SMIM1 (small integral membrane protein 1 (Vel blood group))

Gene: SMIM1 (small integral membrane protein 1 (Vel blood group)) Homo sapiens

Analyze

Symbol:

SMIM1

Name:

small integral membrane protein 1 (Vel blood group)

RGD ID:

6767479

HGNC Page

HGNC:44204

Description:

Enables protein homodimerization activity. Located in cell surface and plasma membrane.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

small integral membrane protein 1; uncharacterized protein LOC388588; Vel; vel blood group antigen

RGD Orthologs

Alliance Orthologs

More Info

more info ...

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	1	3,772,749 - 3,775,956 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	1	3,772,749 - 3,775,982 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	1	3,689,313 - 3,692,520 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	1	3,679,249 - 3,682,406 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	1	2,943,389 - 2,946,586 (+)	NCBI		Celera
Cytogenetic Map	1	p36.32	NCBI
HuRef	1	2,984,541 - 2,987,738 (+)	NCBI		HuRef
CHM1_1	1	3,676,374 - 3,679,562 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	1	3,284,345 - 3,287,549 (+)	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

(+)-schisandrin B (ISO)

(1->4)-beta-D-glucan (ISO)

2,2',4,4',5,5'-hexachlorobiphenyl (ISO)

2,2',5,5'-tetrachlorobiphenyl (ISO)

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

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

4-hydroxyphenyl retinamide (ISO)

acetamide (ISO)

aflatoxin B1 (EXP)

all-trans-retinoic acid (EXP)

aristolochic acid A (EXP)

benzo[a]pyrene (EXP)

bisphenol A (ISO)

caffeine (EXP)

carbon nanotube (ISO)

copper atom (EXP)

copper(0) (EXP)

crocidolite asbestos (ISO)

endosulfan (ISO)

epoxiconazole (ISO)

ethanol (ISO)

FR900359 (EXP)

furan (ISO)

gentamycin (ISO)

indole-3-methanol (ISO)

paracetamol (ISO)

paraquat (ISO)

PCB138 (ISO)

perfluorooctane-1-sulfonic acid (ISO)

phenobarbital (ISO)

propanal (EXP)

sodium dichromate (ISO)

sunitinib (EXP)

testosterone (ISO)

tetrachloromethane (ISO)

thioacetamide (ISO)

trichloroethene (ISO)

urethane (EXP)

valdecoxib (ISO)

valproic acid (EXP)

vinclozolin (ISO)

Gene Ontology Annotations Click to see Annotation Detail View

Cellular Component

cell surface (IDA,IMP)

membrane (IEA)

plasma membrane (IDA,IEA,IMP)

Molecular Function

protein binding (IPI)

protein homodimerization activity (IDA)

References

References - curated

#	Reference Title	Reference Citation
1.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions

Additional References at PubMed

PMID:12477932	PMID:21873635	PMID:23376485	PMID:23505126	PMID:23563606	PMID:23563608	PMID:23720494	PMID:25647324	PMID:26452714	PMID:26666208	PMID:27328373	PMID:28084402
PMID:29517970	PMID:31218697	PMID:31879955	PMID:32296183	PMID:32301496	PMID:33128268	PMID:33845483	PMID:36949045

Genomics

Comparative Map Data

SMIM1
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	1	3,772,749 - 3,775,956 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	1	3,772,749 - 3,775,982 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	1	3,689,313 - 3,692,520 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	1	3,679,249 - 3,682,406 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	1	2,943,389 - 2,946,586 (+)	NCBI		Celera
Cytogenetic Map	1	p36.32	NCBI
HuRef	1	2,984,541 - 2,987,738 (+)	NCBI		HuRef
CHM1_1	1	3,676,374 - 3,679,562 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	1	3,284,345 - 3,287,549 (+)	NCBI		T2T-CHM13v2.0

Smim1
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	4	154,104,927 - 154,110,550 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	4	154,104,927 - 154,110,687 (-)	Ensembl		GRCm39 Ensembl
GRCm38	4	154,020,470 - 154,026,085 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	4	154,020,470 - 154,026,230 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	4	153,394,579 - 153,400,153 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	4	152,867,111 - 152,869,950 (-)	NCBI		MGSCv36	mm8
Celera	4	156,307,940 - 156,313,514 (-)	NCBI		Celera
Cytogenetic Map	4	E2	NCBI
cM Map	4	83.79	NCBI

Smim1
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	5	169,861,751 - 169,867,070 (-)	NCBI		GRCr8
mRatBN7.2	5	164,579,327 - 164,584,650 (-)	NCBI	mRatBN7.2	mRatBN7.2
UTH_Rnor_SHR_Utx	5	167,285,934 - 167,288,625 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	5	169,107,344 - 169,110,035 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	5	169,069,792 - 169,072,483 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	5	171,306,836 - 171,312,109 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	5	171,309,335 - 171,312,026 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	5	174,798,370 - 174,803,636 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	5	170,809,728 - 170,812,420 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
Celera	5	162,793,811 - 162,796,502 (-)	NCBI		Celera
Cytogenetic Map	5	q36	NCBI

Smim1
(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	7,889,510 - 7,894,567 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955486	7,889,510 - 7,895,281 (-)	NCBI	ChiLan1.0	ChiLan1.0

SMIM1
(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	224,532,927 - 224,536,256 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	1	223,176,956 - 223,180,285 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	1	2,444,126 - 2,447,455 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	1	3,565,845 - 3,569,137 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	1	3,565,845 - 3,569,137 (+)	Ensembl	panpan1.1		panPan2

SMIM1
(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	58,281,962 - 58,285,071 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	5	58,282,347 - 58,284,616 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	5	58,292,383 - 58,295,501 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	5	58,489,482 - 58,492,600 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	5	58,489,876 - 58,492,145 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	5	58,497,226 - 58,500,344 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	5	58,366,170 - 58,369,288 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	5	58,756,393 - 58,759,511 (+)	NCBI		UU_Cfam_GSD_1.0

Smim1
(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	29,322,159 - 29,324,704 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936737	140,702 - 143,791 (-)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936737	141,024 - 141,851 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

SMIM1
(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	65,255,823 - 65,259,126 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	6	65,255,792 - 65,259,129 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	6	60,005,916 - 60,006,830 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

SMIM1
(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	127,900,506 - 127,904,242 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	20	127,900,976 - 127,903,371 (-)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666054	32,111,906 - 32,115,692 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Smim1
(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	6,752,595 - 6,753,126 (-)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624818	6,749,893 - 6,755,460 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in SMIM1
6 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
NM_001288583.2(SMIM1):c.64_80del (p.Ser22fs)	deletion	Vel blood group system [RCV000043586]	Chr1:3775434..3775450 [GRCh38] Chr1:3691998..3692014 [GRCh37] Chr1:1p36.32	pathogenic\|affects
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(chr1:1181847-5507243)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 1p36.33-36.31(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 1p36.33-36.32(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
GRCh38/hg38 1p36.32(chr1:3712088-4027367)x4	copy number gain	See cases [RCV000133657]	Chr1:3712088..4027367 [GRCh38] Chr1:3628652..4087427 [GRCh37] Chr1:3618512..3987287 [NCBI36] Chr1:1p36.32	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 1p36.33-36.32(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(chr1:844347-4398122)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 1p36.33-36.31(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 1p36.33-36.23(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 1p36.32(chr1:3695587-4084682)x3	copy number gain	See cases [RCV000137798]	Chr1:3695587..4084682 [GRCh38] Chr1:3612151..4144742 [GRCh37] Chr1:3602011..4044602 [NCBI36] Chr1:1p36.32	uncertain significance
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 1p36.33-36.31(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(chr1:821713-5099990)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 1p36.33-36.22(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 1p36.33-36.32(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 1p36.32(chr1:3683105-3712456)x3	copy number gain	See cases [RCV000447447]	Chr1:3683105..3712456 [GRCh37] Chr1:1p36.32	uncertain significance
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
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 1p36.33-36.23(chr1:849466-7305595)x1	copy number loss	not provided [RCV000684534]	Chr1:849466..7305595 [GRCh37] Chr1:1p36.33-36.23	pathogenic
GRCh37/hg19 1p36.33-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 1p36.32(chr1:3646137-3701663)x3	copy number gain	not provided [RCV000736362]	Chr1:3646137..3701663 [GRCh37] Chr1:1p36.32	benign
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 1p36.32(chr1:3646291-3706538)x3	copy number gain	not provided [RCV000736363]	Chr1:3646291..3706538 [GRCh37] Chr1:1p36.32	benign
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 1p36.32(chr1:3592187-3781096)x3	copy number gain	not provided [RCV000748864]	Chr1:3592187..3781096 [GRCh37] Chr1:1p36.32	benign
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 1p36.33-36.23(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 1p36.33-36.31(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 1p36.33-36.32(chr1:2194087-4738355)x3	copy number gain	not provided [RCV002473692]	Chr1:2194087..4738355 [GRCh37] Chr1:1p36.33-36.32	uncertain significance
GRCh37/hg19 1p36.32-36.23(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 1p36.33-36.31(chr1:849466-6002955)x1	copy number loss	not provided [RCV001005058]	Chr1:849466..6002955 [GRCh37] Chr1:1p36.33-36.31	pathogenic
GRCh37/hg19 1p36.33-36.23(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 1p36.33-36.23(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 1p36.33-36.13(chr1:849466-17525065)x1	copy number loss	not provided [RCV001832902]	Chr1:849466..17525065 [GRCh37] Chr1:1p36.33-36.13	pathogenic
NC_000001.10:g.(?_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 1p36.33-36.32(chr1:849466-4183006)	copy number loss	Chromosome 1p36 deletion syndrome [RCV002280716]	Chr1:849466..4183006 [GRCh37] Chr1:1p36.33-36.32	pathogenic
GRCh37/hg19 1p36.33-36.31(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(chr1:2974212-4408415)x3	copy number gain	not provided [RCV002474849]	Chr1:2974212..4408415 [GRCh37] Chr1:1p36.32	uncertain significance
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 1p36.33-36.22(chr1:849467-12448956)x1	copy number loss	not provided [RCV002473951]	Chr1:849467..12448956 [GRCh37] Chr1:1p36.33-36.22	pathogenic
NM_001288583.2(SMIM1):c.111G>T (p.Arg37Ser)	single nucleotide variant	not specified [RCV004105750]	Chr1:3775795 [GRCh38] Chr1:3692359 [GRCh37] Chr1:1p36.32	uncertain significance
NM_001288583.2(SMIM1):c.134G>A (p.Gly45Asp)	single nucleotide variant	not specified [RCV004121621]	Chr1:3775818 [GRCh38] Chr1:3692382 [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_001288583.2(SMIM1):c.125T>G (p.Leu42Arg)	single nucleotide variant	not specified [RCV004316053]	Chr1:3775809 [GRCh38] Chr1:3692373 [GRCh37] Chr1:1p36.32	uncertain significance
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 1p36.32(chr1:3575832-4224558)x3	copy number gain	not specified [RCV003986407]	Chr1:3575832..4224558 [GRCh37] Chr1:1p36.32	uncertain significance
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_001288583.2(SMIM1):c.57C>T (p.Asp19=)	single nucleotide variant	SMIM1-related condition [RCV003961648]	Chr1:3775430 [GRCh38] Chr1:3691994 [GRCh37] Chr1:1p36.32	likely benign
NM_001288583.2(SMIM1):c.100C>T (p.Arg34Cys)	single nucleotide variant	not specified [RCV004461939]	Chr1:3775473 [GRCh38] Chr1:3692037 [GRCh37] Chr1:1p36.32	likely benign
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
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
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 1p36.33-36.31(chr1:1471075-5831645)	copy number gain	not provided [RCV000767773]	Chr1:1471075..5831645 [GRCh37] Chr1:1p36.33-36.31	pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:849466-4829059)x1	copy number loss	not provided [RCV001005060]	Chr1:849466..4829059 [GRCh37] Chr1:1p36.33-36.32	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 1p36.33-36.23(chr1:834101-7930605)x1	copy number loss	Chromosome 1p36 deletion syndrome [RCV002279763]	Chr1:834101..7930605 [GRCh37] Chr1:1p36.33-36.23	pathogenic

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	1249
Count of miRNA genes:	692
Interacting mature miRNAs:	805
Transcripts:	ENST00000444870, ENST00000452264, ENST00000561886
Prediction methods:	Miranda, Rnahybrid, Targetscan
Result types:	miRGate_prediction

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

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

Markers in Region

AL033657

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	1	3,688,290 - 3,688,437	UniSTS	GRCh37
Build 36	1	3,678,150 - 3,678,297	RGD	NCBI36
Celera	1	2,942,328 - 2,942,475	RGD
Cytogenetic Map	1	p36.32	UniSTS
HuRef	1	2,983,479 - 2,983,626	UniSTS

SHGC-74073

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	1	3,692,393 - 3,692,475	UniSTS	GRCh37
Build 36	1	3,682,253 - 3,682,335	RGD	NCBI36
Celera	1	2,946,433 - 2,946,515	RGD
Cytogenetic Map	1	p36.32	UniSTS
HuRef	1	2,987,585 - 2,987,667	UniSTS
TNG Radiation Hybrid Map	1	1304.0	UniSTS
GeneMap99-GB4 RH Map	1	9.35	UniSTS

RH91403

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	1	3,692,012 - 3,692,457	UniSTS	GRCh37
Celera	1	2,946,052 - 2,946,497	UniSTS
Cytogenetic Map	1	p36.32	UniSTS
HuRef	1	2,987,204 - 2,987,649	UniSTS
GeneMap99-GB4 RH Map	1	15.94	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

792

606

111

500

243

628

370

Low

2341

2165

1097

504

1218

414

3699

1646

2866

335

808

1196

101

1141

2243

Below cutoff

143

622

523

589

534

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NG_033869	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001163724	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001288583	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001379690	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001379691	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047420003	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AI990490	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL365330	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC035379	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC042129	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC146945	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC146957	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068277	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	HF679135	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	HY003308	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	HY032469	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KC152643	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KC152644	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KC751412	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KY511041	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	MK783942	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	OL742182	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	OL742183	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	OL742184	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	OL742185	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	OL742186	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	OL742187	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	OL742188	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	OL742189	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	OL742190	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	OL742191	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	OL742192	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	OL742193	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	OL742194	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	OL742195	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	OL742196	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	OL742197	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	OL742198	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	OL742199	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	OL742200	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	OL742201	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	OL742202	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	OL742203	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	OL742204	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	OM296320	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	OM296321	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	OM296322	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	OM296323	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	OM296324	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	OM296325	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	OM296326	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	OM296327	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

RefSeq Acc Id:

ENST00000444870 ⟹ ENSP00000457386

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	3,772,787 - 3,775,982 (+)	Ensembl

RefSeq Acc Id:

ENST00000452264 ⟹ ENSP00000457674

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	3,772,825 - 3,775,388 (+)	Ensembl

RefSeq Acc Id:

ENST00000561886 ⟹ ENSP00000456559

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	3,772,771 - 3,775,670 (+)	Ensembl

RefSeq Acc Id:

ENST00000642557 ⟹ ENSP00000496314

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	3,772,749 - 3,775,956 (+)	Ensembl

RefSeq Acc Id:

NM_001163724 ⟹ NP_001157196

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	3,772,749 - 3,775,956 (+)	NCBI
GRCh37	1	3,689,352 - 3,692,546 (+)	NCBI
HuRef	1	2,984,514 - 2,987,738 (+)	NCBI
CHM1_1	1	3,676,373 - 3,679,562 (+)	NCBI
T2T-CHM13v2.0	1	3,284,345 - 3,287,549 (+)	NCBI

Sequence:

show sequence

AGGCCCGGCCCCTGCGGAGCCCAGAGACGCGGGGACACAGGTGAGGCGCGCGGGGTCCGGGCTG
CGGCTTCCCGGTGCGGCCGCAGTGGGCAGGCTCGAGGCGTCTGCCGCACCTCAGCCCACGACCT
GCCCCGCTGGGAGGTGCGGGCCGCTGGCCAGGCCCTGACCGCAACCTGGCCCAGAGGCCCCAGC
CCTCAGGCAAGGTTCTCCGGTGAAGCCACAGCCTGGCCACCTGTCTTGATCTCCCCACCGAGAA
GGCCCCGCCCCTCCCGCTGCAGCCCCACAGCATGCAGCCCCAGGAGAGCCACGTCCACTATAGT
AGGTGGGAGGACGGCAGCAGGGACGGAGTCAGCCTAGGGGCTGTGTCCAGCACAGAAGAGGCCT
CACGCTGCCGCAGGATCTCCCAGAGGCTGTGCACGGGCAAGCTGGGCATCGCCATGAAGGTGCT
GGGCGGCGTGGCCCTCTTCTGGATCATCTTCATCCTGGGCTACCTCACAGGCTACTATGTGCAC
AAGTGCAAATAAATGCTGCCCCGCATGCACGCGGGGGGCTGGCCGCA

hide sequence

RefSeq Acc Id:

NM_001288583 ⟹ NP_001275512

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	3,772,749 - 3,775,956 (+)	NCBI
HuRef	1	2,984,514 - 2,987,738 (+)	NCBI
CHM1_1	1	3,676,347 - 3,679,562 (+)	NCBI
T2T-CHM13v2.0	1	3,284,345 - 3,287,549 (+)	NCBI

Sequence:

show sequence

AGGCCCGGCCCCTGCGGAGCCCAGAGACGCGGGGACACAGGCTCGAGGCGTCTGCCGCACCTCA
GCCCACGACCTGCCCCGCTGGGAGGTGCGGGCCGCTGGCCAGGCCCTGACCGCAACCTGGCCCA
GAGGCCCCAGCCCTCAGGCAAGGTTCTCCGGTGAAGCCACAGCCTGGCCACCTGTCTTGATCTC
CCCACCGAGAAGGCCCCGCCCCTCCCGCTGCAGCCCCACAGCATGCAGCCCCAGGAGAGCCACG
TCCACTATAGTAGGTGGGAGGACGGCAGCAGGGACGGAGTCAGCCTAGGGGCTGTGTCCAGCAC
AGAAGAGGCCTCACGCTGCCGCAGGATCTCCCAGAGGCTGTGCACGGGCAAGCTGGGCATCGCC
ATGAAGGTGCTGGGCGGCGTGGCCCTCTTCTGGATCATCTTCATCCTGGGCTACCTCACAGGCT
ACTATGTGCACAAGTGCAAATAAATGCTGCCCCGCATGCACGCGGGGGGCTGGCCGCA

hide sequence

RefSeq Acc Id:

NM_001379690 ⟹ NP_001366619

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	3,772,749 - 3,775,956 (+)	NCBI
T2T-CHM13v2.0	1	3,284,345 - 3,287,549 (+)	NCBI

Sequence:

show sequence

AGGCCCGGCCCCTGCGGAGCCCAGAGACGCGGGGACACAGGTGAGGCGCGCGGGGTCCGGGCTG
CGGCTTCCCGGTGCGGCCGCAGTGGGCAGTGAAGCCACAGCCTGGCCACCTGTCTTGATCTCCC
CACCGAGAAGGCCCCGCCCCTCCCGCTGCAGCCCCACAGCATGCAGCCCCAGGAGAGCCACGTC
CACTATAGTAGGTGGGAGGACGGCAGCAGGGACGGAGTCAGCCTAGGGGCTGTGTCCAGCACAG
AAGAGGCCTCACGCTGCCGCAGGATCTCCCAGAGGCTGTGCACGGGCAAGCTGGGCATCGCCAT
GAAGGTGCTGGGCGGCGTGGCCCTCTTCTGGATCATCTTCATCCTGGGCTACCTCACAGGCTAC
TATGTGCACAAGTGCAAATAAATGCTGCCCCGCATGCACGCGGGGGGCTGGCCGCA

hide sequence

RefSeq Acc Id:

NM_001379691 ⟹ NP_001366620

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	3,772,749 - 3,775,956 (+)	NCBI
T2T-CHM13v2.0	1	3,284,345 - 3,287,549 (+)	NCBI

Sequence:

show sequence

AGGCCCGGCCCCTGCGGAGCCCAGAGACGCGGGGACACAGTGAAGCCACAGCCTGGCCACCTGT
CTTGATCTCCCCACCGAGAAGGCCCCGCCCCTCCCGCTGCAGCCCCACAGCATGCAGCCCCAGG
AGAGCCACGTCCACTATAGTAGGTGGGAGGACGGCAGCAGGGACGGAGTCAGCCTAGGGGCTGT
GTCCAGCACAGAAGAGGCCTCACGCTGCCGCAGGATCTCCCAGAGGCTGTGCACGGGCAAGCTG
GGCATCGCCATGAAGGTGCTGGGCGGCGTGGCCCTCTTCTGGATCATCTTCATCCTGGGCTACC
TCACAGGCTACTATGTGCACAAGTGCAAATAAATGCTGCCCCGCATGCACGCGGGGGGCTGGCC
GCA

hide sequence

RefSeq Acc Id:

XM_047420003 ⟹ XP_047275959

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	3,772,749 - 3,775,956 (+)	NCBI

Protein Sequences


Protein RefSeqs	NP_001157196	(Get FASTA)	NCBI Sequence Viewer
	NP_001275512	(Get FASTA)	NCBI Sequence Viewer
	NP_001366619	(Get FASTA)	NCBI Sequence Viewer
	NP_001366620	(Get FASTA)	NCBI Sequence Viewer
	XP_047275959	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AGI15326	(Get FASTA)	NCBI Sequence Viewer
	AGR34071	(Get FASTA)	NCBI Sequence Viewer
	ASS36119	(Get FASTA)	NCBI Sequence Viewer
	B2RUZ4	(Get FASTA)	NCBI Sequence Viewer
	CCU56505	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000456559.1
	ENSP00000457386
	ENSP00000457386.1
	ENSP00000496314
	ENSP00000496314.2
GenBank Protein	QFZ79370	(Get FASTA)	NCBI Sequence Viewer
	UZH24721	(Get FASTA)	NCBI Sequence Viewer
	UZH24722	(Get FASTA)	NCBI Sequence Viewer
	UZH24723	(Get FASTA)	NCBI Sequence Viewer
	UZH24724	(Get FASTA)	NCBI Sequence Viewer
	UZH24725	(Get FASTA)	NCBI Sequence Viewer
	UZH24726	(Get FASTA)	NCBI Sequence Viewer
	UZH24727	(Get FASTA)	NCBI Sequence Viewer
	UZH24728	(Get FASTA)	NCBI Sequence Viewer
	UZH24729	(Get FASTA)	NCBI Sequence Viewer
	UZH24730	(Get FASTA)	NCBI Sequence Viewer
	UZH24731	(Get FASTA)	NCBI Sequence Viewer
	UZH24732	(Get FASTA)	NCBI Sequence Viewer
	UZH24733	(Get FASTA)	NCBI Sequence Viewer
	UZH24734	(Get FASTA)	NCBI Sequence Viewer
	UZH24735	(Get FASTA)	NCBI Sequence Viewer
	UZH24736	(Get FASTA)	NCBI Sequence Viewer
	UZH24737	(Get FASTA)	NCBI Sequence Viewer
	UZH24738	(Get FASTA)	NCBI Sequence Viewer
	UZH24739	(Get FASTA)	NCBI Sequence Viewer
	UZH24740	(Get FASTA)	NCBI Sequence Viewer
	UZH24741	(Get FASTA)	NCBI Sequence Viewer
	UZH24742	(Get FASTA)	NCBI Sequence Viewer
	WAA99936	(Get FASTA)	NCBI Sequence Viewer
	WAA99937	(Get FASTA)	NCBI Sequence Viewer
	WAA99938	(Get FASTA)	NCBI Sequence Viewer
	WAA99939	(Get FASTA)	NCBI Sequence Viewer
	WAA99940	(Get FASTA)	NCBI Sequence Viewer
	WAA99941	(Get FASTA)	NCBI Sequence Viewer
	WAA99942	(Get FASTA)	NCBI Sequence Viewer
	WAA99943	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_001157196 ⟸ NM_001163724
- UniProtKB:	B2RUZ4 (UniProtKB/Swiss-Prot), M4WDD3 (UniProtKB/TrEMBL), A0A5Q0LQ04 (UniProtKB/TrEMBL)
- Sequence:	show sequence MQPQESHVHYSRWEDGSRDGVSLGAVSSTEEASRCRRISQRLCTGKLGIAMKVLGGVALFWIIF ILGYLTGYYVHKCK hide sequence

RefSeq Acc Id:	NP_001275512 ⟸ NM_001288583
- UniProtKB:	B2RUZ4 (UniProtKB/Swiss-Prot), M4WDD3 (UniProtKB/TrEMBL), A0A5Q0LQ04 (UniProtKB/TrEMBL)
- Sequence:	show sequence MQPQESHVHYSRWEDGSRDGVSLGAVSSTEEASRCRRISQRLCTGKLGIAMKVLGGVALFWIIF ILGYLTGYYVHKCK hide sequence

RefSeq Acc Id:	NP_001366619 ⟸ NM_001379690
- UniProtKB:	B2RUZ4 (UniProtKB/Swiss-Prot), M4WDD3 (UniProtKB/TrEMBL), A0A5Q0LQ04 (UniProtKB/TrEMBL)

RefSeq Acc Id:	NP_001366620 ⟸ NM_001379691
- UniProtKB:	B2RUZ4 (UniProtKB/Swiss-Prot), M4WDD3 (UniProtKB/TrEMBL), A0A5Q0LQ04 (UniProtKB/TrEMBL)

RefSeq Acc Id:

ENSP00000457674 ⟸ ENST00000452264

RefSeq Acc Id:

ENSP00000456559 ⟸ ENST00000561886

RefSeq Acc Id:

ENSP00000457386 ⟸ ENST00000444870

RefSeq Acc Id:

ENSP00000496314 ⟸ ENST00000642557

RefSeq Acc Id:	XP_047275959 ⟸ XM_047420003
- Peptide Label:	isoform X1
- UniProtKB:	B2RUZ4 (UniProtKB/Swiss-Prot), M4WDD3 (UniProtKB/TrEMBL)

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-B2RUZ4-F1-model_v2	AlphaFold	B2RUZ4	1-78	view protein structure

Promoters

RGD ID:

6853872

Promoter ID:

EPDNEW_H100

Type:

initiation region

Name:

SMIM1_1

Description:

small integral membrane protein 1

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H88

Experiment Methods:

Single-end sequencing.; Paired-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	3,772,655 - 3,772,715	EPDNEW

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:44204	AgrOrtholog
COSMIC	SMIM1	COSMIC
Ensembl Genes	ENSG00000235169	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript	ENST00000444870	ENTREZGENE
	ENST00000444870.7	UniProtKB/Swiss-Prot
	ENST00000561886.2	UniProtKB/TrEMBL
	ENST00000642557	ENTREZGENE, UniProtKB/TrEMBL
	ENST00000642557.4	UniProtKB/Swiss-Prot
GTEx	ENSG00000235169	GTEx
HGNC ID	HGNC:44204	ENTREZGENE
Human Proteome Map	SMIM1	Human Proteome Map
InterPro	SMIM1	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	hsa:388588	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene	SMIM1	ENTREZGENE
OMIM	615242	OMIM
PANTHER	PTHR38503	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	SMALL INTEGRAL MEMBRANE PROTEIN 1	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam	DUF4731	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA166049116	PharmGKB
UniProt	A0A223AMS5_HUMAN	UniProtKB/TrEMBL
	A0A2R8Y7R4_HUMAN	UniProtKB/TrEMBL
	A0A5Q0LQ04	ENTREZGENE, UniProtKB/TrEMBL
	B2RUZ4	ENTREZGENE
	H3BS66_HUMAN	UniProtKB/TrEMBL
	M4WDD3	ENTREZGENE, UniProtKB/TrEMBL
	N1IRL5_HUMAN	UniProtKB/TrEMBL
	SMIM1_HUMAN	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2014-01-07	SMIM1	small integral membrane protein 1 (Vel blood group)		small integral membrane protein 1	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