SERPINB11 (serpin family B member 11)

Gene: SERPINB11 (serpin family B member 11) Homo sapiens

Analyze

Symbol:

SERPINB11

Name:

serpin family B member 11

RGD ID:

1315147

HGNC Page

HGNC:14221

Description:

Predicted to enable serine-type endopeptidase inhibitor activity. Predicted to be located in cytoplasm. Predicted to be active in extracellular space.

Type:

protein-coding

RefSeq Status:

VALIDATED

Previously known as:

EPIPIN; MGC163242; MGC163244; serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 11; serpin B11; serpin family B member 11 (gene/pseudogene); serpin peptidase inhibitor, clade B (ovalbumin), member 11; serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene); SERPIN11

RGD Orthologs

Alliance Genes

More Info

more info ...

More Info

Species	Gene symbol and name	Data Source	Assertion derived from	less info ...
Orthologs ¹				less info ...
Mus musculus (house mouse):	Serpinb11 (serine (or cysteine) peptidase inhibitor, clade B (ovalbumin), member 11)	HGNC	Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OMA, Panther, PhylomeDB
Rattus norvegicus (Norway rat):	Serpinb11 (serpin family B member 11)	HGNC	Ensembl, HomoloGene, Inparanoid, NCBI, OMA, Panther, PhylomeDB
Chinchilla lanigera (long-tailed chinchilla):	Serpinb11 (serpin family B member 11)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	SERPINB11 (serpin family B member 11)	NCBI	Ortholog
Canis lupus familiaris (dog):	SERPINB11 (serpin family B member 11)	HGNC	Ensembl, HomoloGene, Inparanoid, NCBI, OMA, Panther, PhylomeDB
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Serpinb11 (serpin family B member 11)	NCBI	Ortholog
Sus scrofa (pig):	SERPINB11 (serpin family B member 11)	HGNC	Ensembl, NCBI, OrthoDB, Panther
Chlorocebus sabaeus (green monkey):	SERPINB11 (serpin family B member 11)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Serpinb11 (serpin family B member 11)	NCBI	Ortholog
Other homologs ²
Rattus norvegicus (Norway rat):	Pes1 (pescadillo ribosomal biogenesis factor 1)	HGNC	OMA
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Serpinb11 (serpin family B member 11)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Mus musculus (house mouse):	Serpinb11 (serine (or cysteine) peptidase inhibitor, clade B (ovalbumin), member 11)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Caenorhabditis elegans (roundworm):	srp-1	Alliance	DIOPT (InParanoid\|OMA\|OrthoInspector\|SonicParanoid)
Caenorhabditis elegans (roundworm):	srp-6	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoInspector\|SonicParanoid)
Caenorhabditis elegans (roundworm):	srp-7	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoInspector\|SonicParanoid)
Caenorhabditis elegans (roundworm):	srp-8	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoInspector\|SonicParanoid)
Drosophila melanogaster (fruit fly):	Spn38F	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|OMA\|OrthoInspector\|SonicParanoid)
Drosophila melanogaster (fruit fly):	Spn55B	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|SonicParanoid)
Xenopus tropicalis (tropical clawed frog):	serpinb11	Alliance	DIOPT (Ensembl Compara\|PANTHER)

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

NCBI Annotation Information:

Note: Genetic polymorphisms result in both protein coding and non-coding alleles of this gene.

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	18	63,702,304 - 63,723,893 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	18	63,647,579 - 63,726,432 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	18	61,369,538 - 61,391,127 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	18	59,521,174 - 59,542,103 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	18	59,528,407 - 59,541,613	NCBI
Celera	18	58,090,689 - 58,111,621 (+)	NCBI		Celera
Cytogenetic Map	18	q21.33	NCBI
HuRef	18	58,071,139 - 58,092,525 (+)	NCBI		HuRef
CHM1_1	18	61,366,368 - 61,387,300 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	18	63,907,377 - 63,928,969 (+)	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 18q deletion syndrome (IAGP)

genetic disease (IAGP)

multiple congenital anomalies-hypotonia-seizures syndrome 1 (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

17alpha-ethynylestradiol (ISO)

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

4,4'-sulfonyldiphenol (ISO)

alachlor (ISO)

benzo[a]pyrene (EXP)

Benzo[k]fluoranthene (ISO)

bisphenol A (EXP,ISO)

bisphenol F (ISO)

butanal (EXP)

cadmium dichloride (ISO)

CGP 52608 (EXP)

epoxiconazole (ISO)

fenvalerate (ISO)

fulvestrant (EXP)

genistein (ISO)

N,N-diethyl-m-toluamide (ISO)

oxaliplatin (ISO)

permethrin (ISO)

potassium dichromate (ISO)

sodium arsenite (ISO)

testosterone (ISO)

titanium dioxide (ISO)

topotecan (ISO)

Gene Ontology Annotations Click to see Annotation Detail View

Cellular Component

cytoplasm (IEA)

extracellular space (IBA,IEA)

Molecular Function

serine-type endopeptidase inhibitor activity (IBA,IEA)

References

References - curated

#	Reference Title	Reference Citation
1.	GOAs Human GO annotations	GOA_HUMAN data from the GO Consortium
2.	ClinVar Automated Import and Annotation Pipeline	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions

Additional References at PubMed

PMID:12477932	PMID:15489334	PMID:17207965	PMID:17562709	PMID:17567994	PMID:21873635	PMID:22289513	PMID:22393410	PMID:24172014	PMID:26186194	PMID:28514442	PMID:33961781

Genomics

Comparative Map Data

SERPINB11
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	18	63,702,304 - 63,723,893 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	18	63,647,579 - 63,726,432 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	18	61,369,538 - 61,391,127 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	18	59,521,174 - 59,542,103 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	18	59,528,407 - 59,541,613	NCBI
Celera	18	58,090,689 - 58,111,621 (+)	NCBI		Celera
Cytogenetic Map	18	q21.33	NCBI
HuRef	18	58,071,139 - 58,092,525 (+)	NCBI		HuRef
CHM1_1	18	61,366,368 - 61,387,300 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	18	63,907,377 - 63,928,969 (+)	NCBI		T2T-CHM13v2.0

Serpinb11
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	1	107,290,044 - 107,308,205 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	1	107,288,928 - 107,308,205 (+)	Ensembl		GRCm39 Ensembl
GRCm38	1	107,362,314 - 107,380,475 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	1	107,361,198 - 107,380,475 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	1	109,258,891 - 109,277,052 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	1	109,189,861 - 109,208,022 (+)	NCBI		MGSCv36	mm8
Celera	1	110,200,129 - 110,218,288 (+)	NCBI		Celera
Cytogenetic Map	1	E2.1	NCBI
cM Map	1	50.34	NCBI

Serpinb11
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	13	23,819,416 - 23,859,240 (+)	NCBI		GRCr8
mRatBN7.2	13	23,304,775 - 23,344,604 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	13	23,304,456 - 23,344,604 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	13	23,689,099 - 23,707,532 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	13	24,973,563 - 24,991,996 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	13	23,659,283 - 23,677,716 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	13	27,217,385 - 27,257,181 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	13	27,238,767 - 27,257,181 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	13	32,366,612 - 32,406,429 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	13	13,391,087 - 13,409,501 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	13	13,391,878 - 13,409,012 (+)	NCBI
Celera	13	23,171,500 - 23,189,504 (+)	NCBI		Celera
Cytogenetic Map	13	p11	NCBI

Serpinb11
(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_004955402	47,564,492 - 47,585,054 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955402	47,564,631 - 47,585,486 (+)	NCBI	ChiLan1.0	ChiLan1.0

SERPINB11
(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	17	81,220,828 - 81,234,481 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	18	66,905,553 - 66,927,092 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	18	57,061,477 - 57,083,031 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	18	60,372,603 - 60,394,132 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	18	60,373,142 - 60,394,132 (+)	Ensembl	panpan1.1		panPan2

SERPINB11
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	1	13,395,127 - 13,486,974 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	1	13,410,079 - 13,487,008 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	1	14,355,859 - 14,448,315 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	1	13,250,249 - 13,342,424 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	1	13,265,636 - 13,323,647 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	1	13,288,667 - 13,380,907 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	1	13,218,246 - 13,310,174 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	1	13,467,187 - 13,559,020 (-)	NCBI		UU_Cfam_GSD_1.0

Serpinb11
(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_024404944	26,692,531 - 26,711,335 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936497	1,930,201 - 1,950,494 (-)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936497	1,931,500 - 1,950,256 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

SERPINB11
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	1	158,015,718 - 158,030,763 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	1	158,015,714 - 158,030,833 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	1	175,357,960 - 175,373,471 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

SERPINB11
(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	18	16,075,310 - 16,096,437 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	18	16,075,796 - 16,088,987 (-)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666060	9,594,695 - 9,615,769 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Serpinb11
(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_004624792	9,679,211 - 9,712,970 (+)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624792	9,679,310 - 9,712,474 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in SERPINB11
26 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 18q21.1-23(chr18:50068129-80252149)x3	copy number gain	See cases [RCV000050989]	Chr18:50068129..80252149 [GRCh38] Chr18:47594499..78010032 [GRCh37] Chr18:45848497..76111023 [NCBI36] Chr18:18q21.1-23	pathogenic
GRCh38/hg38 18q21.31-23(chr18:56618038-80252149)x1	copy number loss	See cases [RCV000051032]	Chr18:56618038..80252149 [GRCh38] Chr18:54285269..78010032 [GRCh37] Chr18:52436267..76111023 [NCBI36] Chr18:18q21.31-23	pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	copy number gain	See cases [RCV000051048]	Chr18:148963..80252149 [GRCh38] Chr18:148963..78010032 [GRCh37] Chr18:138963..76111023 [NCBI36] Chr18:18p11.32-q23	pathogenic
GRCh38/hg38 18q11.1-23(chr18:20960320-80234429)x3	copy number gain	See cases [RCV000052543]	Chr18:20960320..80234429 [GRCh38] Chr18:18540281..77992312 [GRCh37] Chr18:16794279..76093303 [NCBI36] Chr18:18q11.1-23	pathogenic
GRCh38/hg38 18q11.1-23(chr18:20989762-80209986)x3	copy number gain	See cases [RCV000052549]	Chr18:20989762..80209986 [GRCh38] Chr18:18569723..77967869 [GRCh37] Chr18:16823721..76068860 [NCBI36] Chr18:18q11.1-23	pathogenic
GRCh38/hg38 18p11.32-q23(chr18:53345-80209986)x3	copy number gain	See cases [RCV000052501]	Chr18:53345..80209986 [GRCh38] Chr18:53345..77967869 [GRCh37] Chr18:43345..76068860 [NCBI36] Chr18:18p11.32-q23	pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148763-80252290)x3	copy number gain	See cases [RCV000052507]	Chr18:148763..80252290 [GRCh38] Chr18:148763..78010173 [GRCh37] Chr18:138763..76111164 [NCBI36] Chr18:18p11.32-q23	pathogenic
GRCh38/hg38 18q12.1-22.1(chr18:29249202-65448117)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052563]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052563]\|See cases [RCV000052563]	Chr18:29249202..65448117 [GRCh38] Chr18:26829167..63115353 [GRCh37] Chr18:25083165..61266333 [NCBI36] Chr18:18q12.1-22.1	pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148963-80244381)x3	copy number gain	See cases [RCV000052514]	Chr18:148963..80244381 [GRCh38] Chr18:148963..78002264 [GRCh37] Chr18:138963..76103255 [NCBI36] Chr18:18p11.32-q23	pathogenic
GRCh38/hg38 18q21.33-23(chr18:63195579-80234429)x3	copy number gain	See cases [RCV000052572]	Chr18:63195579..80234429 [GRCh38] Chr18:60862812..77992312 [GRCh37] Chr18:59013792..76093303 [NCBI36] Chr18:18q21.33-23	pathogenic
GRCh38/hg38 18q21.2-23(chr18:53637007-80252149)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053869]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053869]\|See cases [RCV000053869]	Chr18:53637007..80252149 [GRCh38] Chr18:51163377..78010032 [GRCh37] Chr18:49417375..76111023 [NCBI36] Chr18:18q21.2-23	pathogenic
GRCh38/hg38 18q21.31-23(chr18:56353040-80209986)x1	copy number loss	See cases [RCV000053873]	Chr18:56353040..80209986 [GRCh38] Chr18:54020271..77967869 [GRCh37] Chr18:52171269..76068860 [NCBI36] Chr18:18q21.31-23	pathogenic
GRCh38/hg38 18q21.33-23(chr18:62999696-80209986)x1	copy number loss	See cases [RCV000053875]	Chr18:62999696..80209986 [GRCh38] Chr18:60666929..77967869 [GRCh37] Chr18:58817909..76068860 [NCBI36] Chr18:18q21.33-23	pathogenic
GRCh38/hg38 18q21.2-23(chr18:51605752-80252149)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053834]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053834]\|See cases [RCV000053834]	Chr18:51605752..80252149 [GRCh38] Chr18:49132122..78010032 [GRCh37] Chr18:47386120..76111023 [NCBI36] Chr18:18q21.2-23	pathogenic
GRCh38/hg38 18q21.2-22.1(chr18:52156899-65408762)x1	copy number loss	See cases [RCV000053836]	Chr18:52156899..65408762 [GRCh38] Chr18:49683269..63075998 [GRCh37] Chr18:47937267..61226978 [NCBI36] Chr18:18q21.2-22.1	pathogenic
NM_080475.3(SERPINB11):c.129C>T (p.Leu43=)	single nucleotide variant	Malignant melanoma [RCV000071873]	Chr18:63710322 [GRCh38] Chr18:61377556 [GRCh37] Chr18:59528536 [NCBI36] Chr18:18q21.33	not provided
NM_080475.3(SERPINB11):c.735G>A (p.Met245Ile)	single nucleotide variant	Malignant melanoma [RCV000071874]	Chr18:63720947 [GRCh38] Chr18:61388181 [GRCh37] Chr18:59539161 [NCBI36] Chr18:18q21.33	not provided
GRCh38/hg38 18q21.32-23(chr18:59567681-80252149)x1	copy number loss	See cases [RCV000133689]	Chr18:59567681..80252149 [GRCh38] Chr18:57234913..78010032 [GRCh37] Chr18:55385893..76111023 [NCBI36] Chr18:18q21.32-23	pathogenic
GRCh38/hg38 18p11.32-q23(chr18:149089-80234391)x3	copy number gain	See cases [RCV000134110]	Chr18:149089..80234391 [GRCh38] Chr18:149089..77992274 [GRCh37] Chr18:139089..76093265 [NCBI36] Chr18:18p11.32-q23	pathogenic
GRCh38/hg38 18q21.33-23(chr18:63306200-80252149)x1	copy number loss	See cases [RCV000135838]	Chr18:63306200..80252149 [GRCh38] Chr18:60973433..78010032 [GRCh37] Chr18:59124413..76111023 [NCBI36] Chr18:18q21.33-23	pathogenic
GRCh38/hg38 18q21.33-23(chr18:61576009-80252149)x1	copy number loss	See cases [RCV000135616]	Chr18:61576009..80252149 [GRCh38] Chr18:59243242..78010032 [GRCh37] Chr18:57394222..76111023 [NCBI36] Chr18:18q21.33-23	pathogenic
GRCh38/hg38 18q21.2-23(chr18:51190429-80252149)x1	copy number loss	See cases [RCV000135413]	Chr18:51190429..80252149 [GRCh38] Chr18:48716799..78010032 [GRCh37] Chr18:46970797..76111023 [NCBI36] Chr18:18q21.2-23	pathogenic
GRCh38/hg38 18q21.33-23(chr18:61827111-80252149)x1	copy number loss	See cases [RCV000135567]	Chr18:61827111..80252149 [GRCh38] Chr18:59494344..78010032 [GRCh37] Chr18:57645324..76111023 [NCBI36] Chr18:18q21.33-23	pathogenic\|uncertain significance
GRCh38/hg38 18q12.2-22.1(chr18:38794728-65632804)x3	copy number gain	See cases [RCV000136910]	Chr18:38794728..65632804 [GRCh38] Chr18:36374692..63300040 [GRCh37] Chr18:34628690..61451020 [NCBI36] Chr18:18q12.2-22.1	pathogenic
GRCh38/hg38 18q12.1-23(chr18:32123105-80252149)x3	copy number gain	See cases [RCV000136890]	Chr18:32123105..80252149 [GRCh38] Chr18:29703068..78010032 [GRCh37] Chr18:27957066..76111023 [NCBI36] Chr18:18q12.1-23	pathogenic
GRCh38/hg38 18q21.2-23(chr18:53865057-80252149)x1	copy number loss	See cases [RCV000136674]	Chr18:53865057..80252149 [GRCh38] Chr18:51391427..78010032 [GRCh37] Chr18:49645425..76111023 [NCBI36] Chr18:18q21.2-23	pathogenic
GRCh38/hg38 18q21.1-23(chr18:49199411-80254946)x3	copy number gain	See cases [RCV000137342]	Chr18:49199411..80254946 [GRCh38] Chr18:46725781..78012829 [GRCh37] Chr18:44979779..76113817 [NCBI36] Chr18:18q21.1-23	pathogenic
GRCh38/hg38 18q21.2-23(chr18:55179364-80254946)x1	copy number loss	See cases [RCV000137375]	Chr18:55179364..80254946 [GRCh38] Chr18:52846595..78012829 [GRCh37] Chr18:50997593..76113817 [NCBI36] Chr18:18q21.2-23	pathogenic
GRCh38/hg38 18q12.3-23(chr18:42651392-80254946)x3	copy number gain	See cases [RCV000138034]	Chr18:42651392..80254946 [GRCh38] Chr18:40231357..78012829 [GRCh37] Chr18:38485355..76113817 [NCBI36] Chr18:18q12.3-23	pathogenic
GRCh38/hg38 18p11.32-q23(chr18:118760-80254946)x3	copy number gain	See cases [RCV000138656]	Chr18:118760..80254946 [GRCh38] Chr18:118760..78012829 [GRCh37] Chr18:108760..76113817 [NCBI36] Chr18:18p11.32-q23	pathogenic\|conflicting data from submitters
GRCh38/hg38 18p11.32-q23(chr18:149089-80254936)x3	copy number gain	See cases [RCV000139397]	Chr18:149089..80254936 [GRCh38] Chr18:149089..78012819 [GRCh37] Chr18:139089..76113807 [NCBI36] Chr18:18p11.32-q23	pathogenic
GRCh38/hg38 18q21.2-23(chr18:52421052-80254946)x1	copy number loss	See cases [RCV000139134]	Chr18:52421052..80254946 [GRCh38] Chr18:49947422..78012829 [GRCh37] Chr18:48201420..76113817 [NCBI36] Chr18:18q21.2-23	pathogenic
GRCh38/hg38 18q21.33-22.1(chr18:63144445-64588458)x3	copy number gain	See cases [RCV000139938]	Chr18:63144445..64588458 [GRCh38] Chr18:60811678..62255693 [GRCh37] Chr18:58962658..60406673 [NCBI36] Chr18:18q21.33-22.1	uncertain significance
GRCh38/hg38 18q21.2-23(chr18:53959828-80254936)x3	copy number gain	See cases [RCV000139496]	Chr18:53959828..80254936 [GRCh38] Chr18:51486198..78012819 [GRCh37] Chr18:49740196..76113807 [NCBI36] Chr18:18q21.2-23	pathogenic
GRCh38/hg38 18q21.32-23(chr18:59996934-80254946)x1	copy number loss	See cases [RCV000139669]	Chr18:59996934..80254946 [GRCh38] Chr18:57664166..78012829 [GRCh37] Chr18:55815146..76113817 [NCBI36] Chr18:18q21.32-23	pathogenic
GRCh38/hg38 18q21.33-23(chr18:61613338-80252090)x1	copy number loss	See cases [RCV000141429]	Chr18:61613338..80252090 [GRCh38] Chr18:59280571..78009973 [GRCh37] Chr18:57431551..76110964 [NCBI36] Chr18:18q21.33-23	pathogenic
GRCh38/hg38 18q21.2-23(chr18:51167159-80256240)x1	copy number loss	See cases [RCV000140925]	Chr18:51167159..80256240 [GRCh38] Chr18:48693529..78014123 [GRCh37] Chr18:46947527..76115097 [NCBI36] Chr18:18q21.2-23	pathogenic
GRCh38/hg38 18p11.32-q23(chr18:136227-80256240)x3	copy number gain	See cases [RCV000142244]	Chr18:136227..80256240 [GRCh38] Chr18:136227..78014123 [GRCh37] Chr18:126227..76115097 [NCBI36] Chr18:18p11.32-q23	pathogenic
GRCh38/hg38 18q12.3-23(chr18:40367455-80256240)x3	copy number gain	See cases [RCV000142227]	Chr18:40367455..80256240 [GRCh38] Chr18:37947419..78014123 [GRCh37] Chr18:36201417..76115097 [NCBI36] Chr18:18q12.3-23	pathogenic
GRCh38/hg38 18q11.1-22.3(chr18:20962119-74691446)x3	copy number gain	See cases [RCV000143057]	Chr18:20962119..74691446 [GRCh38] Chr18:18542080..72403402 [GRCh37] Chr18:16796078..70532390 [NCBI36] Chr18:18q11.1-22.3	pathogenic
GRCh38/hg38 18q21.32-22.3(chr18:59909593-72609801)x3	copy number gain	See cases [RCV000143195]	Chr18:59909593..72609801 [GRCh38] Chr18:57576825..70277036 [GRCh37] Chr18:55727805..68428016 [NCBI36] Chr18:18q21.32-22.3	likely pathogenic
GRCh38/hg38 18p11.32-q23(chr18:136226-80256240)x3	copy number gain	See cases [RCV000143218]	Chr18:136226..80256240 [GRCh38] Chr18:136226..78014123 [GRCh37] Chr18:126226..76115097 [NCBI36] Chr18:18p11.32-q23	pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	copy number gain	See cases [RCV000148072]	Chr18:148963..80252149 [GRCh38] Chr18:148963..78010032 [GRCh37] Chr18:138963..76111023 [NCBI36] Chr18:18p11.32-q23	pathogenic
GRCh37/hg19 18p11.32-q23(chr18:163323-78005236)x3	copy number gain	See cases [RCV000240130]	Chr18:163323..78005236 [GRCh37] Chr18:18p11.32-q23	pathogenic
Single allele	complex	Breast ductal adenocarcinoma [RCV000207027]	Chr18:61387312..63489378 [GRCh37] Chr18:18q21.33-22.1	uncertain significance
GRCh37/hg19 18q21.32-22.2(chr18:58014591-68158862)x1	copy number loss	See cases [RCV000240432]	Chr18:58014591..68158862 [GRCh37] Chr18:18q21.32-22.2	pathogenic
GRCh37/hg19 18q11.1-23(chr18:18548019-77954165)x3	copy number gain	See cases [RCV000240476]	Chr18:18548019..77954165 [GRCh37] Chr18:18q11.1-23	pathogenic
GRCh37/hg19 18q21.32-23(chr18:58525322-78005236)x3	copy number gain	See cases [RCV000240296]	Chr18:58525322..78005236 [GRCh37] Chr18:18q21.32-23	pathogenic
GRCh37/hg19 18q21.33-23(chr18:59461447-78010032)x1	copy number loss	not provided [RCV000416006]	Chr18:59461447..78010032 [GRCh37] Chr18:18q21.33-23	likely pathogenic
GRCh37/hg19 18q21.31-22.3(chr18:55793243-68705548)x1	copy number loss	See cases [RCV000449209]	Chr18:55793243..68705548 [GRCh37] Chr18:18q21.31-22.3	pathogenic
GRCh37/hg19 18q21.33-23(chr18:59332806-78014123)x1	copy number loss	See cases [RCV000449163]	Chr18:59332806..78014123 [GRCh37] Chr18:18q21.33-23	pathogenic
GRCh37/hg19 18q21.2-22.1(chr18:50739715-63705988)x1	copy number loss	See cases [RCV000446087]	Chr18:50739715..63705988 [GRCh37] Chr18:18q21.2-22.1	pathogenic
GRCh37/hg19 18q21.33-23(chr18:60641553-78014123)x1	copy number loss	See cases [RCV000447127]	Chr18:60641553..78014123 [GRCh37] Chr18:18q21.33-23	pathogenic
GRCh37/hg19 18p11.32-q23(chr18:136226-78014123)x3	copy number gain	See cases [RCV000446047]	Chr18:136226..78014123 [GRCh37] Chr18:18p11.32-q23	pathogenic
GRCh37/hg19 18q21.33-23(chr18:60796196-78014123)x1	copy number loss	See cases [RCV000446171]	Chr18:60796196..78014123 [GRCh37] Chr18:18q21.33-23	pathogenic
GRCh37/hg19 18p11.32-q23(chr18:163323-78005185)x3	copy number gain	See cases [RCV000445851]	Chr18:163323..78005185 [GRCh37] Chr18:18p11.32-q23	pathogenic
GRCh37/hg19 18q21.33-22.1(chr18:61249958-62516230)x3	copy number gain	See cases [RCV000445966]	Chr18:61249958..62516230 [GRCh37] Chr18:18q21.33-22.1	likely benign
GRCh37/hg19 18q21.2-23(chr18:50224898-78014123)x1	copy number loss	See cases [RCV000510720]	Chr18:50224898..78014123 [GRCh37] Chr18:18q21.2-23	likely pathogenic
GRCh37/hg19 18q21.2-23(chr18:53100584-78014123)x1	copy number loss	See cases [RCV000445943]	Chr18:53100584..78014123 [GRCh37] Chr18:18q21.2-23	pathogenic
GRCh37/hg19 18q21.1-23(chr18:47656799-78014123)x1	copy number loss	See cases [RCV000447931]	Chr18:47656799..78014123 [GRCh37] Chr18:18q21.1-23	pathogenic
GRCh37/hg19 18q21.2-23(chr18:52837852-77989426)x1	copy number loss	See cases [RCV000448656]	Chr18:52837852..77989426 [GRCh37] Chr18:18q21.2-23	pathogenic
GRCh37/hg19 18q21.31-23(chr18:54462182-78014123)x1	copy number loss	See cases [RCV000512059]	Chr18:54462182..78014123 [GRCh37] Chr18:18q21.31-23	pathogenic
GRCh37/hg19 18q12.2-23(chr18:33417216-78014123)x3	copy number gain	See cases [RCV000512081]	Chr18:33417216..78014123 [GRCh37] Chr18:18q12.2-23	pathogenic
GRCh37/hg19 18q21.1-23(chr18:47454437-78014123)x3	copy number gain	See cases [RCV000510655]	Chr18:47454437..78014123 [GRCh37] Chr18:18q21.1-23	pathogenic
GRCh37/hg19 18q21.33-23(chr18:59809990-78014123)x1	copy number loss	See cases [RCV000510685]	Chr18:59809990..78014123 [GRCh37] Chr18:18q21.33-23	pathogenic
GRCh37/hg19 18q21.1-23(chr18:43776770-78014123)x3	copy number gain	See cases [RCV000511394]	Chr18:43776770..78014123 [GRCh37] Chr18:18q21.1-23	pathogenic
GRCh37/hg19 18q11.1-22.1(chr18:18521285-64495798)x3	copy number gain	See cases [RCV000511734]	Chr18:18521285..64495798 [GRCh37] Chr18:18q11.1-22.1	pathogenic
GRCh37/hg19 18p11.21-q23(chr18:14869204-78014123)x3	copy number gain	See cases [RCV000512030]	Chr18:14869204..78014123 [GRCh37] Chr18:18p11.21-q23	pathogenic
GRCh37/hg19 18q21.1-23(chr18:46177798-78014123)x1	copy number loss	See cases [RCV000511759]	Chr18:46177798..78014123 [GRCh37] Chr18:18q21.1-23	pathogenic
GRCh37/hg19 18q12.3-23(chr18:42930373-78014123)x3	copy number gain	See cases [RCV000511203]	Chr18:42930373..78014123 [GRCh37] Chr18:18q12.3-23	pathogenic
GRCh37/hg19 18p11.32-q23(chr18:136227-78014123)	copy number gain	See cases [RCV000511189]	Chr18:136227..78014123 [GRCh37] Chr18:18p11.32-q23	pathogenic
GRCh37/hg19 18q21.33-23(chr18:59876469-78014123)x1	copy number loss	See cases [RCV000511105]	Chr18:59876469..78014123 [GRCh37] Chr18:18q21.33-23	pathogenic
Single allele	deletion	Deletion of long arm of chromosome 18 [RCV000768454]	Chr18:58024137..77996821 [GRCh37] Chr18:18q21.32-23	pathogenic
NM_001370475.1(SERPINB11):c.62G>A (p.Ser21Asn)	single nucleotide variant	Inborn genetic diseases [RCV003290659]	Chr18:63710255 [GRCh38] Chr18:61377489 [GRCh37] Chr18:18q21.33	uncertain significance
NM_001370475.1(SERPINB11):c.805C>A (p.His269Asn)	single nucleotide variant	Inborn genetic diseases [RCV003241253]	Chr18:63723025 [GRCh38] Chr18:61390259 [GRCh37] Chr18:18q21.33	uncertain significance
GRCh37/hg19 18q12.1-23(chr18:31879854-78014123)x3	copy number gain	See cases [RCV000512425]	Chr18:31879854..78014123 [GRCh37] Chr18:18q12.1-23	pathogenic
GRCh37/hg19 18q21.32-23(chr18:58768873-78014123)x1	copy number loss	See cases [RCV000512579]	Chr18:58768873..78014123 [GRCh37] Chr18:18q21.32-23	pathogenic
GRCh37/hg19 18q21.33-23(chr18:60416709-78014123)x1	copy number loss	not provided [RCV000684055]	Chr18:60416709..78014123 [GRCh37] Chr18:18q21.33-23	pathogenic
GRCh37/hg19 18q21.31-22.3(chr18:55083032-72743857)x1	copy number loss	not provided [RCV000684056]	Chr18:55083032..72743857 [GRCh37] Chr18:18q21.31-22.3	pathogenic
GRCh37/hg19 18q21.1-23(chr18:46942427-78014123)x1	copy number loss	not provided [RCV000684060]	Chr18:46942427..78014123 [GRCh37] Chr18:18q21.1-23	pathogenic
GRCh37/hg19 18q21.32-23(chr18:56905884-78014123)x1	copy number loss	not provided [RCV000684058]	Chr18:56905884..78014123 [GRCh37] Chr18:18q21.32-23	pathogenic
GRCh37/hg19 18q21.31-23(chr18:55298900-78014123)x1	copy number loss	not provided [RCV000684059]	Chr18:55298900..78014123 [GRCh37] Chr18:18q21.31-23	pathogenic
GRCh37/hg19 18q21.2-23(chr18:52802515-78015180)x1	copy number loss	not provided [RCV000739824]	Chr18:52802515..78015180 [GRCh37] Chr18:18q21.2-23	pathogenic
GRCh37/hg19 18p11.32-q23(chr18:12842-78015180)x3	copy number gain	not provided [RCV000752245]	Chr18:12842..78015180 [GRCh37] Chr18:18p11.32-q23	pathogenic
GRCh37/hg19 18p11.32-q23(chr18:13034-78015180)x3	copy number gain	not provided [RCV000752246]	Chr18:13034..78015180 [GRCh37] Chr18:18p11.32-q23	pathogenic
GRCh37/hg19 18q21.32-22.1(chr18:57244903-63722436)x1	copy number loss	not provided [RCV000752355]	Chr18:57244903..63722436 [GRCh37] Chr18:18q21.32-22.1	benign
GRCh37/hg19 18q21.32-23(chr18:57244903-77325446)x1	copy number loss	not provided [RCV000752356]	Chr18:57244903..77325446 [GRCh37] Chr18:18q21.32-23	pathogenic
GRCh37/hg19 18q21.33-23(chr18:59585959-78015180)x1	copy number loss	not provided [RCV000752366]	Chr18:59585959..78015180 [GRCh37] Chr18:18q21.33-23	pathogenic
Single allele	deletion	Deletion of long arm of chromosome 18 [RCV002280357]	Chr18:61490305..80247612 [GRCh38] Chr18:18q21.33-23	pathogenic
GRCh37/hg19 18q21.33-22.1(chr18:61388176-62052163)x1	copy number loss	not provided [RCV000847942]	Chr18:61388176..62052163 [GRCh37] Chr18:18q21.33-22.1	uncertain significance
GRCh37/hg19 18q21.1-21.33(chr18:45621155-61416536)x3	copy number gain	not provided [RCV000847118]	Chr18:45621155..61416536 [GRCh37] Chr18:18q21.1-21.33	pathogenic
GRCh37/hg19 18q21.32-23(chr18:56750525-78014123)x1	copy number loss	not provided [RCV001007018]	Chr18:56750525..78014123 [GRCh37] Chr18:18q21.32-23	pathogenic
GRCh37/hg19 18q21.2-23(chr18:49460596-78014123)x1	copy number loss	not provided [RCV001007016]	Chr18:49460596..78014123 [GRCh37] Chr18:18q21.2-23	pathogenic
GRCh37/hg19 18q21.31-23(chr18:55458425-78014123)x1	copy number loss	not provided [RCV001007017]	Chr18:55458425..78014123 [GRCh37] Chr18:18q21.31-23	pathogenic
GRCh37/hg19 18q21.33-23(chr18:60098018-78014123)x1	copy number loss	not provided [RCV001007019]	Chr18:60098018..78014123 [GRCh37] Chr18:18q21.33-23	pathogenic
GRCh37/hg19 18q11.2-23(chr18:23626739-78014976)x3	copy number gain	not provided [RCV001537911]	Chr18:23626739..78014976 [GRCh37] Chr18:18q11.2-23	pathogenic
GRCh37/hg19 18p11.32-q23(chr18:1-78077248)	copy number gain	Trisomy 18 [RCV002280660]	Chr18:1..78077248 [GRCh37] Chr18:18p11.32-q23	pathogenic
GRCh37/hg19 18q21.2-23(chr18:51925586-78010032)	copy number gain	Global developmental delay [RCV001352665]	Chr18:51925586..78010032 [GRCh37] Chr18:18q21.2-23	pathogenic
GRCh37/hg19 18q21.31-23(chr18:54285235-77960815)x1	copy number loss	not provided [RCV001531449]	Chr18:54285235..77960815 [GRCh37] Chr18:18q21.31-23	pathogenic
GRCh37/hg19 18q21.2-23(chr18:52837852-77989426)	copy number loss	not specified [RCV002052642]	Chr18:52837852..77989426 [GRCh37] Chr18:18q21.2-23	pathogenic
GRCh37/hg19 18q21.2-23(chr18:53309113-78014123)	copy number loss	not specified [RCV002052646]	Chr18:53309113..78014123 [GRCh37] Chr18:18q21.2-23	pathogenic
GRCh37/hg19 18q21.2-23(chr18:52675201-78014123)	copy number loss	not specified [RCV002052641]	Chr18:52675201..78014123 [GRCh37] Chr18:18q21.2-23	pathogenic
GRCh37/hg19 18p11.32-q23(chr18:136226-78014123)	copy number gain	not specified [RCV002052616]	Chr18:136226..78014123 [GRCh37] Chr18:18p11.32-q23	pathogenic
GRCh37/hg19 18q21.2-22.1(chr18:50739715-63705988)	copy number loss	not specified [RCV002052639]	Chr18:50739715..63705988 [GRCh37] Chr18:18q21.2-22.1	pathogenic
GRCh37/hg19 18q21.2-23(chr18:53100584-78014123)	copy number loss	not specified [RCV002052643]	Chr18:53100584..78014123 [GRCh37] Chr18:18q21.2-23	pathogenic
GRCh37/hg19 18q21.1-23(chr18:47656799-78014123)	copy number loss	not specified [RCV002052636]	Chr18:47656799..78014123 [GRCh37] Chr18:18q21.1-23	pathogenic
GRCh37/hg19 18q21.32-23(chr18:58305972-78014123)	copy number loss	not specified [RCV002052647]	Chr18:58305972..78014123 [GRCh37] Chr18:18q21.32-23	pathogenic
GRCh37/hg19 18q21.33-23(chr18:59332806-78014123)	copy number loss	not specified [RCV002052649]	Chr18:59332806..78014123 [GRCh37] Chr18:18q21.33-23	pathogenic
NC_000018.9:g.(?_59713089)_(61654512_?)del	deletion	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001898809]\|not provided [RCV001909119]	Chr18:59713089..61654512 [GRCh37] Chr18:18q21.33-22.1	pathogenic\|no classifications from unflagged records
NC_000018.9:g.(?_59713089)_(61654512_?)dup	duplication	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002029497]	Chr18:59713089..61654512 [GRCh37] Chr18:18q21.33-22.1	uncertain significance
GRCh37/hg19 18q21.33-23(chr18:61289055-78014123)	copy number loss	Deletion of long arm of chromosome 18 [RCV002280712]	Chr18:61289055..78014123 [GRCh37] Chr18:18q21.33-23	pathogenic
NM_001370475.1(SERPINB11):c.860C>A (p.Pro287His)	single nucleotide variant	Inborn genetic diseases [RCV003286267]	Chr18:63723080 [GRCh38] Chr18:61390314 [GRCh37] Chr18:18q21.33	uncertain significance
GRCh37/hg19 18q21.2-23(chr18:53624405-78014123)x1	copy number loss	not provided [RCV002473956]	Chr18:53624405..78014123 [GRCh37] Chr18:18q21.2-23	pathogenic
NM_001370475.1(SERPINB11):c.686C>T (p.Pro229Leu)	single nucleotide variant	Inborn genetic diseases [RCV002683140]	Chr18:63720898 [GRCh38] Chr18:61388132 [GRCh37] Chr18:18q21.33	uncertain significance
NM_001370475.1(SERPINB11):c.26T>C (p.Val9Ala)	single nucleotide variant	Inborn genetic diseases [RCV002997162]	Chr18:63710219 [GRCh38] Chr18:61377453 [GRCh37] Chr18:18q21.33	uncertain significance
NM_001370475.1(SERPINB11):c.922G>T (p.Asp308Tyr)	single nucleotide variant	Inborn genetic diseases [RCV002972943]	Chr18:63723142 [GRCh38] Chr18:61390376 [GRCh37] Chr18:18q21.33	uncertain significance
NM_001370475.1(SERPINB11):c.1085G>T (p.Arg362Ile)	single nucleotide variant	Inborn genetic diseases [RCV002974723]	Chr18:63723305 [GRCh38] Chr18:61390539 [GRCh37] Chr18:18q21.33	uncertain significance
NM_001370475.1(SERPINB11):c.80A>T (p.Asn27Ile)	single nucleotide variant	Inborn genetic diseases [RCV002757036]	Chr18:63710273 [GRCh38] Chr18:61377507 [GRCh37] Chr18:18q21.33	uncertain significance
NM_001370475.1(SERPINB11):c.839G>C (p.Arg280Thr)	single nucleotide variant	Inborn genetic diseases [RCV002757612]	Chr18:63723059 [GRCh38] Chr18:61390293 [GRCh37] Chr18:18q21.33	uncertain significance
NM_001370475.1(SERPINB11):c.751G>A (p.Val251Ile)	single nucleotide variant	Inborn genetic diseases [RCV002703937]	Chr18:63720963 [GRCh38] Chr18:61388197 [GRCh37] Chr18:18q21.33	uncertain significance
NM_001370475.1(SERPINB11):c.367A>G (p.Ser123Gly)	single nucleotide variant	Inborn genetic diseases [RCV002709006]	Chr18:63716044 [GRCh38] Chr18:61383278 [GRCh37] Chr18:18q21.33	uncertain significance
NM_001370475.1(SERPINB11):c.434C>G (p.Thr145Arg)	single nucleotide variant	Inborn genetic diseases [RCV002956304]	Chr18:63716111 [GRCh38] Chr18:61383345 [GRCh37] Chr18:18q21.33	uncertain significance
NM_001370475.1(SERPINB11):c.169G>C (p.Val57Leu)	single nucleotide variant	Inborn genetic diseases [RCV002850763]	Chr18:63711335 [GRCh38] Chr18:61378569 [GRCh37] Chr18:18q21.33	uncertain significance
NM_001370475.1(SERPINB11):c.731G>A (p.Ser244Asn)	single nucleotide variant	Inborn genetic diseases [RCV002986205]	Chr18:63720943 [GRCh38] Chr18:61388177 [GRCh37] Chr18:18q21.33	uncertain significance
NM_001370475.1(SERPINB11):c.1088C>T (p.Ala363Val)	single nucleotide variant	Inborn genetic diseases [RCV002939768]	Chr18:63723308 [GRCh38] Chr18:61390542 [GRCh37] Chr18:18q21.33	uncertain significance
NM_001370475.1(SERPINB11):c.970A>G (p.Lys324Glu)	single nucleotide variant	Inborn genetic diseases [RCV002897173]	Chr18:63723190 [GRCh38] Chr18:61390424 [GRCh37] Chr18:18q21.33	uncertain significance
NM_001370475.1(SERPINB11):c.833T>C (p.Met278Thr)	single nucleotide variant	Inborn genetic diseases [RCV002714484]	Chr18:63723053 [GRCh38] Chr18:61390287 [GRCh37] Chr18:18q21.33	uncertain significance
NM_001370475.1(SERPINB11):c.584G>A (p.Arg195Lys)	single nucleotide variant	Inborn genetic diseases [RCV002648399]	Chr18:63720121 [GRCh38] Chr18:61387355 [GRCh37] Chr18:18q21.33	uncertain significance
NM_001370475.1(SERPINB11):c.545T>C (p.Ile182Thr)	single nucleotide variant	Inborn genetic diseases [RCV003176132]	Chr18:63720082 [GRCh38] Chr18:61387316 [GRCh37] Chr18:18q21.33	uncertain significance
NM_001370475.1(SERPINB11):c.634G>A (p.Val212Met)	single nucleotide variant	Inborn genetic diseases [RCV003196374]	Chr18:63720846 [GRCh38] Chr18:61388080 [GRCh37] Chr18:18q21.33	uncertain significance
NM_001370475.1(SERPINB11):c.1133C>T (p.Thr378Ile)	single nucleotide variant	Inborn genetic diseases [RCV003286922]	Chr18:63723353 [GRCh38] Chr18:61390587 [GRCh37] Chr18:18q21.33	likely benign
NM_001370475.1(SERPINB11):c.55C>G (p.Leu19Val)	single nucleotide variant	Inborn genetic diseases [RCV003385457]	Chr18:63710248 [GRCh38] Chr18:61377482 [GRCh37] Chr18:18q21.33	uncertain significance
NM_001370475.1(SERPINB11):c.277C>G (p.Gln93Glu)	single nucleotide variant	Inborn genetic diseases [RCV003349570]	Chr18:63712613 [GRCh38] Chr18:61379847 [GRCh37] Chr18:18q21.33	uncertain significance
GRCh37/hg19 18q21.33-23(chr18:60771809-78014123)x1	copy number loss	not provided [RCV003483341]	Chr18:60771809..78014123 [GRCh37] Chr18:18q21.33-23	pathogenic
NM_001370475.1(SERPINB11):c.341C>T (p.Thr114Met)	single nucleotide variant	not provided [RCV003413472]	Chr18:63712677 [GRCh38] Chr18:61379911 [GRCh37] Chr18:18q21.33	likely benign
GRCh37/hg19 18q21.32-22.3(chr18:58508272-70495604)x3	copy number gain	not specified [RCV003986100]	Chr18:58508272..70495604 [GRCh37] Chr18:18q21.32-22.3	likely pathogenic
GRCh37/hg19 18q21.2-23(chr18:48766173-78014123)x1	copy number loss	not specified [RCV003986103]	Chr18:48766173..78014123 [GRCh37] Chr18:18q21.2-23	pathogenic
GRCh37/hg19 18q21.31-23(chr18:55363398-78014123)x1	copy number loss	not specified [RCV003987273]	Chr18:55363398..78014123 [GRCh37] Chr18:18q21.31-23	pathogenic

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	740
Count of miRNA genes:	310
Interacting mature miRNAs:	335
Transcripts:	ENST00000382749, ENST00000467649, ENST00000489748, ENST00000536691, ENST00000538847, ENST00000544088
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

ECD00120

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,387,855 - 61,388,788	UniSTS	GRCh37
Build 36	18	59,538,835 - 59,539,768	RGD	NCBI36
Celera	18	58,108,353 - 58,109,286	RGD
HuRef	18	58,089,257 - 58,090,190	UniSTS

ECD00995

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,389,820 - 61,390,701	UniSTS	GRCh37
Build 36	18	59,540,800 - 59,541,681	RGD	NCBI36
Celera	18	58,110,318 - 58,111,199	RGD
HuRef	18	58,091,222 - 58,092,103	UniSTS

ECD01334

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,388,937 - 61,389,751	UniSTS	GRCh37
GRCh37	18	61,388,883 - 61,389,751	UniSTS	GRCh37
Build 36	18	59,539,863 - 59,540,731	RGD	NCBI36
Celera	18	58,109,435 - 58,110,249	UniSTS
Celera	18	58,109,381 - 58,110,249	RGD
HuRef	18	58,090,339 - 58,091,153	UniSTS
HuRef	18	58,090,285 - 58,091,153	UniSTS

ECD02170

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,386,862 - 61,387,700	UniSTS	GRCh37
Build 36	18	59,537,842 - 59,538,680	RGD	NCBI36
Celera	18	58,107,360 - 58,108,198	RGD
HuRef	18	58,088,264 - 58,089,102	UniSTS

ECD08350

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,378,840 - 61,379,496	UniSTS	GRCh37
Build 36	18	59,529,820 - 59,530,476	RGD	NCBI36
Celera	18	58,099,338 - 58,099,994	RGD
HuRef	18	58,079,788 - 58,080,444	UniSTS

ECD09203

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,371,422 - 61,372,056	UniSTS	GRCh37
Build 36	18	59,522,402 - 59,523,036	RGD	NCBI36
Celera	18	58,091,920 - 58,092,554	RGD
HuRef	18	58,072,370 - 58,073,004	UniSTS

ECD09862

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,370,064 - 61,370,681	UniSTS	GRCh37
Build 36	18	59,521,044 - 59,521,661	RGD	NCBI36
Celera	18	58,090,559 - 58,091,176	RGD
HuRef	18	58,071,009 - 58,071,626	UniSTS

ECD10059

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,370,806 - 61,371,417	UniSTS	GRCh37
Build 36	18	59,521,786 - 59,522,397	RGD	NCBI36
Celera	18	58,091,301 - 58,091,915	RGD
HuRef	18	58,071,751 - 58,072,365	UniSTS

ECD10407

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,373,302 - 61,373,904	UniSTS	GRCh37
Build 36	18	59,524,282 - 59,524,884	RGD	NCBI36
Celera	18	58,093,800 - 58,094,402	RGD
HuRef	18	58,074,250 - 58,074,852	UniSTS

ECD11257

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,379,591 - 61,380,168	UniSTS	GRCh37
Build 36	18	59,530,571 - 59,531,148	RGD	NCBI36
Celera	18	58,100,089 - 58,100,666	RGD
HuRef	18	58,080,539 - 58,081,081	UniSTS

ECD11359

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,368,340 - 61,368,914	UniSTS	GRCh37
Build 36	18	59,519,320 - 59,519,894	RGD	NCBI36
Celera	18	58,088,835 - 58,089,409	RGD
HuRef	18	58,069,285 - 58,069,859	UniSTS

ECD12073

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,380,700 - 61,381,253	UniSTS	GRCh37
Build 36	18	59,531,680 - 59,532,233	RGD	NCBI36
Celera	18	58,101,198 - 58,101,751	RGD
HuRef	18	58,081,613 - 58,082,166	UniSTS

ECD12145

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,368,945 - 61,369,496	UniSTS	GRCh37
Build 36	18	59,519,925 - 59,520,476	RGD	NCBI36
Celera	18	58,089,440 - 58,089,991	RGD
HuRef	18	58,069,890 - 58,070,441	UniSTS

ECD12586

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,372,698 - 61,373,237	UniSTS	GRCh37
Build 36	18	59,523,678 - 59,524,217	RGD	NCBI36
Celera	18	58,093,196 - 58,093,735	RGD
HuRef	18	58,073,646 - 58,074,185	UniSTS

ECD13951

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,376,910 - 61,377,414	UniSTS	GRCh37
Build 36	18	59,527,890 - 59,528,394	RGD	NCBI36
Celera	18	58,097,408 - 58,097,912	RGD
HuRef	18	58,077,858 - 58,078,362	UniSTS

ECD15990

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,383,130 - 61,383,586	UniSTS	GRCh37
Build 36	18	59,534,110 - 59,534,566	RGD	NCBI36
Celera	18	58,103,628 - 58,104,084	RGD
HuRef	18	58,084,043 - 58,084,499	UniSTS

ECD16663

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,377,451 - 61,377,881	UniSTS	GRCh37
Build 36	18	59,528,431 - 59,528,861	RGD	NCBI36
Celera	18	58,097,949 - 58,098,379	RGD
HuRef	18	58,078,399 - 58,078,829	UniSTS

ECD16877

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,382,357 - 61,382,778	UniSTS	GRCh37
Build 36	18	59,533,337 - 59,533,758	RGD	NCBI36
Celera	18	58,102,855 - 58,103,276	RGD
HuRef	18	58,083,270 - 58,083,691	UniSTS

ECD18331

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,386,384 - 61,386,747	UniSTS	GRCh37
Build 36	18	59,537,364 - 59,537,727	RGD	NCBI36
Celera	18	58,106,882 - 58,107,245	RGD
HuRef	18	58,087,786 - 58,088,149	UniSTS

ECD21831

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,378,526 - 61,378,763	UniSTS	GRCh37
Build 36	18	59,529,506 - 59,529,743	RGD	NCBI36
Celera	18	58,099,024 - 58,099,261	RGD
HuRef	18	58,079,474 - 58,079,711	UniSTS

ECD22145

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,374,491 - 61,374,718	UniSTS	GRCh37
Build 36	18	59,525,471 - 59,525,698	RGD	NCBI36
Celera	18	58,094,989 - 58,095,216	RGD
HuRef	18	58,075,439 - 58,075,666	UniSTS

ECD22645

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,376,335 - 61,376,547	UniSTS	GRCh37
Build 36	18	59,527,315 - 59,527,527	RGD	NCBI36
Celera	18	58,096,833 - 58,097,045	RGD
HuRef	18	58,077,283 - 58,077,495	UniSTS

ECD24170

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,391,005 - 61,391,160	UniSTS	GRCh37
Build 36	18	59,541,985 - 59,542,140	RGD	NCBI36
Celera	18	58,111,503 - 58,111,658	RGD
HuRef	18	58,092,407 - 58,092,562	UniSTS

ECD24415

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,378,174 - 61,378,304	UniSTS	GRCh37
Build 36	18	59,529,154 - 59,529,284	RGD	NCBI36
Celera	18	58,098,672 - 58,098,802	RGD
HuRef	18	58,079,122 - 58,079,252	UniSTS

REN10932

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,368,342 - 61,368,592	UniSTS	GRCh37
Build 36	18	59,519,322 - 59,519,572	RGD	NCBI36
Celera	18	58,088,837 - 58,089,087	RGD
HuRef	18	58,069,287 - 58,069,537	UniSTS

REN10933

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,368,569 - 61,368,816	UniSTS	GRCh37
Build 36	18	59,519,549 - 59,519,796	RGD	NCBI36
Celera	18	58,089,064 - 58,089,311	RGD
HuRef	18	58,069,514 - 58,069,761	UniSTS

REN10934

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,368,783 - 61,369,031	UniSTS	GRCh37
Build 36	18	59,519,763 - 59,520,011	RGD	NCBI36
Celera	18	58,089,278 - 58,089,526	RGD
HuRef	18	58,069,728 - 58,069,976	UniSTS

REN10935

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,369,028 - 61,369,269	UniSTS	GRCh37
Build 36	18	59,520,008 - 59,520,249	RGD	NCBI36
Celera	18	58,089,523 - 58,089,764	RGD
HuRef	18	58,069,973 - 58,070,214	UniSTS

REN10936

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,369,245 - 61,369,500	UniSTS	GRCh37
Build 36	18	59,520,225 - 59,520,480	RGD	NCBI36
Celera	18	58,089,740 - 58,089,995	RGD
HuRef	18	58,070,190 - 58,070,445	UniSTS

REN10937

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,369,316 - 61,369,542	UniSTS	GRCh37
Build 36	18	59,520,296 - 59,520,522	RGD	NCBI36
Celera	18	58,089,811 - 58,090,037	RGD
HuRef	18	58,070,261 - 58,070,487	UniSTS

REN10938

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,369,836 - 61,370,067	UniSTS	GRCh37
Build 36	18	59,520,816 - 59,521,047	RGD	NCBI36
Celera	18	58,090,331 - 58,090,562	RGD
HuRef	18	58,070,781 - 58,071,012	UniSTS

REN10939

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,370,047 - 61,370,289	UniSTS	GRCh37
Build 36	18	59,521,027 - 59,521,269	RGD	NCBI36
Celera	18	58,090,542 - 58,090,784	RGD
HuRef	18	58,070,992 - 58,071,234	UniSTS

REN10940

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,370,266 - 61,370,505	UniSTS	GRCh37
Build 36	18	59,521,246 - 59,521,485	RGD	NCBI36
Celera	18	58,090,761 - 58,091,000	RGD
HuRef	18	58,071,211 - 58,071,450	UniSTS

REN10941

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,370,489 - 61,370,737	UniSTS	GRCh37
Build 36	18	59,521,469 - 59,521,717	RGD	NCBI36
Celera	18	58,090,984 - 58,091,232	RGD
HuRef	18	58,071,434 - 58,071,682	UniSTS

REN10942

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,370,717 - 61,370,941	UniSTS	GRCh37
Build 36	18	59,521,697 - 59,521,921	RGD	NCBI36
Celera	18	58,091,212 - 58,091,436	RGD
HuRef	18	58,071,662 - 58,071,886	UniSTS

REN10943

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,370,911 - 61,371,167	UniSTS	GRCh37
Build 36	18	59,521,891 - 59,522,147	RGD	NCBI36
Celera	18	58,091,406 - 58,091,662	RGD
HuRef	18	58,071,856 - 58,072,112	UniSTS

REN10944

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,371,144 - 61,371,399	UniSTS	GRCh37
Build 36	18	59,522,124 - 59,522,379	RGD	NCBI36
Celera	18	58,091,639 - 58,091,897	RGD
HuRef	18	58,072,089 - 58,072,347	UniSTS

REN10945

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,371,397 - 61,371,643	UniSTS	GRCh37
Build 36	18	59,522,377 - 59,522,623	RGD	NCBI36
Celera	18	58,091,895 - 58,092,141	RGD
HuRef	18	58,072,345 - 58,072,591	UniSTS

REN10946

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,371,528 - 61,371,778	UniSTS	GRCh37
Build 36	18	59,522,508 - 59,522,758	RGD	NCBI36
Celera	18	58,092,026 - 58,092,276	RGD
HuRef	18	58,072,476 - 58,072,726	UniSTS

REN10947

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,371,754 - 61,371,998	UniSTS	GRCh37
Build 36	18	59,522,734 - 59,522,978	RGD	NCBI36
Celera	18	58,092,252 - 58,092,496	RGD
HuRef	18	58,072,702 - 58,072,946	UniSTS

REN10948

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,371,975 - 61,372,227	UniSTS	GRCh37
Build 36	18	59,522,955 - 59,523,207	RGD	NCBI36
Celera	18	58,092,473 - 58,092,725	RGD
HuRef	18	58,072,923 - 58,073,175	UniSTS

REN10949

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,372,077 - 61,372,303	UniSTS	GRCh37
Build 36	18	59,523,057 - 59,523,283	RGD	NCBI36
Celera	18	58,092,575 - 58,092,801	RGD
HuRef	18	58,073,025 - 58,073,251	UniSTS

REN10950

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,372,458 - 61,372,716	UniSTS	GRCh37
Build 36	18	59,523,438 - 59,523,696	RGD	NCBI36
Celera	18	58,092,956 - 58,093,214	RGD
HuRef	18	58,073,406 - 58,073,664	UniSTS

REN10951

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,372,701 - 61,372,954	UniSTS	GRCh37
Build 36	18	59,523,681 - 59,523,934	RGD	NCBI36
Celera	18	58,093,199 - 58,093,452	RGD
HuRef	18	58,073,649 - 58,073,902	UniSTS

REN10952

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,372,930 - 61,373,168	UniSTS	GRCh37
Build 36	18	59,523,910 - 59,524,148	RGD	NCBI36
Celera	18	58,093,428 - 58,093,666	RGD
HuRef	18	58,073,878 - 58,074,116	UniSTS

REN10953

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,373,146 - 61,373,404	UniSTS	GRCh37
Build 36	18	59,524,126 - 59,524,384	RGD	NCBI36
Celera	18	58,093,644 - 58,093,902	RGD
HuRef	18	58,074,094 - 58,074,352	UniSTS

REN10954

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,373,381 - 61,373,625	UniSTS	GRCh37
Build 36	18	59,524,361 - 59,524,605	RGD	NCBI36
Celera	18	58,093,879 - 58,094,123	RGD
HuRef	18	58,074,329 - 58,074,573	UniSTS

REN10955

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,373,604 - 61,373,856	UniSTS	GRCh37
Build 36	18	59,524,584 - 59,524,836	RGD	NCBI36
Celera	18	58,094,102 - 58,094,354	RGD
HuRef	18	58,074,552 - 58,074,804	UniSTS

REN10956

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,373,847 - 61,374,099	UniSTS	GRCh37
Build 36	18	59,524,827 - 59,525,079	RGD	NCBI36
Celera	18	58,094,345 - 58,094,597	RGD
HuRef	18	58,074,795 - 58,075,047	UniSTS

REN10957

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,374,087 - 61,374,332	UniSTS	GRCh37
Build 36	18	59,525,067 - 59,525,312	RGD	NCBI36
Celera	18	58,094,585 - 58,094,830	RGD
HuRef	18	58,075,035 - 58,075,280	UniSTS

REN10958

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,374,306 - 61,374,552	UniSTS	GRCh37
Build 36	18	59,525,286 - 59,525,532	RGD	NCBI36
Celera	18	58,094,804 - 58,095,050	RGD
HuRef	18	58,075,254 - 58,075,500	UniSTS

REN10959

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,374,515 - 61,374,763	UniSTS	GRCh37
Build 36	18	59,525,495 - 59,525,743	RGD	NCBI36
Celera	18	58,095,013 - 58,095,261	RGD
HuRef	18	58,075,463 - 58,075,711	UniSTS

REN10960

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,374,756 - 61,375,004	UniSTS	GRCh37
Build 36	18	59,525,736 - 59,525,984	RGD	NCBI36
Celera	18	58,095,254 - 58,095,502	RGD
HuRef	18	58,075,704 - 58,075,952	UniSTS

REN10961

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,374,974 - 61,375,233	UniSTS	GRCh37
Build 36	18	59,525,954 - 59,526,213	RGD	NCBI36
Celera	18	58,095,472 - 58,095,731	RGD
HuRef	18	58,075,922 - 58,076,181	UniSTS

REN10962

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,375,210 - 61,375,461	UniSTS	GRCh37
Build 36	18	59,526,190 - 59,526,441	RGD	NCBI36
Celera	18	58,095,708 - 58,095,959	RGD
HuRef	18	58,076,158 - 58,076,409	UniSTS

REN10963

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,375,438 - 61,375,674	UniSTS	GRCh37
Build 36	18	59,526,418 - 59,526,654	RGD	NCBI36
Celera	18	58,095,936 - 58,096,172	RGD
HuRef	18	58,076,386 - 58,076,622	UniSTS

REN10964

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,375,671 - 61,375,931	UniSTS	GRCh37
Build 36	18	59,526,651 - 59,526,911	RGD	NCBI36
Celera	18	58,096,169 - 58,096,429	RGD
HuRef	18	58,076,619 - 58,076,879	UniSTS

REN10965

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,375,928 - 61,376,178	UniSTS	GRCh37
Build 36	18	59,526,908 - 59,527,158	RGD	NCBI36
Celera	18	58,096,426 - 58,096,676	RGD
HuRef	18	58,076,876 - 58,077,126	UniSTS

REN10966

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,376,154 - 61,376,414	UniSTS	GRCh37
Build 36	18	59,527,134 - 59,527,394	RGD	NCBI36
Celera	18	58,096,652 - 58,096,912	RGD
HuRef	18	58,077,102 - 58,077,362	UniSTS

REN10967

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,376,305 - 61,376,551	UniSTS	GRCh37
Build 36	18	59,527,285 - 59,527,531	RGD	NCBI36
Celera	18	58,096,803 - 58,097,049	RGD
HuRef	18	58,077,253 - 58,077,499	UniSTS

REN10968

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,376,912 - 61,377,136	UniSTS	GRCh37
Build 36	18	59,527,892 - 59,528,116	RGD	NCBI36
Celera	18	58,097,410 - 58,097,634	RGD
HuRef	18	58,077,860 - 58,078,084	UniSTS

REN10969

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,377,107 - 61,377,336	UniSTS	GRCh37
Build 36	18	59,528,087 - 59,528,316	RGD	NCBI36
Celera	18	58,097,605 - 58,097,834	RGD
HuRef	18	58,078,055 - 58,078,284	UniSTS

REN10970

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,377,327 - 61,377,597	UniSTS	GRCh37
Build 36	18	59,528,307 - 59,528,577	RGD	NCBI36
Celera	18	58,097,825 - 58,098,095	RGD
HuRef	18	58,078,275 - 58,078,545	UniSTS

REN10971

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,377,574 - 61,377,814	UniSTS	GRCh37
Build 36	18	59,528,554 - 59,528,794	RGD	NCBI36
Celera	18	58,098,072 - 58,098,312	RGD
HuRef	18	58,078,522 - 58,078,762	UniSTS

REN10972

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,377,791 - 61,378,039	UniSTS	GRCh37
Build 36	18	59,528,771 - 59,529,019	RGD	NCBI36
Celera	18	58,098,289 - 58,098,537	RGD
HuRef	18	58,078,739 - 58,078,987	UniSTS

REN10973

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,378,037 - 61,378,282	UniSTS	GRCh37
Build 36	18	59,529,017 - 59,529,262	RGD	NCBI36
Celera	18	58,098,535 - 58,098,780	RGD
HuRef	18	58,078,985 - 58,079,230	UniSTS

REN10974

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,378,235 - 61,378,462	UniSTS	GRCh37
Build 36	18	59,529,215 - 59,529,442	RGD	NCBI36
Celera	18	58,098,733 - 58,098,960	RGD
HuRef	18	58,079,183 - 58,079,410	UniSTS

REN10975

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,378,425 - 61,378,668	UniSTS	GRCh37
Build 36	18	59,529,405 - 59,529,648	RGD	NCBI36
Celera	18	58,098,923 - 58,099,166	RGD
HuRef	18	58,079,373 - 58,079,616	UniSTS

REN10976

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,378,656 - 61,378,917	UniSTS	GRCh37
Build 36	18	59,529,636 - 59,529,897	RGD	NCBI36
Celera	18	58,099,154 - 58,099,415	RGD
HuRef	18	58,079,604 - 58,079,865	UniSTS

REN10977

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,378,896 - 61,379,138	UniSTS	GRCh37
Build 36	18	59,529,876 - 59,530,118	RGD	NCBI36
Celera	18	58,099,394 - 58,099,636	RGD
HuRef	18	58,079,844 - 58,080,086	UniSTS

REN10978

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,379,114 - 61,379,378	UniSTS	GRCh37
Build 36	18	59,530,094 - 59,530,358	RGD	NCBI36
Celera	18	58,099,612 - 58,099,876	RGD
HuRef	18	58,080,062 - 58,080,326	UniSTS

REN10979

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,379,367 - 61,379,614	UniSTS	GRCh37
Build 36	18	59,530,347 - 59,530,594	RGD	NCBI36
Celera	18	58,099,865 - 58,100,112	RGD
HuRef	18	58,080,315 - 58,080,562	UniSTS

REN10980

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,379,605 - 61,379,861	UniSTS	GRCh37
Build 36	18	59,530,585 - 59,530,841	RGD	NCBI36
Celera	18	58,100,103 - 58,100,359	RGD
HuRef	18	58,080,553 - 58,080,774	UniSTS

REN10981

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,379,854 - 61,380,111	UniSTS	GRCh37
Build 36	18	59,530,834 - 59,531,091	RGD	NCBI36
Celera	18	58,100,352 - 58,100,609	RGD
HuRef	18	58,080,767 - 58,081,024	UniSTS

REN10982

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,380,079 - 61,380,304	UniSTS	GRCh37
Build 36	18	59,531,059 - 59,531,284	RGD	NCBI36
Celera	18	58,100,577 - 58,100,802	RGD
HuRef	18	58,080,992 - 58,081,217	UniSTS

REN10983

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,380,281 - 61,380,539	UniSTS	GRCh37
Build 36	18	59,531,261 - 59,531,519	RGD	NCBI36
Celera	18	58,100,779 - 58,101,037	RGD
HuRef	18	58,081,194 - 58,081,452	UniSTS

REN10984

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,380,516 - 61,380,766	UniSTS	GRCh37
Build 36	18	59,531,496 - 59,531,746	RGD	NCBI36
Celera	18	58,101,014 - 58,101,264	RGD
HuRef	18	58,081,429 - 58,081,679	UniSTS

REN10985

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,380,742 - 61,381,008	UniSTS	GRCh37
Build 36	18	59,531,722 - 59,531,988	RGD	NCBI36
Celera	18	58,101,240 - 58,101,506	RGD
HuRef	18	58,081,655 - 58,081,921	UniSTS

REN10986

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,380,998 - 61,381,246	UniSTS	GRCh37
Build 36	18	59,531,978 - 59,532,226	RGD	NCBI36
Celera	18	58,101,496 - 58,101,744	RGD
HuRef	18	58,081,911 - 58,082,159	UniSTS

REN10987

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,381,125 - 61,381,385	UniSTS	GRCh37
Build 36	18	59,532,105 - 59,532,365	RGD	NCBI36
Celera	18	58,101,623 - 58,101,883	RGD
HuRef	18	58,082,038 - 58,082,298	UniSTS

REN10989

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,381,386 - 61,381,638	UniSTS	GRCh37
Build 36	18	59,532,366 - 59,532,618	RGD	NCBI36
Celera	18	58,101,884 - 58,102,136	RGD
HuRef	18	58,082,299 - 58,082,551	UniSTS

REN10990

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	1	160,570,203 - 160,570,455	UniSTS	GRCh37
GRCh37	18	61,381,614 - 61,381,866	UniSTS	GRCh37
Build 36	1	158,836,827 - 158,837,079	RGD	NCBI36
Celera	1	133,638,944 - 133,639,196	RGD
Celera	18	58,102,112 - 58,102,364	UniSTS
HuRef	18	58,082,527 - 58,082,779	UniSTS
HuRef	1	131,926,418 - 131,926,670	UniSTS

REN10992

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,382,105 - 61,382,377	UniSTS	GRCh37
Build 36	18	59,533,085 - 59,533,357	RGD	NCBI36
Celera	18	58,102,603 - 58,102,875	RGD
HuRef	18	58,083,018 - 58,083,290	UniSTS

REN10993

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,382,357 - 61,382,598	UniSTS	GRCh37
Build 36	18	59,533,337 - 59,533,578	RGD	NCBI36
Celera	18	58,102,855 - 58,103,096	RGD
HuRef	18	58,083,270 - 58,083,511	UniSTS

REN10994

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,382,576 - 61,382,822	UniSTS	GRCh37
Build 36	18	59,533,556 - 59,533,802	RGD	NCBI36
Celera	18	58,103,074 - 58,103,320	RGD
HuRef	18	58,083,489 - 58,083,735	UniSTS

REN10995

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,382,799 - 61,383,044	UniSTS	GRCh37
Build 36	18	59,533,779 - 59,534,024	RGD	NCBI36
Celera	18	58,103,297 - 58,103,542	RGD
HuRef	18	58,083,712 - 58,083,957	UniSTS

REN10996

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,382,985 - 61,383,250	UniSTS	GRCh37
Build 36	18	59,533,965 - 59,534,230	RGD	NCBI36
Celera	18	58,103,483 - 58,103,748	RGD
HuRef	18	58,083,898 - 58,084,163	UniSTS

REN10997

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,383,226 - 61,383,476	UniSTS	GRCh37
Build 36	18	59,534,206 - 59,534,456	RGD	NCBI36
Celera	18	58,103,724 - 58,103,974	RGD
HuRef	18	58,084,139 - 58,084,389	UniSTS

REN10998

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,383,453 - 61,383,689	UniSTS	GRCh37
Build 36	18	59,534,433 - 59,534,669	RGD	NCBI36
Celera	18	58,103,951 - 58,104,187	RGD
HuRef	18	58,084,366 - 58,084,602	UniSTS

REN10999

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,383,604 - 61,383,849	UniSTS	GRCh37
Build 36	18	59,534,584 - 59,534,829	RGD	NCBI36
Celera	18	58,104,102 - 58,104,347	RGD
HuRef	18	58,084,517 - 58,084,762	UniSTS

REN11000

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,383,821 - 61,384,059	UniSTS	GRCh37
Build 36	18	59,534,801 - 59,535,039	RGD	NCBI36
Celera	18	58,104,319 - 58,104,557	RGD
HuRef	18	58,084,734 - 58,084,972	UniSTS

REN11001

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,384,045 - 61,384,294	UniSTS	GRCh37
Build 36	18	59,535,025 - 59,535,274	RGD	NCBI36
Celera	18	58,104,543 - 58,104,792	RGD
HuRef	18	58,084,958 - 58,085,207	UniSTS

REN11002

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,384,231 - 61,384,455	UniSTS	GRCh37
Build 36	18	59,535,211 - 59,535,435	RGD	NCBI36
Celera	18	58,104,729 - 58,104,953	RGD
HuRef	18	58,085,144 - 58,085,368	UniSTS

REN11003

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,384,428 - 61,384,698	UniSTS	GRCh37
Build 36	18	59,535,408 - 59,535,678	RGD	NCBI36
Celera	18	58,104,926 - 58,105,196	RGD
HuRef	18	58,085,341 - 58,085,611	UniSTS

REN11004

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,384,678 - 61,384,919	UniSTS	GRCh37
Build 36	18	59,535,658 - 59,535,899	RGD	NCBI36
Celera	18	58,105,176 - 58,105,417	RGD
HuRef	18	58,085,591 - 58,086,321	UniSTS

REN11005

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,384,905 - 61,385,144	UniSTS	GRCh37
Build 36	18	59,535,885 - 59,536,124	RGD	NCBI36
Celera	18	58,105,403 - 58,105,642	RGD
HuRef	18	58,086,307 - 58,086,546	UniSTS

REN11006

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,385,143 - 61,385,391	UniSTS	GRCh37
Build 36	18	59,536,123 - 59,536,371	RGD	NCBI36
Celera	18	58,105,641 - 58,105,889	RGD
HuRef	18	58,086,545 - 58,086,793	UniSTS

REN11007

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,385,368 - 61,385,630	UniSTS	GRCh37
Build 36	18	59,536,348 - 59,536,610	RGD	NCBI36
Celera	18	58,105,866 - 58,106,128	RGD
HuRef	18	58,086,770 - 58,087,032	UniSTS

REN11008

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,385,527 - 61,385,775	UniSTS	GRCh37
Build 36	18	59,536,507 - 59,536,755	RGD	NCBI36
Celera	18	58,106,025 - 58,106,273	RGD
HuRef	18	58,086,929 - 58,087,177	UniSTS

REN11009

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,385,759 - 61,386,009	UniSTS	GRCh37
Build 36	18	59,536,739 - 59,536,989	RGD	NCBI36
Celera	18	58,106,257 - 58,106,507	RGD
HuRef	18	58,087,161 - 58,087,411	UniSTS

REN11010

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,386,004 - 61,386,267	UniSTS	GRCh37
Build 36	18	59,536,984 - 59,537,247	RGD	NCBI36
Celera	18	58,106,502 - 58,106,765	RGD
HuRef	18	58,087,406 - 58,087,669	UniSTS

REN11011

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,386,184 - 61,386,433	UniSTS	GRCh37
Build 36	18	59,537,164 - 59,537,413	RGD	NCBI36
Celera	18	58,106,682 - 58,106,931	RGD
HuRef	18	58,087,586 - 58,087,835	UniSTS

REN11012

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,386,409 - 61,386,653	UniSTS	GRCh37
Build 36	18	59,537,389 - 59,537,633	RGD	NCBI36
Celera	18	58,106,907 - 58,107,151	RGD
HuRef	18	58,087,811 - 58,088,055	UniSTS

REN11013

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,386,626 - 61,386,881	UniSTS	GRCh37
Build 36	18	59,537,606 - 59,537,861	RGD	NCBI36
Celera	18	58,107,124 - 58,107,379	RGD
HuRef	18	58,088,028 - 58,088,283	UniSTS

REN11014

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,386,859 - 61,387,128	UniSTS	GRCh37
Build 36	18	59,537,839 - 59,538,108	RGD	NCBI36
Celera	18	58,107,357 - 58,107,626	RGD
HuRef	18	58,088,261 - 58,088,530	UniSTS

REN11015

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,387,117 - 61,387,350	UniSTS	GRCh37
Build 36	18	59,538,097 - 59,538,330	RGD	NCBI36
Celera	18	58,107,615 - 58,107,848	RGD
HuRef	18	58,088,519 - 58,088,752	UniSTS

REN11016

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,387,320 - 61,387,588	UniSTS	GRCh37
Build 36	18	59,538,300 - 59,538,568	RGD	NCBI36
Celera	18	58,107,818 - 58,108,086	RGD
HuRef	18	58,088,722 - 58,088,990	UniSTS

REN11017

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,387,484 - 61,387,709	UniSTS	GRCh37
Build 36	18	59,538,464 - 59,538,689	RGD	NCBI36
Celera	18	58,107,982 - 58,108,207	RGD
HuRef	18	58,088,886 - 58,089,111	UniSTS

REN11018

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,387,687 - 61,387,938	UniSTS	GRCh37
Build 36	18	59,538,667 - 59,538,918	RGD	NCBI36
Celera	18	58,108,185 - 58,108,436	RGD
HuRef	18	58,089,089 - 58,089,340	UniSTS

REN11019

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,387,908 - 61,388,166	UniSTS	GRCh37
Build 36	18	59,538,888 - 59,539,146	RGD	NCBI36
Celera	18	58,108,406 - 58,108,664	RGD
HuRef	18	58,089,310 - 58,089,568	UniSTS

REN11020

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,388,150 - 61,388,415	UniSTS	GRCh37
Build 36	18	59,539,130 - 59,539,395	RGD	NCBI36
Celera	18	58,108,648 - 58,108,913	RGD
HuRef	18	58,089,552 - 58,089,817	UniSTS

REN11021

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,388,390 - 61,388,624	UniSTS	GRCh37
Build 36	18	59,539,370 - 59,539,604	RGD	NCBI36
Celera	18	58,108,888 - 58,109,122	RGD
HuRef	18	58,089,792 - 58,090,026	UniSTS

REN11022

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,388,601 - 61,388,850	UniSTS	GRCh37
Build 36	18	59,539,581 - 59,539,830	RGD	NCBI36
Celera	18	58,109,099 - 58,109,348	RGD
HuRef	18	58,090,003 - 58,090,252	UniSTS

REN11023

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,388,838 - 61,389,067	UniSTS	GRCh37
Build 36	18	59,539,818 - 59,540,047	RGD	NCBI36
Celera	18	58,109,336 - 58,109,565	RGD
HuRef	18	58,090,240 - 58,090,469	UniSTS

REN11024

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,389,046 - 61,389,305	UniSTS	GRCh37
Build 36	18	59,540,026 - 59,540,285	RGD	NCBI36
Celera	18	58,109,544 - 58,109,803	RGD
HuRef	18	58,090,448 - 58,090,707	UniSTS

REN11025

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,389,282 - 61,389,546	UniSTS	GRCh37
Build 36	18	59,540,262 - 59,540,526	RGD	NCBI36
Celera	18	58,109,780 - 58,110,044	RGD
HuRef	18	58,090,684 - 58,090,948	UniSTS

REN11026

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,389,535 - 61,389,799	UniSTS	GRCh37
Build 36	18	59,540,515 - 59,540,779	RGD	NCBI36
Celera	18	58,110,033 - 58,110,297	RGD
HuRef	18	58,090,937 - 58,091,201	UniSTS

REN11027

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,389,784 - 61,390,008	UniSTS	GRCh37
Build 36	18	59,540,764 - 59,540,988	RGD	NCBI36
Celera	18	58,110,282 - 58,110,506	RGD
HuRef	18	58,091,186 - 58,091,410	UniSTS

REN11028

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,389,986 - 61,390,250	UniSTS	GRCh37
Build 36	18	59,540,966 - 59,541,230	RGD	NCBI36
Celera	18	58,110,484 - 58,110,748	RGD
HuRef	18	58,091,388 - 58,091,652	UniSTS

REN11029

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,390,219 - 61,390,464	UniSTS	GRCh37
Build 36	18	59,541,199 - 59,541,444	RGD	NCBI36
Celera	18	58,110,717 - 58,110,962	RGD
HuRef	18	58,091,621 - 58,091,866	UniSTS

REN11030

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,390,447 - 61,390,695	UniSTS	GRCh37
Build 36	18	59,541,427 - 59,541,675	RGD	NCBI36
Celera	18	58,110,945 - 58,111,193	RGD
HuRef	18	58,091,849 - 58,092,097	UniSTS

REN11031

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,390,674 - 61,390,906	UniSTS	GRCh37
Build 36	18	59,541,654 - 59,541,886	RGD	NCBI36
Celera	18	58,111,172 - 58,111,404	RGD
HuRef	18	58,092,076 - 58,092,308	UniSTS

REN11032

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,390,875 - 61,391,132	UniSTS	GRCh37
Build 36	18	59,541,855 - 59,542,112	RGD	NCBI36
Celera	18	58,111,373 - 58,111,630	RGD
HuRef	18	58,092,277 - 58,092,534	UniSTS

REN11033

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,390,985 - 61,391,244	UniSTS	GRCh37
Build 36	18	59,541,965 - 59,542,224	RGD	NCBI36
Celera	18	58,111,483 - 58,111,742	RGD
HuRef	18	58,092,387 - 58,092,646	UniSTS

REN11034

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,391,136 - 61,391,397	UniSTS	GRCh37
Build 36	18	59,542,116 - 59,542,377	RGD	NCBI36
Celera	18	58,111,634 - 58,111,895	RGD
HuRef	18	58,092,538 - 58,092,796	UniSTS

SERPINB11__6819

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,390,290 - 61,390,831	UniSTS	GRCh37
Build 36	18	59,541,270 - 59,541,811	RGD	NCBI36
Celera	18	58,110,788 - 58,111,329	RGD
HuRef	18	58,091,692 - 58,092,233	UniSTS

stSG619383

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,369,409 - 61,370,467	UniSTS	GRCh37
Build 36	18	59,520,389 - 59,521,447	RGD	NCBI36
Celera	18	58,089,904 - 58,090,962	RGD
HuRef	18	58,070,354 - 58,071,412	UniSTS

stSG619384

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,370,445 - 61,371,682	UniSTS	GRCh37
Build 36	18	59,521,425 - 59,522,662	RGD	NCBI36
Celera	18	58,090,940 - 58,092,180	RGD
HuRef	18	58,071,390 - 58,072,630	UniSTS

stSG619385

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,371,680 - 61,372,749	UniSTS	GRCh37
Build 36	18	59,522,660 - 59,523,729	RGD	NCBI36
Celera	18	58,092,178 - 58,093,247	RGD
HuRef	18	58,072,628 - 58,073,697	UniSTS

stSG619386

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,372,781 - 61,373,880	UniSTS	GRCh37
Build 36	18	59,523,761 - 59,524,860	RGD	NCBI36
Celera	18	58,093,279 - 58,094,378	RGD
HuRef	18	58,073,729 - 58,074,828	UniSTS

stSG619387

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,373,873 - 61,375,001	UniSTS	GRCh37
Build 36	18	59,524,853 - 59,525,981	RGD	NCBI36
Celera	18	58,094,371 - 58,095,499	RGD
HuRef	18	58,074,821 - 58,075,949	UniSTS

stSG619388

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,374,982 - 61,376,467	UniSTS	GRCh37
Build 36	18	59,525,962 - 59,527,447	RGD	NCBI36
Celera	18	58,095,480 - 58,096,965	RGD
HuRef	18	58,075,930 - 58,077,415	UniSTS

stSG619389

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,376,507 - 61,377,562	UniSTS	GRCh37
Build 36	18	59,527,487 - 59,528,542	RGD	NCBI36
Celera	18	58,097,005 - 58,098,060	RGD
HuRef	18	58,077,455 - 58,078,510	UniSTS

stSG619390

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,377,543 - 61,378,551	UniSTS	GRCh37
Build 36	18	59,528,523 - 59,529,531	RGD	NCBI36
Celera	18	58,098,041 - 58,099,049	RGD
HuRef	18	58,078,491 - 58,079,499	UniSTS

stSG619391

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,378,532 - 61,379,975	UniSTS	GRCh37
Build 36	18	59,529,512 - 59,530,955	RGD	NCBI36
Celera	18	58,099,030 - 58,100,473	RGD
HuRef	18	58,079,480 - 58,080,888	UniSTS

stSG619392

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,379,958 - 61,380,995	UniSTS	GRCh37
Build 36	18	59,530,938 - 59,531,975	RGD	NCBI36
Celera	18	58,100,456 - 58,101,493	RGD
HuRef	18	58,080,871 - 58,081,908	UniSTS

stSG619393

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,380,982 - 61,382,376	UniSTS	GRCh37
Build 36	18	59,531,962 - 59,533,356	RGD	NCBI36
Celera	18	58,101,480 - 58,102,874	RGD
HuRef	18	58,081,895 - 58,083,289	UniSTS

stSG619394

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,382,357 - 61,383,494	UniSTS	GRCh37
Build 36	18	59,533,337 - 59,534,474	RGD	NCBI36
Celera	18	58,102,855 - 58,103,992	RGD
HuRef	18	58,083,270 - 58,084,407	UniSTS

stSG619395

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,383,567 - 61,385,034	UniSTS	GRCh37
Build 36	18	59,534,547 - 59,536,014	RGD	NCBI36
Celera	18	58,104,065 - 58,105,532	RGD

stSG619396

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,385,015 - 61,386,423	UniSTS	GRCh37
Build 36	18	59,535,995 - 59,537,403	RGD	NCBI36
Celera	18	58,105,513 - 58,106,921	RGD
HuRef	18	58,086,417 - 58,087,825	UniSTS

stSG619397

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,386,403 - 61,387,628	UniSTS	GRCh37
Build 36	18	59,537,383 - 59,538,608	RGD	NCBI36
Celera	18	58,106,901 - 58,108,126	RGD
HuRef	18	58,087,805 - 58,089,030	UniSTS

stSG619398

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,387,609 - 61,388,971	UniSTS	GRCh37
GRCh37	18	61,387,609 - 61,388,919	UniSTS	GRCh37
Build 36	18	59,538,589 - 59,539,899	RGD	NCBI36
Celera	18	58,108,107 - 58,109,469	UniSTS
Celera	18	58,108,107 - 58,109,417	RGD
HuRef	18	58,089,011 - 58,090,373	UniSTS
HuRef	18	58,089,011 - 58,090,321	UniSTS

stSG619399

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,388,952 - 61,389,988	UniSTS	GRCh37
GRCh37	18	61,388,900 - 61,389,988	UniSTS	GRCh37
Build 36	18	59,539,880 - 59,540,968	RGD	NCBI36
Celera	18	58,109,450 - 58,110,486	UniSTS
Celera	18	58,109,398 - 58,110,486	RGD
HuRef	18	58,090,354 - 58,091,390	UniSTS
HuRef	18	58,090,302 - 58,091,390	UniSTS

stSG619400

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,389,969 - 61,391,439	UniSTS	GRCh37
GRCh37	18	61,389,969 - 61,391,364	UniSTS	GRCh37
Build 36	18	59,540,949 - 59,542,344	RGD	NCBI36
Celera	18	58,110,467 - 58,111,937	UniSTS
Celera	18	58,110,467 - 58,111,862	RGD
HuRef	18	58,091,371 - 58,092,838	UniSTS
HuRef	18	58,091,371 - 58,092,763	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											1
Medium				26			1			1	203	20	28
Low	38	4	15	39	4	5	41	11	16	19	259	126	35	1	2	13	1	1
Below cutoff	724	321	358	138	163	59	782	355	734	36	426	359	80		150	472	2

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_001291278	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001291279	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001370475	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001426565	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001426567	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_080475	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AC069356	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF419953	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF419954	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF419955	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK292775	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK296705	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK309537	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK309970	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY739645	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY792323	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY792324	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY792325	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY792326	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC069596	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC130370	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC130372	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471096	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068260	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DC365081	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DC383104	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KF459701	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

RefSeq Acc Id:

ENST00000382749 ⟹ ENSP00000421854

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	18	63,702,304 - 63,723,893 (+)	Ensembl

RefSeq Acc Id:

ENST00000467649

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	18	63,702,960 - 63,726,432 (+)	Ensembl

RefSeq Acc Id:

ENST00000489748 ⟹ ENSP00000480275

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	18	63,647,579 - 63,720,080 (+)	Ensembl

RefSeq Acc Id:

ENST00000536691 ⟹ ENSP00000441708

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	18	63,702,960 - 63,723,570 (+)	Ensembl

RefSeq Acc Id:

ENST00000544088 ⟹ ENSP00000441497

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	18	63,702,960 - 63,723,893 (+)	Ensembl

RefSeq Acc Id:

ENST00000610304

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	18	63,702,960 - 63,720,622 (+)	Ensembl

RefSeq Acc Id:

ENST00000613567

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	18	63,702,960 - 63,705,798 (+)	Ensembl

RefSeq Acc Id:

ENST00000623262 ⟹ ENSP00000485532

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	18	63,710,194 - 63,723,399 (+)	Ensembl

RefSeq Acc Id:

ENST00000624518 ⟹ ENSP00000485426

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	18	63,710,194 - 63,723,399 (+)	Ensembl

RefSeq Acc Id:

NM_001291278 ⟹ NP_001278207

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	18	63,702,960 - 63,723,893 (+)	NCBI
CHM1_1	18	61,366,367 - 61,387,304 (+)	NCBI
T2T-CHM13v2.0	18	63,908,033 - 63,928,969 (+)	NCBI

Sequence:

show sequence

AGTCTAACTTGCCACTCTGTGAACTTCACTACTGGAAAGCAACAAAGGCAGTCGGCATAAAAAT
GGGTTCTCTCAGCACAGCTAACGTTGAATTTTGCCTTGATGTGTTCAAAGAGCTGAACAGTAAC
AACATAGGAGATAACATCTTCTTTTCTTCGCTGAGTCTGCTTTATGCTCTAAGCATGGTCCTCC
TTGGTGCCAGGGGAGAGACTGAAGAGCAATTGGAGAAGGTGCTTCATTTTAGTCATACTGTAGA
CTCATTAAAACCAGGGTTCAAGGACTCACCTAAGTGCAGCCAAGCTGGAAGAATTCATTCCGAG
TTTGGTGTCGAATTCTCTCAAATCAACCAGCCAGACTCTAACTGTACCCTCAGCATTGCCAACA
GGCTCTACGGGACAAAGACGATGGCATTTCATCAGGGTAAAAATGTAACTGTGGAAATGATGTA
TCAAATTGGAACATTTAAACTGGCCTTTGTAAAGGAGCCGCAGATGCAAGTTCTTGAGCTGCCC
TACGTTAACAACAAATTAAGCATGATTATTCTGCTTCCAGTAGGCATAGCTAATCTGAAACAGA
TAGAAAAGCAGCTGAATTCGGGGACGTTTCATGAGTGGACAAGCTCTTCTAACATGATGGAAAG
AGAAGTTGAAGTACACCTCCCCCGATTCAAACTTGAAACTAAGTATGAGCTAAATTCCCTGTTA
AAATCTCTAGGGGTGACAGATCTCTTCAACCAGGTCAAAGCTGATCTTTCTGGAATGTCACCAA
CCAAGGGCCTATATTTATCAAAAGCCATCCACAAGTCATACCTGGATGTCAGCGAAGAGGGCAC
GGAGGCAGCAGCAGCCACTGGGGACAGCATCGCTGTAAAAAGCCTACCAATGAGAGCTCAGTTC
AAGGCGAACCACCCCTTCCTTTTCTTTATAAGGCACACTCATACCAACACGATCCTATTCTGTG
GCAAGCTTGCCTCTCCCTAATCAGATGGGGTTGAGCAAGGCTCAGAGTTGCAGATGAGGTGCAG
AGACAATCCTGTGACTTTCCCACGGCCAAAAAGCTGTTCACACCTCACACACCTCTGTGCCTCA
GTTTGCTCATCTGCAAAATAGGTCTAGGATTTCTTCCAACCATTTCATGAGTTGTGAAGCTAAG
GCTTTGTTAATCATGGAAAAAGGTAGATTTATGCAGAAAGCCTTTCTGGCTTTCTTATCTGTGG
TGTCTCATTTGAGTGCTGTCCAGTGACATGATCAAGTCAATGAGTAAAATTTTAAGGGATTAGA
TTTTCTTGACTTGTATGTATCTGTGAGATCTTGAATAAGTGACCTGACATCTCTGCTTAAAGAA
AACCAGCTGAAGGGCTTCAACTTTGCTTGGATTTTTAAATATTTTCCTTGCATATGTAAATAGA
ATGTGGTGAGTTTTAGTTCAAAATTCTCTGTTGAGAATAATAAATGCATGAAATACCTTAAAGC
TC

hide sequence

RefSeq Acc Id:

NM_001291279 ⟹ NP_001278208

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	18	63,702,960 - 63,723,893 (+)	NCBI
CHM1_1	18	61,366,367 - 61,387,304 (+)	NCBI
T2T-CHM13v2.0	18	63,908,033 - 63,928,969 (+)	NCBI

Sequence:

show sequence

AGTCTAACTTGCCACTCTGTGAACTTCACTACTGGAAAGCAACAAAGGCAGTCGGCATAAAAAT
GGGTTCTCTCAGCACAGCTAACGTTGAATTTTGCCTTGATGTGTTCAAAGAGCTGAACAGTAAC
AACATAGGAGATAACATCTTCTTTTCTTCGCTGAGTCTGCTTTATGCTCTAAGCATGGTCCTCC
TTGGTGCCAGGGGAGAGACTGAAGAGCAATTGGAGAAGGTGCTTCATTTTAGTCATACTGTAGA
CTCATTAAAACCAGGGTTCAAGGACTCACCTAAGTGCAGCCAAGCTGGAAGAATTCATTCCGAG
TTTGGTGTCGAATTCTCTCAAATCAACCAGCCAGACTCTAACTGTACCCTCAGCATTGCCAACA
GGCTCTACGGGACAAAGACGATGGCATTTCATCAGGAAAAGTCGCAAATCTCTTTGGAAAGAGC
ACAATTGACCCTTCATCTGTAATGGTCCTGGTGAATGCCATATATTTCAAAGGACAATGGCAAA
ATAAATTTCAAGTAAGAGAGACAGTTAAAAGTCCTTTTCAGCTAAGTGAGGGTAAAAATGTAAC
TGTGGAAATGATGTATCAAATTGGAACATTTAAACTGGCCTTTGTAAAGGAGCCGCAGATGCAA
GTTCTTGAGCTGCCCTACGTTAACAACAAATTAAGCATGATTATTCTGCTTCCAGTAGGCATAG
CTAATCTGAAACAGATAGAAAAGCAGCTGAATTCGGGGACGTTTCATGAGTGGACAAGCTCTTC
TAACATGATGGAAAGAGAAGTTGAAGTACACCTCCCCCGATTCAAACTTGAAACTAAGTATGAG
CTAAATTCCCTGTTAAAATCTCTAGGGGTGACAGATCTCTTCAACCAGGTCAAAGCTGATCTTT
CTGGAATGTCACCAACCAAGGGCCTATATTTATCAAAAGCCATCCACAAGTCATACCTGGATGT
CAGCGAAGAGGGCACGGAGGCAGCAGCAGCCACTGGGGACAGCATCGCTGTAAAAAGCCTACCA
ATGAGAGCTCAGTTCAAGGCGAACCACCCCTTCCTTTTCTTTATAAGGCACACTCATACCAACA
CGATCCTATTCTGTGGCAAGCTTGCCTCTCCCTAATCAGATGGGGTTGAGCAAGGCTCAGAGTT
GCAGATGAGGTGCAGAGACAATCCTGTGACTTTCCCACGGCCAAAAAGCTGTTCACACCTCACA
CACCTCTGTGCCTCAGTTTGCTCATCTGCAAAATAGGTCTAGGATTTCTTCCAACCATTTCATG
AGTTGTGAAGCTAAGGCTTTGTTAATCATGGAAAAAGGTAGATTTATGCAGAAAGCCTTTCTGG
CTTTCTTATCTGTGGTGTCTCATTTGAGTGCTGTCCAGTGACATGATCAAGTCAATGAGTAAAA
TTTTAAGGGATTAGATTTTCTTGACTTGTATGTATCTGTGAGATCTTGAATAAGTGACCTGACA
TCTCTGCTTAAAGAAAACCAGCTGAAGGGCTTCAACTTTGCTTGGATTTTTAAATATTTTCCTT
GCATATGTAAATAGAATGTGGTGAGTTTTAGTTCAAAATTCTCTGTTGAGAATAATAAATGCAT
GAAATACCTTAAAGCTC

hide sequence

RefSeq Acc Id:

NM_001370475 ⟹ NP_001357404

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	18	63,702,960 - 63,723,893 (+)	NCBI
T2T-CHM13v2.0	18	63,908,033 - 63,928,969 (+)	NCBI

Sequence:

show sequence

AGTCTAACTTGCCACTCTGTGAACTTCACTACTGGAAAGCAACAAAGGCAGTCGGCATAAAAAT
GGGTTCTCTCAGCACAGCTAACGTTGAATTTTGCCTTGATGTGTTCAAAGAGCTGAACAGTAAC
AACATAGGAGATAACATCTTCTTTTCTTCGCTGAGTCTGCTTTATGCTCTAAGCATGGTCCTCC
TTGGTGCCAGGGGAGAGACTGAAGAGCAATTGGAGAAGGTGCTTCATTTTAGTCATACTGTAGA
CTCATTAAAACCAGGGTTCAAGGACTCACCTAAGTGCAGCCAAGCTGGAAGAATTCATTCCGAG
TTTGGTGTCGAATTCTCTCAAATCAACCAGCCAGACTCTAACTGTACCCTCAGCATTGCCAACA
GGCTCTACGGGACAAAGACGATGGCATTTCATCAGCAATATTTAAGCTGTTCTGAGAAATGGTA
TCAAGCCAGGTTGCAAACTGTGGATTTTGAACAGTCTACAGAAGAAACGAGGAAAACGATTAAT
GCTTGGGTTGAAAATAAAACTAATGGAAAAGTCGCAAATCTCTTTGGAAAGAGCACAATTGACC
CTTCATCTGTAATGGTCCTGGTGAATGCCATATATTTCAAAGGACAATGGCAAAATAAATTTCA
AGTAAGAGAGACAGTTAAAAGTCCTTTTCAGCTAAGTGAGGGTAAAAATGTAACTGTGGAAATG
ATGTATCAAATTGGAACATTTAAACTGGCCTTTGTAAAGGAGCCGCAGATGCAAGTTCTTGAGC
TGCCCTACGTTAACAACAAATTAAGCATGATTATTCTGCTTCCAGTAGGCATAGCTAATCTGAA
ACAGATAGAAAAGCAGCTGAATTCGGGGACGTTTCATGAGTGGACAAGCTCTTCTAACATGATG
GAAAGAGAAGTTGAAGTACACCTCCCCCGATTCAAACTTGAAACTAAGTATGAGCTAAATTCCC
TGTTAAAATCTCTAGGGGTGACAGATCTCTTCAACCAGGTCAAAGCTGATCTTTCTGGAATGTC
ACCAACCAAGGGCCTATATTTATCAAAAGCCATCCACAAGTCATACCTGGATGTCAGCGAAGAG
GGCACGGAGGCAGCAGCAGCCACTGGGGACAGCATCGCTGTAAAAAGCCTACCAATGAGAGCTC
AGTTCAAGGCGAACCACCCCTTCCTTTTCTTTATAAGGCACACTCATACCAACACGATCCTATT
CTGTGGCAAGCTTGCCTCTCCCTAATCAGATGGGGTTGAGCAAGGCTCAGAGTTGCAGATGAGG
TGCAGAGACAATCCTGTGACTTTCCCACGGCCAAAAAGCTGTTCACACCTCACACACCTCTGTG
CCTCAGTTTGCTCATCTGCAAAATAGGTCTAGGATTTCTTCCAACCATTTCATGAGTTGTGAAG
CTAAGGCTTTGTTAATCATGGAAAAAGGTAGATTTATGCAGAAAGCCTTTCTGGCTTTCTTATC
TGTGGTGTCTCATTTGAGTGCTGTCCAGTGACATGATCAAGTCAATGAGTAAAATTTTAAGGGA
TTAGATTTTCTTGACTTGTATGTATCTGTGAGATCTTGAATAAGTGACCTGACATCTCTGCTTA
AAGAAAACCAGCTGAAGGGCTTCAACTTTGCTTGGATTTTTAAATATTTTCCTTGCATATGTAA
ATAGAATGTGGTGAGTTTTAGTTCAAAATTCTCTGTTGAGAATAATAAATGCATGAAATACCTT
AAAGCTC

hide sequence

RefSeq Acc Id:

NM_080475 ⟹ NP_536723

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	18	63,702,304 - 63,723,893 (+)	NCBI
GRCh37	18	61,370,194 - 61,391,123 (+)	RGD
Build 36	18	59,521,174 - 59,542,103 (+)	NCBI Archive
Celera	18	58,090,689 - 58,111,621 (+)	RGD
HuRef	18	58,071,139 - 58,092,525 (+)	RGD
CHM1_1	18	61,365,712 - 61,387,304 (+)	NCBI
T2T-CHM13v2.0	18	63,907,377 - 63,928,969 (+)	NCBI

Sequence:

show sequence

GGTGCAGGGCCGGGCATGGTCGTTCACGCCTGTAATCCCAGCACTTTAGGAGGCTGAGGCAGGT
GGATCACGAGGGCTGTACTTTCCAACCAGCAGGTGAAGAGCTGAATCACTAAGGGCACAAATGA
AAAGGGAGGGGCAAAATATGAAGGCTTTATATTTCCTTTTGAGGGACGCAGCTCCAGTCTAACT
TGCCACTCTGTGAACTTCACTACTGGAAAGCAACAAAGGCAGTCGGCATAAAAATGGGTTCTCT
CAGCACAGCTAACGTTGAATTTTGCCTTGATGTGTTCAAAGAGCTGAACAGTAACAACATAGGA
GATAACATCTTCTTTTCTTCGCTGAGTCTGCTTTATGCTCTAAGCATGGTCCTCCTTGGTGCCA
GGGGAGAGACTGAAGAGCAATTGGAGAAGGTGCTTCATTTTAGTCATACTGTAGACTCATTAAA
ACCAGGGTTCAAGGACTCACCTAAGTGCAGCCAAGCTGGAAGAATTCATTCCGAGTTTGGTGTC
GAATTCTCTCAAATCAACCAGCCAGACTCTAACTGTACCCTCAGCATTGCCAACAGGCTCTACG
GGACAAAGACGATGGCATTTCATCAGCAATATTTAAGCTGTTCTGAGAAATGGTATCAAGCCAG
GTTGCAAACTGTGGATTTTGAACAGTCTACAGAAGAAACGAGGAAAACGATTAATGCTTGGGTT
GAAAATAAAACTAATGGAAAAGTCGCAAATCTCTTTGGAAAGAGCACAATTGACCCTTCATCTG
TAATGGTCCTGGTGAATGCCATATATTTCAAAGGACAATGGCAAAATAAATTTCAAGTAAGAGA
GACAGTTAAAAGTCCTTTTCAGCTAAGTGAGGGTAAAAATGTAACTGTGGAAATGATGTATCAA
ATTGGAACATTTAAACTGGCCTTTGTAAAGGAGCCGCAGATGCAAGTTCTTGAGCTGCCCTACG
TTAACAACAAATTAAGCATGATTATTCTGCTTCCAGTAGGCATAGCTAATCTGAAACAGATAGA
AAAGCAGCTGAATTCGGGGACGTTTCATGAGTGGACAAGCTCTTCTAACATGATGGAAAGAGAA
GTTGAAGTACACCTCCCCCGATTCAAACTTGAAACTAAGTATGAGCTAAATTCCCTGTTAAAAT
CTCTAGGGGTGACAGATCTCTTCAACCAGGTCAAAGCTGATCTTTCTGGAATGTCACCAACCAA
GGGCCTATATTTATCAAAAGCCATCCACAAGTCATACCTGGATGTCAGCGAAGAGGGCACGGAG
GCAGCAGCAGCCACTGGGGACAGCATCGCTGTAAAAAGCCTACCAATGAGAGCTCAGTTCAAGG
CGAACCACCCCTTCCTTTTCTTTATAAGGCACACTCATACCAACACGATCCTATTCTGTGGCAA
GCTTGCCTCTCCCTAATCAGATGGGGTTGAGCAAGGCTCAGAGTTGCAGATGAGGTGCAGAGAC
AATCCTGTGACTTTCCCACGGCCAAAAAGCTGTTCACACCTCACACACCTCTGTGCCTCAGTTT
GCTCATCTGCAAAATAGGTCTAGGATTTCTTCCAACCATTTCATGAGTTGTGAAGCTAAGGCTT
TGTTAATCATGGAAAAAGGTAGATTTATGCAGAAAGCCTTTCTGGCTTTCTTATCTGTGGTGTC
TCATTTGAGTGCTGTCCAGTGACATGATCAAGTCAATGAGTAAAATTTTAAGGGATTAGATTTT
CTTGACTTGTATGTATCTGTGAGATCTTGAATAAGTGACCTGACATCTCTGCTTAAAGAAAACC
AGCTGAAGGGCTTCAACTTTGCTTGGATTTTTAAATATTTTCCTTGCATATGTAAATAGAATGT
GGTGAGTTTTAGTTCAAAATTCTCTGTTGAGAATAATAAATGCATGAAATACCTTAAAGCTC

hide sequence

Protein Sequences


Protein RefSeqs	NP_001278207	(Get FASTA)	NCBI Sequence Viewer
	NP_001278208	(Get FASTA)	NCBI Sequence Viewer
	NP_001357404	(Get FASTA)	NCBI Sequence Viewer
	NP_001413494	(Get FASTA)	NCBI Sequence Viewer
	NP_001413496	(Get FASTA)	NCBI Sequence Viewer
	NP_536723	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAH69596	(Get FASTA)	NCBI Sequence Viewer
	AAL16056	(Get FASTA)	NCBI Sequence Viewer
	AAL16057	(Get FASTA)	NCBI Sequence Viewer
	AAL16058	(Get FASTA)	NCBI Sequence Viewer
	AAU81932	(Get FASTA)	NCBI Sequence Viewer
	AAV73920	(Get FASTA)	NCBI Sequence Viewer
	AAV73921	(Get FASTA)	NCBI Sequence Viewer
	AAV73922	(Get FASTA)	NCBI Sequence Viewer
	AAV73923	(Get FASTA)	NCBI Sequence Viewer
	BAF85464	(Get FASTA)	NCBI Sequence Viewer
	BAG59299	(Get FASTA)	NCBI Sequence Viewer
	EAW63158	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000421854
	ENSP00000421854.1
	ENSP00000441497
	ENSP00000441497.1
	ENSP00000441708.2
	ENSP00000480275.1
	ENSP00000485426.1
	ENSP00000485532
	ENSP00000485532.1
GenBank Protein	Q96P15	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_536723 ⟸ NM_080475
- Peptide Label:	isoform a
- UniProtKB:	Q96P14 (UniProtKB/Swiss-Prot), Q96P13 (UniProtKB/Swiss-Prot), Q6ISD3 (UniProtKB/Swiss-Prot), Q5Q123 (UniProtKB/Swiss-Prot), Q5Q122 (UniProtKB/Swiss-Prot), Q5Q121 (UniProtKB/Swiss-Prot), Q5Q120 (UniProtKB/Swiss-Prot), A8K9R0 (UniProtKB/Swiss-Prot), Q96P15 (UniProtKB/Swiss-Prot), A9UKE9 (UniProtKB/TrEMBL), F5GYW9 (UniProtKB/TrEMBL)
- Sequence:	show sequence MGSLSTANVEFCLDVFKELNSNNIGDNIFFSSLSLLYALSMVLLGARGETEEQLEKVLHFSHTV DSLKPGFKDSPKCSQAGRIHSEFGVEFSQINQPDSNCTLSIANRLYGTKTMAFHQQYLSCSEKW YQARLQTVDFEQSTEETRKTINAWVENKTNGKVANLFGKSTIDPSSVMVLVNAIYFKGQWQNKF QVRETVKSPFQLSEGKNVTVEMMYQIGTFKLAFVKEPQMQVLELPYVNNKLSMIILLPVGIANL KQIEKQLNSGTFHEWTSSSNMMEREVEVHLPRFKLETKYELNSLLKSLGVTDLFNQVKADLSGM SPTKGLYLSKAIHKSYLDVSEEGTEAAAATGDSIAVKSLPMRAQFKANHPFLFFIRHTHTNTIL FCGKLASP hide sequence

RefSeq Acc Id:	NP_001278208 ⟸ NM_001291279
- Peptide Label:	isoform c
- UniProtKB:	B4DKT7 (UniProtKB/TrEMBL)
- Sequence:	show sequence MVLVNAIYFKGQWQNKFQVRETVKSPFQLSEGKNVTVEMMYQIGTFKLAFVKEPQMQVLELPYV NNKLSMIILLPVGIANLKQIEKQLNSGTFHEWTSSSNMMEREVEVHLPRFKLETKYELNSLLKS LGVTDLFNQVKADLSGMSPTKGLYLSKAIHKSYLDVSEEGTEAAAATGDSIAVKSLPMRAQFKA NHPFLFFIRHTHTNTILFCGKLASP hide sequence

RefSeq Acc Id:	NP_001278207 ⟸ NM_001291278
- Peptide Label:	isoform b
- UniProtKB:	A0A096LPD5 (UniProtKB/TrEMBL)
- Sequence:	show sequence MGSLSTANVEFCLDVFKELNSNNIGDNIFFSSLSLLYALSMVLLGARGETEEQLEKVLHFSHTV DSLKPGFKDSPKCSQAGRIHSEFGVEFSQINQPDSNCTLSIANRLYGTKTMAFHQGKNVTVEMM YQIGTFKLAFVKEPQMQVLELPYVNNKLSMIILLPVGIANLKQIEKQLNSGTFHEWTSSSNMME REVEVHLPRFKLETKYELNSLLKSLGVTDLFNQVKADLSGMSPTKGLYLSKAIHKSYLDVSEEG TEAAAATGDSIAVKSLPMRAQFKANHPFLFFIRHTHTNTILFCGKLASP hide sequence

RefSeq Acc Id:	NP_001357404 ⟸ NM_001370475
- Peptide Label:	isoform a
- UniProtKB:	Q96P15 (UniProtKB/Swiss-Prot), Q96P14 (UniProtKB/Swiss-Prot), Q96P13 (UniProtKB/Swiss-Prot), Q6ISD3 (UniProtKB/Swiss-Prot), Q5Q123 (UniProtKB/Swiss-Prot), Q5Q122 (UniProtKB/Swiss-Prot), Q5Q121 (UniProtKB/Swiss-Prot), Q5Q120 (UniProtKB/Swiss-Prot), A8K9R0 (UniProtKB/Swiss-Prot), F5GYW9 (UniProtKB/TrEMBL), A9UKE9 (UniProtKB/TrEMBL)

RefSeq Acc Id:

ENSP00000441497 ⟸ ENST00000544088

RefSeq Acc Id:

ENSP00000485532 ⟸ ENST00000623262

RefSeq Acc Id:

ENSP00000485426 ⟸ ENST00000624518

RefSeq Acc Id:

ENSP00000441708 ⟸ ENST00000536691

RefSeq Acc Id:

ENSP00000480275 ⟸ ENST00000489748

RefSeq Acc Id:

ENSP00000421854 ⟸ ENST00000382749

Protein Domains

SERPIN

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q96P15-F1-model_v2	AlphaFold	Q96P15	1-392	view protein structure

Promoters

RGD ID:

7237515

Promoter ID:

EPDNEW_H24503

Type:

multiple initiation site

Name:

SERPINB11_1

Description:

serpin family B member 11 (gene/pseudogene)

SO ACC ID:

SO:0000170

Source:

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

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	18	63,702,960 - 63,703,020	EPDNEW

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:14221	AgrOrtholog
COSMIC	SERPINB11	COSMIC
Ensembl Genes	ENSG00000206072	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript	ENST00000382749	ENTREZGENE
	ENST00000382749.9	UniProtKB/Swiss-Prot
	ENST00000489748.5	UniProtKB/TrEMBL
	ENST00000536691.5	UniProtKB/TrEMBL
	ENST00000544088	ENTREZGENE
	ENST00000544088.6	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	ENST00000623262	ENTREZGENE
	ENST00000623262.3	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	ENST00000624518.1	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Gene3D-CATH	2.30.39.10	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	3.30.497.10	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	6.20.40.10	UniProtKB/TrEMBL
	Helix hairpin bin	UniProtKB/TrEMBL
GTEx	ENSG00000206072	GTEx
HGNC ID	HGNC:14221	ENTREZGENE
Human Proteome Map	SERPINB11	Human Proteome Map
InterPro	Serpin_CS	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Serpin_dom	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Serpin_fam	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Serpin_sf	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Serpin_sf_1	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Serpin_sf_2	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	hsa:89778	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene	89778	ENTREZGENE
OMIM	615682	OMIM
PANTHER	PTHR11461	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	SERPIN B11	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam	Serpin	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA37860	PharmGKB
PROSITE	SERPIN	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART	SERPIN	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP	SSF56574	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt	A0A087WWJ8_HUMAN	UniProtKB/TrEMBL
	A0A096LP68_HUMAN	UniProtKB/TrEMBL
	A0A096LPD5	ENTREZGENE, UniProtKB/TrEMBL
	A8K9R0	ENTREZGENE
	A9UKE9	ENTREZGENE, UniProtKB/TrEMBL
	B4DKT7	ENTREZGENE, UniProtKB/TrEMBL
	F5GWT8_HUMAN	UniProtKB/TrEMBL
	F5GYW9	ENTREZGENE, UniProtKB/TrEMBL
	Q5Q120	ENTREZGENE
	Q5Q121	ENTREZGENE
	Q5Q122	ENTREZGENE
	Q5Q123	ENTREZGENE
	Q6ISD3	ENTREZGENE
	Q96P13	ENTREZGENE
	Q96P14	ENTREZGENE
	Q96P15	ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary	A8K9R0	UniProtKB/Swiss-Prot
	Q5Q120	UniProtKB/Swiss-Prot
	Q5Q121	UniProtKB/Swiss-Prot
	Q5Q122	UniProtKB/Swiss-Prot
	Q5Q123	UniProtKB/Swiss-Prot
	Q6ISD3	UniProtKB/Swiss-Prot
	Q96P13	UniProtKB/Swiss-Prot
	Q96P14	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2020-05-11	SERPINB11	serpin family B member 11	SERPINB11	serpin family B member 11 (gene/pseudogene)	Symbol and/or name change	19259463	PROVISIONAL
2016-04-12	SERPINB11	serpin family B member 11 (gene/pseudogene)		serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene)	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)

Send us a Message

Imported Disease Annotations - ClinVar