:2713327-3208375)x3	copy number gain	See cases [RCV000515597]	Chr1:2713327..3208375 [GRCh37] Chr1:1p36.32	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 1p36.33-36.21(chr1:746608-15077159)x1	copy number loss	See cases [RCV000240403]	Chr1:746608..15077159 [GRCh37] Chr1:1p36.33-36.21	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 1p36.33-36.32(chr1:874455-3177921)x1	copy number loss	See cases [RCV000240333]	Chr1:874455..3177921 [GRCh37] Chr1:1p36.33-36.32	pathogenic
GRCh37/hg19 1p36.32(chr1:2825682-3235959)x1	copy number loss	See cases [RCV000240435]	Chr1:2825682..3235959 [GRCh37] Chr1:1p36.32	uncertain significance
GRCh37/hg19 1p36.32(chr1:2785042-3265702)x1	copy number loss	See cases [RCV000240402]	Chr1:2785042..3265702 [GRCh37] Chr1:1p36.32	uncertain significance
GRCh37/hg19 1p36.33-36.32(chr1:849466-3396845)x3	copy number gain	See cases [RCV000449132]	Chr1:849466..3396845 [GRCh37] Chr1:1p36.33-36.32	pathogenic
GRCh37/hg19 1p36.32(chr1:2628157-3202884)x3	copy number gain	See cases [RCV000449286]	Chr1:2628157..3202884 [GRCh37] Chr1:1p36.32	uncertain significance
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 1p36.32-36.12(chr1:2749920-22564787)x1	copy number loss	See cases [RCV000446470]	Chr1:2749920..22564787 [GRCh37] Chr1:1p36.32-36.12	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 1p36.33-36.32(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-q44(chr1:849467-249224684)x3	copy number gain	See cases [RCV000510383]	Chr1:849467..249224684 [GRCh37] Chr1:1p36.33-q44	pathogenic
GRCh37/hg19 1p36.33-36.32(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 1p36.33-36.31(chr1:849466-6505278)x1	copy number loss	See cases [RCV000510494]	Chr1:849466..6505278 [GRCh37] Chr1:1p36.33-36.31	pathogenic
GRCh37/hg19 1p36.33-36.23(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
GRCh37/hg19 1p36.32(chr1:2619887-3235416)x3	copy number gain	See cases [RCV000511215]	Chr1:2619887..3235416 [GRCh37] Chr1:1p36.32	uncertain significance
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 1p36.33-36.32(chr1:849466-5352492)x1	copy number loss	See cases [RCV000512243]	Chr1:849466..5352492 [GRCh37] Chr1:1p36.33-36.32	pathogenic
GRCh37/hg19 1p36.33-36.32(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 1p36.33-36.32(chr1:2190850-3503606)x1	copy number loss	not provided [RCV000684537]	Chr1:2190850..3503606 [GRCh37] Chr1:1p36.33-36.32	pathogenic
GRCh37/hg19 1p36.32(chr1:2419098-3222541)x3	copy number gain	not provided [RCV000684539]	Chr1:2419098..3222541 [GRCh37] Chr1:1p36.32	uncertain significance
GRCh37/hg19 1p36.32(chr1:2621576-3202884)x3	copy number gain	not provided [RCV000684540]	Chr1:2621576..3202884 [GRCh37] Chr1:1p36.32	uncertain significance
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 1p36.33-36.32(chr1:82154-3340855)x1	copy number loss	not provided [RCV000736303]	Chr1:82154..3340855 [GRCh37] Chr1:1p36.33-36.32	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(chr1:2700372-3208375)x3	copy number gain	not provided [RCV000748853]	Chr1:2700372..3208375 [GRCh37] Chr1:1p36.32	benign
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 1p36.33-36.31(chr1:823964-6828363)	copy number loss	Chromosome 1p36 deletion syndrome [RCV000767774]	Chr1:823964..6828363 [GRCh37] Chr1:1p36.33-36.31	pathogenic
GRCh37/hg19 1p36.33-36.23(chr1:82154-7637060)x1	copy number loss	See cases [RCV000790584]	Chr1:82154..7637060 [GRCh37] Chr1:1p36.33-36.23	pathogenic
GRCh37/hg19 1p36.33-36.22(chr1:82154-11784118)x1	copy number loss	See cases [RCV000790592]	Chr1:82154..11784118 [GRCh37] Chr1:1p36.33-36.22	pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:1723651-3444846)x1	copy number loss	Chromosome 1p36 deletion syndrome [RCV000856630]	Chr1:1723651..3444846 [GRCh37] Chr1:1p36.33-36.32	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
NC_000001.10:g.(?_955543)_(2957600_?)del	deletion	Shprintzen-Goldberg syndrome [RCV000816642]	Chr1:955543..2957600 [GRCh37] Chr1:1p36.33-36.32	uncertain significance
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 1p36.33-36.32(chr1:82154-3349513)x3	copy number gain	See cases [RCV001007411]	Chr1:82154..3349513 [GRCh37] Chr1:1p36.33-36.32	pathogenic
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 1p36.33-36.31(chr1:849466-6002955)x1	copy number loss	not provided [RCV001005058]	Chr1:849466..6002955 [GRCh37] Chr1:1p36.33-36.31	pathogenic
GRCh37/hg19 1p36.33-36.31(chr1:849466-5625566)x1	copy number loss	not provided [RCV001005059]	Chr1:849466..5625566 [GRCh37] Chr1:1p36.33-36.31	pathogenic
NM_080431.5(ACTRT2):c.29C>G (p.Pro10Arg)	single nucleotide variant	Inborn genetic diseases [RCV002748747]	Chr1:3021715 [GRCh38] Chr1:2938279 [GRCh37] Chr1:1p36.32	uncertain significance
GRCh37/hg19 1p36.32(chr1:2582760-3177921)x3	copy number gain	See cases [RCV003236763]	Chr1:2582760..3177921 [GRCh37] Chr1:1p36.32	likely benign
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
NC_000001.10:g.(?_955543)_(3350385_?)del	deletion	Left ventricular noncompaction 8 [RCV001033604]	Chr1:955543..3350385 [GRCh37] Chr1:1p36.33-36.32	uncertain significance
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
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
Single allele	deletion	Chromosome 1p36 deletion syndrome [RCV001250754]	Chr1:1670720..3816863 [GRCh37] Chr1:1p36.33-36.32	pathogenic
GRCh37/hg19 1p36.32(chr1:2694731-3190921)x3	copy number gain	Intellectual disability [RCV001251058]	Chr1:2694731..3190921 [GRCh37] Chr1:1p36.32	uncertain significance
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 1p36.33-36.31(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 1p36.33-36.31(chr1:849466-5625566)	copy number loss	Chromosome 1p36 deletion syndrome [RCV002280715]	Chr1:849466..5625566 [GRCh37] Chr1:1p36.33-36.31	pathogenic
GRCh37/hg19 1p36.32(chr1:2701630-3003490)x3	copy number gain	not provided [RCV001827861]	Chr1:2701630..3003490 [GRCh37] Chr1:1p36.32	uncertain significance
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
NC_000001.10:g.(?_989123)_(3160711_?)del	deletion	Left ventricular noncompaction 8 [RCV002004579]	Chr1:989123..3160711 [GRCh37] Chr1:1p36.33-36.32	uncertain significance
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
NC_000001.10:g.(?_955553)_(3350375_?)del	deletion	Left ventricular noncompaction 8 [RCV001955735]	Chr1:955553..3350375 [GRCh37] Chr1:1p36.33-36.32	uncertain significance
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 1p36.33-36.23(chr1:834101-7930605)x1	copy number loss	Chromosome 1p36 deletion syndrome [RCV002279763]	Chr1:834101..7930605 [GRCh37] Chr1:1p36.33-36.23	pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:849466-4183006)	copy number loss	Chromosome 1p36 deletion syndrome [RCV002280716]	Chr1:849466..4183006 [GRCh37] Chr1:1p36.33-36.32	pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:2173570-5023430)x1	copy number loss	not provided [RCV002474579]	Chr1:2173570..5023430 [GRCh37] Chr1:1p36.33-36.32	pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:849467-2972435)x1	copy number loss	not provided [RCV002472529]	Chr1:849467..2972435 [GRCh37] Chr1:1p36.33-36.32	pathogenic
GRCh37/hg19 1p36.32(chr1:2621577-3021311)x3	copy number gain	not provided [RCV002474975]	Chr1:2621577..3021311 [GRCh37] Chr1:1p36.32	uncertain significance
GRCh37/hg19 1p36.32(chr1:2628158-3191234)x3	copy number gain	not provided [RCV002474802]	Chr1:2628158..3191234 [GRCh37] Chr1:1p36.32	uncertain significance
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
NM_080431.5(ACTRT2):c.682G>A (p.Glu228Lys)	single nucleotide variant	Inborn genetic diseases [RCV003012863]	Chr1:3022368 [GRCh38] Chr1:2938932 [GRCh37] Chr1:1p36.32	uncertain significance
NM_080431.5(ACTRT2):c.226G>A (p.Glu76Lys)	single nucleotide variant	Inborn genetic diseases [RCV002752619]	Chr1:3021912 [GRCh38] Chr1:2938476 [GRCh37] Chr1:1p36.32	uncertain significance
NM_080431.5(ACTRT2):c.776C>T (p.Ala259Val)	single nucleotide variant	Inborn genetic diseases [RCV002661771]	Chr1:3022462 [GRCh38] Chr1:2939026 [GRCh37] Chr1:1p36.32	uncertain significance
NM_080431.5(ACTRT2):c.44A>G (p.Asp15Gly)	single nucleotide variant	Inborn genetic diseases [RCV002910818]	Chr1:3021730 [GRCh38] Chr1:2938294 [GRCh37] Chr1:1p36.32	uncertain significance
NM_080431.5(ACTRT2):c.963G>T (p.Gln321His)	single nucleotide variant	Inborn genetic diseases [RCV002782918]	Chr1:3022649 [GRCh38] Chr1:2939213 [GRCh37] Chr1:1p36.32	uncertain significance
NM_080431.5(ACTRT2):c.139C>T (p.Pro47Ser)	single nucleotide variant	Inborn genetic diseases [RCV002924489]	Chr1:3021825 [GRCh38] Chr1:2938389 [GRCh37] Chr1:1p36.32	uncertain significance
NM_080431.5(ACTRT2):c.905C>T (p.Ser302Leu)	single nucleotide variant	Inborn genetic diseases [RCV002739878]	Chr1:3022591 [GRCh38] Chr1:2939155 [GRCh37] Chr1:1p36.32	uncertain significance
NM_080431.5(ACTRT2):c.500T>A (p.Val167Asp)	single nucleotide variant	Inborn genetic diseases [RCV002827929]	Chr1:3022186 [GRCh38] Chr1:2938750 [GRCh37] Chr1:1p36.32	uncertain significance
NM_080431.5(ACTRT2):c.793G>A (p.Val265Met)	single nucleotide variant	Inborn genetic diseases [RCV002986420]	Chr1:3022479 [GRCh38] Chr1:2939043 [GRCh37] Chr1:1p36.32	uncertain significance
NM_080431.5(ACTRT2):c.359G>A (p.Arg120His)	single nucleotide variant	Inborn genetic diseases [RCV002697330]	Chr1:3022045 [GRCh38] Chr1:2938609 [GRCh37] Chr1:1p36.32	uncertain significance
NM_080431.5(ACTRT2):c.397G>A (p.Val133Met)	single nucleotide variant	Inborn genetic diseases [RCV002956007]	Chr1:3022083 [GRCh38] Chr1:2938647 [GRCh37] Chr1:1p36.32	uncertain significance
NM_080431.5(ACTRT2):c.1114G>C (p.Val372Leu)	single nucleotide variant	Inborn genetic diseases [RCV002742093]	Chr1:3022800 [GRCh38] Chr1:2939364 [GRCh37] Chr1:1p36.32	uncertain significance
NM_080431.5(ACTRT2):c.1081G>A (p.Ala361Thr)	single nucleotide variant	Inborn genetic diseases [RCV002964530]	Chr1:3022767 [GRCh38] Chr1:2939331 [GRCh37] Chr1:1p36.32	uncertain significance
NM_080431.5(ACTRT2):c.941G>A (p.Arg314Gln)	single nucleotide variant	Inborn genetic diseases [RCV002677023]	Chr1:3022627 [GRCh38] Chr1:2939191 [GRCh37] Chr1:1p36.32	uncertain significance
NM_080431.5(ACTRT2):c.16G>A (p.Ala6Thr)	single nucleotide variant	Inborn genetic diseases [RCV003172965]	Chr1:3021702 [GRCh38] Chr1:2938266 [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
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_080431.5(ACTRT2):c.896T>C (p.Ile299Thr)	single nucleotide variant	Inborn genetic diseases [RCV003354049]	Chr1:3022582 [GRCh38] Chr1:2939146 [GRCh37] Chr1:1p36.32	uncertain significance
NM_080431.5(ACTRT2):c.612C>A (p.Phe204Leu)	single nucleotide variant	Inborn genetic diseases [RCV003352617]	Chr1:3022298 [GRCh38] Chr1:2938862 [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 1p36.33-36.32(chr1:849467-3500877)x1	copy number loss	not provided [RCV003482983]	Chr1:849467..3500877 [GRCh37] Chr1:1p36.33-36.32	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 1p36.33-36.23(chr1:849466-8966102)x1	copy number loss	not specified [RCV003986962]	Chr1:849466..8966102 [GRCh37] Chr1:1p36.33-36.23	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
NM_080431.5(ACTRT2):c.600C>T (p.Ser200=)	single nucleotide variant	not provided [RCV003884859]	Chr1:3022286 [GRCh38] Chr1:2938850 [GRCh37] Chr1:1p36.32	likely benign

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	291
Count of miRNA genes:	275
Interacting mature miRNAs:	291
Transcripts:	ENST00000378404
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.

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
High
Medium	1		1				2	2	1		368	1			2
Low	20	9	17	4	4	3	31	8	11	2	25	14	1	9	16
Below cutoff	705	761	523	141	329	86	1080	539	1060	46	293	425	55	346	675

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_080431	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AB057364	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF440740	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK058153	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK314500	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL356984	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AW016204	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC029499	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BI825639	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BP370015	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471248	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068277	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	HC006780	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

RefSeq Acc Id:

ENST00000378404 ⟹ ENSP00000367658

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	3,021,467 - 3,022,903 (+)	Ensembl

RefSeq Acc Id:

NM_080431 ⟹ NP_536356

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	3,021,467 - 3,022,903 (+)	NCBI
GRCh37	1	2,938,046 - 2,939,467 (+)	RGD
Build 36	1	2,927,906 - 2,929,327 (+)	NCBI Archive
Celera	1	2,136,394 - 2,137,815 (+)	RGD
HuRef	1	2,233,024 - 2,234,445 (+)	ENTREZGENE
CHM1_1	1	2,925,090 - 2,926,511 (+)	NCBI
T2T-CHM13v2.0	1	2,523,087 - 2,524,523 (+)	NCBI

Sequence:

show sequence

AACCCCCTGGCCCCCTGGAAGAGGCCTCAGCAGGCCCAGGCCACCTGGAGGGAGAGCAGACCTG
CGGCTGAGGATGCAGGGCTCCCGGGCACGGTGCTAGCCCTGCCTTGAGACACCCCGAGAGCTGT
GGGAAGAGCTGTGGGATCCCCTATTGCATCACAAAGCGGCCCTGGAGGGCTGGTCTTTATTTTG
ATGAGGCTGAGAAGGGAAGGCTGCGGGCATGTTTAATCCGCACGCTTTAGACTCCCCGGCTGTG
ATTTTTGACAATGGCTCGGGGTTCTGCAAAGCGGGCCTGTCTGGGGAGTTTGGACCCCGGCACA
TGGTCAGCTCCATCGTGGGGCACCTGAAATTCCAGGCTCCCTCAGCAGAGGCCAACCAGAAGAA
GTACTTTGTGGGGGAGGAGGCCCTGTACAAGCAGGAGGCCCTGCAGCTGCACTCCCCTTTCGAG
CGTGGCCTGATCACAGGGTGGGATGACGTGGAGAGACTCTGGAAGCACCTCTTTGAGTGGGAGC
TAGGCGTGAAACCCAGCGACCAGCCCCTGCTTGCAACGGAGCCCTCCCTGAACCCCAGGGAGAA
CCGTGAGAAGATGGCAGAAGTCATGTTCGAGAACTTCGGCGTGCCCGCTTTCTACCTGTCGGAC
CAGGCGGTGCTGGCTCTCTACGCCTCTGCCTGTGTCACGGGCCTGGTGGTGGACAGCGGGGATG
CGGTCACCTGCACTGTCCCCATCTTTGAGGGTTACTCCCTGCCCCACGCAGTCACCAAGCTCCA
CGTGGCGGGCAGGGACATCACGGAGCTCCTCATGCAGCTGCTCCTGGCCAGCGGCCACACCTTC
CCCTGCCAGCTGGACAAGGGTCTCGTGGACGACATCAAAAAGAAGCTGTGCTACGTGGCCTTGG
AGCCCGAGAAGGAGCTTTCCCGGAGGCCGGAGGAGGTCCTGAGGGAGTACAAGCTGCCCGACGG
GAACATCATCAGCCTCGGGGACCCGCTGCACCAGGCGCCCGAGGCCCTGTTCGTGCCCCAGCAG
CTGGGCAGCCAGAGCCCCGGGCTCTCGAATATGGTCTCCAGCAGCATCACCAAGTGTGATACCG
ACATCCAGAAGATCCTCTTTGGGGAGATTGTGCTGTCGGGGGGCACTACCCTGTTCCACGGGCT
GGATGACCGGCTTCTCAAGGAGCTGGAGCAGCTGGCCTCCAAGGACACCCCCATCAAGATCACG
GCTCCCCCCGACCGGTGGTTCTCCACCTGGATTGGAGCCTCCATCGTCACCTCTCTGAGTAGCT
TCAAGCAGATGTGGGTCACCGCCGCAGACTTCAAGGAGTTTGGGACCTCCGTGGTGCAGAGAAG
ATGCTTCTGAAGGCCGCTTCTCGTTGGGTACCGTGGGGGGTGAACCCTAGCCCCAGCTTTGGGA
GGATGTTCAATAAAGGACCAATGCCGGAA

hide sequence

Protein Sequences


Protein RefSeqs	NP_536356	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAH29499	(Get FASTA)	NCBI Sequence Viewer
	AAM00433	(Get FASTA)	NCBI Sequence Viewer
	BAB71690	(Get FASTA)	NCBI Sequence Viewer
	BAB85862	(Get FASTA)	NCBI Sequence Viewer
	BAG37100	(Get FASTA)	NCBI Sequence Viewer
	CBH19196	(Get FASTA)	NCBI Sequence Viewer
	EAW61142	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000367658
	ENSP00000367658.2
GenBank Protein	Q8TDY3	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:

NP_536356 ⟸ NM_080431

- UniProtKB:

Q8NHS6 (UniProtKB/Swiss-Prot), B1AN52 (UniProtKB/Swiss-Prot), Q8TDG1 (UniProtKB/Swiss-Prot), Q8TDY3 (UniProtKB/Swiss-Prot), B2RB53 (UniProtKB/TrEMBL)

- Sequence:

show sequence

MFNPHALDSPAVIFDNGSGFCKAGLSGEFGPRHMVSSIVGHLKFQAPSAEANQKKYFVGEEALY
KQEALQLHSPFERGLITGWDDVERLWKHLFEWELGVKPSDQPLLATEPSLNPRENREKMAEVMF
ENFGVPAFYLSDQAVLALYASACVTGLVVDSGDAVTCTVPIFEGYSLPHAVTKLHVAGRDITEL
LMQLLLASGHTFPCQLDKGLVDDIKKKLCYVALEPEKELSRRPEEVLREYKLPDGNIISLGDPL
HQAPEALFVPQQLGSQSPGLSNMVSSSITKCDTDIQKILFGEIVLSGGTTLFHGLDDRLLKELE
QLASKDTPIKITAPPDRWFSTWIGASIVTSLSSFKQMWVTAADFKEFGTSVVQRRCF

hide sequence

RefSeq Acc Id:

ENSP00000367658 ⟸ ENST00000378404

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q8TDY3-F1-model_v2	AlphaFold	Q8TDY3	1-377	view protein structure

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:24026	AgrOrtholog
COSMIC	ACTRT2	COSMIC
Ensembl Genes	ENSG00000169717	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000378404	ENTREZGENE
	ENST00000378404.4	UniProtKB/Swiss-Prot
Gene3D-CATH	3.30.420.40	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx	ENSG00000169717	GTEx
HGNC ID	HGNC:24026	ENTREZGENE
Human Proteome Map	ACTRT2	Human Proteome Map
InterPro	Actin	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Actin/actin-like_CS	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	ATPase_NBD	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	hsa:140625	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene	140625	ENTREZGENE
OMIM	608535	OMIM
PANTHER	PTHR11937	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	PTHR11937:SF38	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam	Actin	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA142672647	PharmGKB
PRINTS	ACTIN	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE	ACTINS_ACT_LIKE	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART	ACTIN	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP	SSF53067	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt	ACTT2_HUMAN	UniProtKB/Swiss-Prot
	B1AN52	ENTREZGENE
	B2RB53	ENTREZGENE, UniProtKB/TrEMBL
	Q8NHS6	ENTREZGENE
	Q8TDG1	ENTREZGENE
	Q8TDY3	ENTREZGENE
	Q96LK1_HUMAN	UniProtKB/TrEMBL
UniProt Secondary	B1AN52	UniProtKB/Swiss-Prot
	Q8NHS6	UniProtKB/Swiss-Prot
	Q8TDG1	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2015-12-08	ACTRT2	actin related protein T2	ACTRT2	actin-related protein T2	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)

Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

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Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD