SHISA8 (shisa family member 8) - Rat Genome Database

Name: SHISA8
Creator: Rat Genome Database
License: Creative Commons CC BY 4.0
Keywords: Rat Gene RGD Genome

Gene: SHISA8 (shisa family member 8) Homo sapiens

Analyze

Symbol:

SHISA8

Name:

shisa family member 8

RGD ID:

1345156

HGNC Page

HGNC:18351

Description:

Predicted to be involved in regulation of short-term neuronal synaptic plasticity. Predicted to be located in membrane. Predicted to be part of AMPA glutamate receptor complex. Predicted to be active in dendritic spine membrane; postsynaptic density; and postsynaptic membrane.

Type:

protein-coding

RefSeq Status:

VALIDATED

Previously known as:

C22orf17; CTA-250D10.17; Orf26; putative protein shisa-8; shisa homolog 8; shisa homolog 8 (Xenopus laevis); transmembrane protein 46-like

RGD Orthologs

Alliance Orthologs

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):	Shisa8 (shisa family member 8)	HGNC	EggNOG, Ensembl, HGNC, HomoloGene, NCBI, OMA, OrthoDB, Panther
Rattus norvegicus (Norway rat):	Shisa8 (shisa family member 8)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, Panther
Chinchilla lanigera (long-tailed chinchilla):	Shisa8 (shisa family member 8)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	SHISA8 (shisa family member 8)	NCBI	Ortholog
Canis lupus familiaris (dog):	SHISA8 (shisa family member 8)	HGNC	HomoloGene, NCBI, OrthoDB
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Shisa8 (shisa family member 8)	NCBI	Ortholog
Sus scrofa (pig):	SHISA8 (shisa family member 8)	HGNC	Ensembl, NCBI, OrthoDB
Chlorocebus sabaeus (green monkey):	SHISA8 (shisa family member 8)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Shisa8 (shisa family member 8)	NCBI	Ortholog
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Shisa8 (shisa family member 8)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Mus musculus (house mouse):	Shisa8 (shisa family member 8)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Danio rerio (zebrafish):	shisa8b (shisa family member 8b)	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|OMA\|OrthoFinder\|PANTHER\|PhylomeDB\|ZFIN)

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	22	41,909,543 - 41,915,074 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	22	41,909,543 - 41,915,074 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	22	42,305,547 - 42,311,078 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	22	40,635,715 - 40,640,617 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	22	26,112,003 - 26,116,905 (-)	NCBI		Celera
Cytogenetic Map	22	q13.2	NCBI
HuRef	22	25,271,257 - 25,276,248 (-)	NCBI		HuRef
CHM1_1	22	42,265,766 - 42,270,869 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	22	42,388,416 - 42,393,946 (-)	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

adenylosuccinase lyase deficiency (IAGP)

common variable immunodeficiency 4 (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

(-)-demecolcine (EXP)

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

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

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

3,7-dihydropurine-6-thione (ISO)

4,4'-sulfonyldiphenol (ISO)

6-propyl-2-thiouracil (ISO)

acrylamide (ISO)

benzo[a]pyrene (ISO)

bisphenol A (ISO)

bisphenol F (ISO)

chlordecone (ISO)

dibutyl phthalate (ISO)

fenvalerate (ISO)

manganese(II) chloride (ISO)

mercaptopurine (ISO)

methyl methanesulfonate (EXP)

ozone (ISO)

purine-6-thiol (ISO)

sodium arsenite (ISO)

titanium dioxide (ISO)

trichloroethene (ISO)

triclosan (EXP)

triptonide (ISO)

vincristine (EXP)

XL147 (ISO)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

regulation of short-term neuronal synaptic plasticity (IBA)

Cellular Component

AMPA glutamate receptor complex (IBA)

dendritic spine membrane (IBA)

membrane (IEA)

postsynaptic density (IBA)

postsynaptic membrane (IBA)

References

References - curated

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

Additional References at PubMed

PMID:21873635	PMID:25056061	PMID:32877691	PMID:32918875

Genomics

Comparative Map Data

SHISA8
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	22	41,909,543 - 41,915,074 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	22	41,909,543 - 41,915,074 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	22	42,305,547 - 42,311,078 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	22	40,635,715 - 40,640,617 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	22	26,112,003 - 26,116,905 (-)	NCBI		Celera
Cytogenetic Map	22	q13.2	NCBI
HuRef	22	25,271,257 - 25,276,248 (-)	NCBI		HuRef
CHM1_1	22	42,265,766 - 42,270,869 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	22	42,388,416 - 42,393,946 (-)	NCBI		T2T-CHM13v2.0

Shisa8
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	15	82,091,153 - 82,097,004 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	15	82,090,369 - 82,097,016 (-)	Ensembl		GRCm39 Ensembl
GRCm38	15	82,206,173 - 82,212,848 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	15	82,206,168 - 82,212,815 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	15	82,037,382 - 82,052,260 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	15	82,034,207 - 82,049,085 (-)	NCBI		MGSCv36	mm8
Celera	15	84,330,672 - 84,336,537 (-)	NCBI		Celera
Cytogenetic Map	15	E1	NCBI

Shisa8
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	7	115,602,503 - 115,607,953 (-)	NCBI		GRCr8
mRatBN7.2	7	113,722,408 - 113,727,858 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	7	113,722,408 - 113,727,858 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	7	115,478,377 - 115,483,827 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	7	117,701,884 - 117,707,334 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	7	117,671,325 - 117,676,775 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	7	123,440,163 - 123,445,613 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	7	123,440,163 - 123,445,613 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	7	123,423,854 - 123,429,304 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	7	120,581,770 - 120,595,508 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
Celera	7	110,037,571 - 110,043,021 (-)	NCBI		Celera
Cytogenetic Map	7	q34	NCBI

Shisa8
(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	NW_004955413	27,328,632 - 27,330,304 (-)	NCBI	ChiLan1.0	ChiLan1.0

SHISA8
(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	23	51,739,276 - 51,744,426 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	22	54,438,476 - 54,443,664 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	22	22,802,111 - 22,807,652 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	22	40,887,263 - 40,889,441 (-)	NCBI	panpan1.1	PanPan1.1	panPan2

SHISA8
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	10	23,444,051 - 23,448,692 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
Dog10K_Boxer_Tasha	10	23,376,889 - 23,382,774 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	10	24,187,797 - 24,193,682 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	10	24,188,891 - 24,193,887 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	10	23,904,791 - 23,910,675 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	10	24,226,041 - 24,232,175 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	10	24,400,174 - 24,406,059 (+)	NCBI		UU_Cfam_GSD_1.0

Shisa8
(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_024404945	7,098,337 - 7,103,351 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936492	108,750 - 113,781 (+)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936492	108,751 - 113,765 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

SHISA8
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	5	6,711,336 - 6,717,365 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	5	6,711,089 - 6,716,644 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1

SHISA8
(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	19	24,441,962 - 24,447,204 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
Vero_WHO_p1.0	NW_023666045	100,964,732 - 100,970,285 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Shisa8
(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_004624752	6,808,295 - 6,813,216 (+)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624752	6,808,295 - 6,813,039 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in SHISA8
32 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 22q12.3-13.33(chr22:33768441-50739977)x3	copy number gain	See cases [RCV000051682]	Chr22:33768441..50739977 [GRCh38] Chr22:34164428..51178405 [GRCh37] Chr22:32494428..49525271 [NCBI36] Chr22:22q12.3-13.33	pathogenic
GRCh38/hg38 22q12.3-13.33(chr22:37061769-50738932)x3	copy number gain	See cases [RCV000051684]	Chr22:37061769..50738932 [GRCh38] Chr22:37457809..51177360 [GRCh37] Chr22:35787755..49524226 [NCBI36] Chr22:22q12.3-13.33	pathogenic
GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3	copy number gain	See cases [RCV000133646]	Chr22:16916608..50739836 [GRCh38] Chr22:17397498..51178264 [GRCh37] Chr22:15777498..49525130 [NCBI36] Chr22:22q11.1-13.33	pathogenic
GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	copy number gain	See cases [RCV000134730]	Chr22:16916743..50739785 [GRCh38] Chr22:17397633..51178213 [GRCh37] Chr22:15777633..49525079 [NCBI36] Chr22:22q11.1-13.33	pathogenic
GRCh38/hg38 22q13.1-13.33(chr22:40202014-50735806)x3	copy number gain	See cases [RCV000134513]	Chr22:40202014..50735806 [GRCh38] Chr22:40598018..51174234 [GRCh37] Chr22:38927964..49521100 [NCBI36] Chr22:22q13.1-13.33	pathogenic
GRCh38/hg38 22q13.2(chr22:41645339-42565798)x1	copy number loss	See cases [RCV000136528]	Chr22:41645339..42565798 [GRCh38] Chr22:42041343..42961804 [GRCh37] Chr22:40371289..41291748 [NCBI36] Chr22:22q13.2	uncertain significance
GRCh38/hg38 22q13.2-13.33(chr22:41871143-50739836)x1	copy number loss	See cases [RCV000136921]	Chr22:41871143..50739836 [GRCh38] Chr22:42267147..51178264 [GRCh37] Chr22:40597093..49525130 [NCBI36] Chr22:22q13.2-13.33	pathogenic
GRCh38/hg38 22q13.2(chr22:41277822-42414957)x3	copy number gain	See cases [RCV000136785]	Chr22:41277822..42414957 [GRCh38] Chr22:41673826..42810963 [GRCh37] Chr22:40003772..41140907 [NCBI36] Chr22:22q13.2	pathogenic
GRCh38/hg38 22q13.2(chr22:41764466-41998153)x3	copy number gain	See cases [RCV000142720]	Chr22:41764466..41998153 [GRCh38] Chr22:42160470..42394157 [GRCh37] Chr22:40490416..40724103 [NCBI36] Chr22:22q13.2	uncertain significance
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3	copy number gain	See cases [RCV000240091]	Chr22:16054691..51237518 [GRCh37] Chr22:22q11.1-13.33	pathogenic
GRCh37/hg19 22q13.2(chr22:42207144-42776457)x1	copy number loss	See cases [RCV000240146]	Chr22:42207144..42776457 [GRCh37] Chr22:22q13.2	uncertain significance
GRCh37/hg19 22q12.3-13.33(chr22:35728929-51220961)x3	copy number gain	See cases [RCV000240469]	Chr22:35728929..51220961 [GRCh37] Chr22:22q12.3-13.33	pathogenic
GRCh37/hg19 22q13.1-13.33(chr22:40425714-51220961)x3	copy number gain	See cases [RCV000240459]	Chr22:40425714..51220961 [GRCh37] Chr22:22q13.1-13.33	pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51220902)x3	copy number gain	See cases [RCV000446956]	Chr22:16054691..51220902 [GRCh37] Chr22:22q11.1-13.33	pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3	copy number gain	See cases [RCV000448847]	Chr22:16054691..51237463 [GRCh37] Chr22:22q11.1-13.33	pathogenic
GRCh37/hg19 22q13.2(chr22:41835094-42756616)x3	copy number gain	See cases [RCV000511241]	Chr22:41835094..42756616 [GRCh37] Chr22:22q13.2	uncertain significance
GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)	copy number gain	See cases [RCV000510873]	Chr22:16888900..51197838 [GRCh37] Chr22:22q11.1-13.33	pathogenic
NM_001207020.3(SHISA8):c.971C>T (p.Pro324Leu)	single nucleotide variant	not specified [RCV004290490]	Chr22:41909988 [GRCh38] Chr22:42305992 [GRCh37] Chr22:22q13.2	uncertain significance
GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)x3	copy number gain	See cases [RCV000512333]	Chr22:16888900..51197838 [GRCh37] Chr22:22q11.1-13.33	pathogenic
NC_000022.11:g.(?_41301335)_(42070317_?)del	deletion	Immunodeficiency, common variable, 4 [RCV000648330]	Chr22:41301335..42070317 [GRCh38] Chr22:41697339..42466321 [GRCh37] Chr22:22q13.2	uncertain significance
GRCh37/hg19 22q13.2(chr22:41849322-42756616)x3	copy number gain	not provided [RCV000684486]	Chr22:41849322..42756616 [GRCh37] Chr22:22q13.2	likely pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054667-51243435)x3	copy number gain	not provided [RCV000741689]	Chr22:16054667..51243435 [GRCh37] Chr22:22q11.1-13.33	pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16114244-51195728)x3	copy number gain	not provided [RCV000741691]	Chr22:16114244..51195728 [GRCh37] Chr22:22q11.1-13.33	pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:42151555-51195728)x1	copy number loss	not provided [RCV000741989]	Chr22:42151555..51195728 [GRCh37] Chr22:22q13.2-13.33	pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16114244-51211392)x3	copy number gain	not provided [RCV000741692]	Chr22:16114244..51211392 [GRCh37] Chr22:22q11.1-13.33	pathogenic
NM_001207020.3(SHISA8):c.1132G>C (p.Gly378Arg)	single nucleotide variant	not specified [RCV004315689]	Chr22:41909827 [GRCh38] Chr22:42305831 [GRCh37] Chr22:22q13.2	likely benign
GRCh37/hg19 22q13.1-13.33(chr22:40502364-51197838)x3	copy number gain	not provided [RCV001007502]	Chr22:40502364..51197838 [GRCh37] Chr22:22q13.1-13.33	pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3	copy number gain	not provided [RCV000846344]	Chr22:16888899..51197838 [GRCh37] Chr22:22q11.1-13.33	pathogenic
GRCh37/hg19 22q12.2-13.33(chr22:30654764-51197838)x3	copy number gain	not provided [RCV001007181]	Chr22:30654764..51197838 [GRCh37] Chr22:22q12.2-13.33	pathogenic
GRCh37/hg19 22q13.2(chr22:41853620-42385978)x1	copy number loss	not provided [RCV001258783]	Chr22:41853620..42385978 [GRCh37] Chr22:22q13.2	uncertain significance
GRCh37/hg19 22q13.2(chr22:42158393-42409550)x3	copy number gain	not provided [RCV001258784]	Chr22:42158393..42409550 [GRCh37] Chr22:22q13.2	uncertain significance
GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3	copy number gain	See cases [RCV001263056]	Chr22:16197005..51224252 [GRCh37] Chr22:22q11.1-13.33	pathogenic
NC_000022.10:g.(?_41697339)_(42466321_?)del	deletion	Common variable immunodeficiency 4 [RCV001305750]	Chr22:41697339..42466321 [GRCh37] Chr22:22q13.2	uncertain significance
NC_000022.10:g.(?_41277754)_(43089957_?)dup	duplication	Immunodeficiency, common variable, 4 [RCV001979926]	Chr22:41277754..43089957 [GRCh37] Chr22:22q13.2	uncertain significance
NC_000022.10:g.(?_35776672)_(42486826_?)dup	duplication	Adenylosuccinate lyase deficiency [RCV003119093]	Chr22:35776672..42486826 [GRCh37] Chr22:22q12.3-13.2	uncertain significance
NM_001207020.3(SHISA8):c.245G>A (p.Ser82Asn)	single nucleotide variant	not specified [RCV004312573]	Chr22:41914423 [GRCh38] Chr22:42310427 [GRCh37] Chr22:22q13.2	uncertain significance
NM_001207020.3(SHISA8):c.8G>C (p.Arg3Pro)	single nucleotide variant	not specified [RCV004184718]	Chr22:41914660 [GRCh38] Chr22:42310664 [GRCh37] Chr22:22q13.2	uncertain significance
NM_001207020.3(SHISA8):c.1030G>A (p.Ala344Thr)	single nucleotide variant	not specified [RCV004107529]	Chr22:41909929 [GRCh38] Chr22:42305933 [GRCh37] Chr22:22q13.2	uncertain significance
NM_001207020.3(SHISA8):c.302T>C (p.Leu101Pro)	single nucleotide variant	not specified [RCV004158433]	Chr22:41914366 [GRCh38] Chr22:42310370 [GRCh37] Chr22:22q13.2	uncertain significance
NM_001207020.3(SHISA8):c.430G>T (p.Ala144Ser)	single nucleotide variant	not specified [RCV004084497]	Chr22:41914238 [GRCh38] Chr22:42310242 [GRCh37] Chr22:22q13.2	uncertain significance
NM_001207020.3(SHISA8):c.400G>A (p.Gly134Ser)	single nucleotide variant	not specified [RCV004218797]	Chr22:41914268 [GRCh38] Chr22:42310272 [GRCh37] Chr22:22q13.2	uncertain significance
NM_001207020.3(SHISA8):c.119C>T (p.Ala40Val)	single nucleotide variant	not specified [RCV004203205]	Chr22:41914549 [GRCh38] Chr22:42310553 [GRCh37] Chr22:22q13.2	uncertain significance
NM_001207020.3(SHISA8):c.644G>A (p.Gly215Asp)	single nucleotide variant	not specified [RCV004184317]	Chr22:41911236 [GRCh38] Chr22:42307240 [GRCh37] Chr22:22q13.2	uncertain significance
NM_001207020.3(SHISA8):c.1097C>T (p.Pro366Leu)	single nucleotide variant	not specified [RCV004164606]	Chr22:41909862 [GRCh38] Chr22:42305866 [GRCh37] Chr22:22q13.2	uncertain significance
NM_001207020.3(SHISA8):c.697T>G (p.Ser233Ala)	single nucleotide variant	not specified [RCV004227199]	Chr22:41910522 [GRCh38] Chr22:42306526 [GRCh37] Chr22:22q13.2	uncertain significance
NM_001207020.3(SHISA8):c.407A>C (p.Glu136Ala)	single nucleotide variant	not specified [RCV004098312]	Chr22:41914261 [GRCh38] Chr22:42310265 [GRCh37] Chr22:22q13.2	uncertain significance
NM_001207020.3(SHISA8):c.103T>G (p.Ser35Ala)	single nucleotide variant	not specified [RCV004210967]	Chr22:41914565 [GRCh38] Chr22:42310569 [GRCh37] Chr22:22q13.2	uncertain significance
NM_001207020.3(SHISA8):c.124G>A (p.Glu42Lys)	single nucleotide variant	not specified [RCV004180614]	Chr22:41914544 [GRCh38] Chr22:42310548 [GRCh37] Chr22:22q13.2	uncertain significance
NM_001207020.3(SHISA8):c.10G>C (p.Ala4Pro)	single nucleotide variant	not specified [RCV004186418]	Chr22:41914658 [GRCh38] Chr22:42310662 [GRCh37] Chr22:22q13.2	uncertain significance
NM_001207020.3(SHISA8):c.13G>A (p.Gly5Arg)	single nucleotide variant	not specified [RCV004182910]	Chr22:41914655 [GRCh38] Chr22:42310659 [GRCh37] Chr22:22q13.2	uncertain significance
NM_001207020.3(SHISA8):c.1085G>C (p.Ser362Thr)	single nucleotide variant	not specified [RCV004154549]	Chr22:41909874 [GRCh38] Chr22:42305878 [GRCh37] Chr22:22q13.2	uncertain significance
NM_001207020.3(SHISA8):c.640C>T (p.Arg214Trp)	single nucleotide variant	not specified [RCV004149368]	Chr22:41911240 [GRCh38] Chr22:42307244 [GRCh37] Chr22:22q13.2	uncertain significance
NM_001207020.3(SHISA8):c.695G>A (p.Gly232Glu)	single nucleotide variant	not specified [RCV004221955]	Chr22:41910524 [GRCh38] Chr22:42306528 [GRCh37] Chr22:22q13.2	uncertain significance
NM_001207020.3(SHISA8):c.793G>T (p.Ala265Ser)	single nucleotide variant	not specified [RCV004285284]	Chr22:41910426 [GRCh38] Chr22:42306430 [GRCh37] Chr22:22q13.2	uncertain significance
NM_001207020.3(SHISA8):c.785T>C (p.Phe262Ser)	single nucleotide variant	not specified [RCV004281234]	Chr22:41910434 [GRCh38] Chr22:42306438 [GRCh37] Chr22:22q13.2	uncertain significance
NM_001207020.3(SHISA8):c.632G>C (p.Gly211Ala)	single nucleotide variant	not specified [RCV004253162]	Chr22:41911248 [GRCh38] Chr22:42307252 [GRCh37] Chr22:22q13.2	uncertain significance
NM_001207020.3(SHISA8):c.65T>A (p.Leu22His)	single nucleotide variant	not specified [RCV004252845]	Chr22:41914603 [GRCh38] Chr22:42310607 [GRCh37] Chr22:22q13.2	uncertain significance
NM_001207020.3(SHISA8):c.874C>T (p.Pro292Ser)	single nucleotide variant	not specified [RCV004249734]	Chr22:41910085 [GRCh38] Chr22:42306089 [GRCh37] Chr22:22q13.2	uncertain significance
NM_001207020.3(SHISA8):c.722G>A (p.Gly241Asp)	single nucleotide variant	not specified [RCV004352645]	Chr22:41910497 [GRCh38] Chr22:42306501 [GRCh37] Chr22:22q13.2	uncertain significance
NM_001207020.3(SHISA8):c.1016T>C (p.Leu339Pro)	single nucleotide variant	not specified [RCV004363944]	Chr22:41909943 [GRCh38] Chr22:42305947 [GRCh37] Chr22:22q13.2	uncertain significance
NM_001207020.3(SHISA8):c.1162A>G (p.Arg388Gly)	single nucleotide variant	not provided [RCV003433262]	Chr22:41909797 [GRCh38] Chr22:42305801 [GRCh37] Chr22:22q13.2	likely benign
GRCh37/hg19 22q13.1-13.31(chr22:39044105-45794212)x3	copy number gain	not specified [RCV003986179]	Chr22:39044105..45794212 [GRCh37] Chr22:22q13.1-13.31	pathogenic
GRCh37/hg19 22q13.2(chr22:41591000-42869987)x1	copy number loss	not provided [RCV004442758]	Chr22:41591000..42869987 [GRCh37] Chr22:22q13.2	uncertain significance
NM_001207020.3(SHISA8):c.673C>T (p.Arg225Cys)	single nucleotide variant	not specified [RCV004451093]	Chr22:41910546 [GRCh38] Chr22:42306550 [GRCh37] Chr22:22q13.2	uncertain significance
NM_001207020.3(SHISA8):c.906G>C (p.Leu302Phe)	single nucleotide variant	not specified [RCV004451097]	Chr22:41910053 [GRCh38] Chr22:42306057 [GRCh37] Chr22:22q13.2	uncertain significance
NM_001207020.3(SHISA8):c.961G>A (p.Ala321Thr)	single nucleotide variant	not specified [RCV004451098]	Chr22:41909998 [GRCh38] Chr22:42306002 [GRCh37] Chr22:22q13.2	uncertain significance
NM_001207020.3(SHISA8):c.1009G>A (p.Ala337Thr)	single nucleotide variant	not specified [RCV004451084]	Chr22:41909950 [GRCh38] Chr22:42305954 [GRCh37] Chr22:22q13.2	uncertain significance
NM_001207020.3(SHISA8):c.1170T>G (p.Asn390Lys)	single nucleotide variant	not specified [RCV004451085]	Chr22:41909789 [GRCh38] Chr22:42305793 [GRCh37] Chr22:22q13.2	uncertain significance
NM_001207020.3(SHISA8):c.532G>T (p.Ala178Ser)	single nucleotide variant	not specified [RCV004451089]	Chr22:41911348 [GRCh38] Chr22:42307352 [GRCh37] Chr22:22q13.2	uncertain significance
NM_001207020.3(SHISA8):c.634C>T (p.Leu212Phe)	single nucleotide variant	not specified [RCV004451090]	Chr22:41911246 [GRCh38] Chr22:42307250 [GRCh37] Chr22:22q13.2	uncertain significance
NM_001207020.3(SHISA8):c.682A>C (p.Asn228His)	single nucleotide variant	not specified [RCV004451094]	Chr22:41910537 [GRCh38] Chr22:42306541 [GRCh37] Chr22:22q13.2	uncertain significance
NM_001207020.3(SHISA8):c.844C>T (p.Pro282Ser)	single nucleotide variant	not specified [RCV004451096]	Chr22:41910115 [GRCh38] Chr22:42306119 [GRCh37] Chr22:22q13.2	uncertain significance
NM_001207020.3(SHISA8):c.718C>T (p.Arg240Cys)	single nucleotide variant	not specified [RCV004451095]	Chr22:41910501 [GRCh38] Chr22:42306505 [GRCh37] Chr22:22q13.2	uncertain significance
NM_001207020.3(SHISA8):c.665A>T (p.Asp222Val)	single nucleotide variant	not specified [RCV004451092]	Chr22:41910554 [GRCh38] Chr22:42306558 [GRCh37] Chr22:22q13.2	uncertain significance
NM_001207020.3(SHISA8):c.337G>A (p.Ala113Thr)	single nucleotide variant	not specified [RCV004451086]	Chr22:41914331 [GRCh38] Chr22:42310335 [GRCh37] Chr22:22q13.2	uncertain significance
NM_001207020.3(SHISA8):c.361C>G (p.Pro121Ala)	single nucleotide variant	not specified [RCV004451088]	Chr22:41914307 [GRCh38] Chr22:42310311 [GRCh37] Chr22:22q13.2	uncertain significance
NM_001207020.3(SHISA8):c.698C>T (p.Ser233Leu)	single nucleotide variant	not specified [RCV004342080]	Chr22:41910521 [GRCh38] Chr22:42306525 [GRCh37] Chr22:22q13.2	uncertain significance
NM_001207020.3(SHISA8):c.863C>G (p.Pro288Arg)	single nucleotide variant	not specified [RCV004339281]	Chr22:41910096 [GRCh38] Chr22:42306100 [GRCh37] Chr22:22q13.2	uncertain significance
NM_001207020.3(SHISA8):c.328G>T (p.Asp110Tyr)	single nucleotide variant	not specified [RCV004342847]	Chr22:41914340 [GRCh38] Chr22:42310344 [GRCh37] Chr22:22q13.2	uncertain significance

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	495
Count of miRNA genes:	403
Interacting mature miRNAs:	457
Transcripts:	ENST00000457093
Prediction methods:	Microtar, 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

IB284

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	22	42,307,762 - 42,308,055	UniSTS	GRCh37
Build 36	22	40,637,708 - 40,638,001	RGD	NCBI36
Celera	22	26,113,996 - 26,114,289	RGD
Cytogenetic Map	22	q13.2	UniSTS
HuRef	22	25,273,461 - 25,273,754	UniSTS
GeneMap99-GB4 RH Map	22	136.66	UniSTS
Whitehead-RH Map	22	157.3	UniSTS

Expression

RNA-SEQ Expression

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

alimentary part of gastrointestinal system

circulatory system

endocrine system

exocrine system

hemolymphoid system

hepatobiliary system

integumental system

musculoskeletal system

nervous system

renal system

reproductive system

respiratory system

sensory system

adipose tissue

appendage

entire extraembryonic component

High

Medium

203

201

499

Low

230

816

385

157

932

1125

286

2000

454

217

136

591

Below cutoff

1423

1570

621

225

649

202

2399

1318

1129

156

722

935

746

1681

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_001207020	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001353438	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001353439	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_006724256	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XR_002958691	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AI763350	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068256	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CR748983	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	Z99716	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

RefSeq Acc Id:

ENST00000457093 ⟹ ENSP00000389964

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	22	41,911,293 - 41,914,566 (-)	Ensembl

RefSeq Acc Id:

ENST00000621082 ⟹ ENSP00000481203

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	22	41,909,543 - 41,915,074 (-)	Ensembl

RefSeq Acc Id:

NM_001207020 ⟹ NP_001193949

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	22	41,909,543 - 41,915,074 (-)	NCBI
GRCh37	22	42,305,558 - 42,310,671 (-)	ENTREZGENE
HuRef	22	25,271,257 - 25,276,248 (-)	ENTREZGENE
CHM1_1	22	42,265,766 - 42,270,869 (-)	NCBI
T2T-CHM13v2.0	22	42,388,416 - 42,393,946 (-)	NCBI

Sequence:

show sequence

AGAGCGCGGGCTGTACTGAGAGCGCGGCGGGAAGGTAGCGCAGTCGGGCGGCCCGCGGCCCCGG
CGCGGCCTCCGCTAGGGCCAAGACCCGCACACCTGCCGGGCCGGGGAGAAGCCGGGGGCCGCGC
GCAGGCGAGGACCCGCCGCCCGGCCCGGGGAAGATCTCAGGACGCGGACCGGGCAGCTCGGGTC
CGAGGTGAGCCCGGGCGGAGGACGCGCCCACCGGAGGTGCGGCCTCGGAGCTCCAGACCCAGCC
CACTCGGGGCTGGGGTCCCCAGAGGAGGCCGACGGCCGAGGCGGCGTGCGCCGGGAGCCAGCGC
GATCCCTGCGGGAGCGGAGGAGCCGAGCCGGAGGGAGCCGCGGCGCCCGGCCATGCACCGGGCG
CAGTAGCGGGAGGCGCGGGCCCGATGGCGCGGGCCGGGGCGCGGGGACTGCTCGGCGGCCGCCG
TCCTCCCGGCCTCCGGCTCGCGCTCGCGCTTCGGCTCGCGTTGCTGCTGGCGCGGCCGCCGTCG
GGCCGCGCGGGAGCCCCCGAGGCGCAGGGTCCCGCGGCGCCCGGCACGACAGCCCCGGAGGGGG
GCGACCGCTGCCGCGGCTACTACGACGTGATGGGCCAGTGGGACCCGCCCTTCAACTGCAGCTC
CGGAGCCTACAGCTTCTGCTGCGGCACGTGCGGCTACCGCTTCTGCTGCCACGACGGGCCGCGG
CGCCTCGACCAGAGCCGCTGTTCCAACTACGACACGCCGGCCTGGGTCCAGACAGGCCGGCCGC
CCGCCCGCGCCCGCGACACCGCAGCGCCCCGGGACCCCGGCCGCGAGCGCAGCCATACGGCCGT
CTACGCTGTGTGCGGCGTCGCAGCGCTGCTGGTGCTGGCCGGCATCGGGGCGCGCCTGGGACTG
GAGAGGGCGCACAGCCCGCGCGCGCGGCGCACAGTGACCAGGGCGCTGACAGAGCTTCTGAAGC
AGCCGGGCCCCCAGGAGCCACTGCCTCCCACCCTGGGCCCACCCCTGGGTGGCTGTGTCCAGGT
GCAGATGGGGGACGGCCTCCCCCGGGGCTCCCCCCACAACAGCGCAGACAAGAAGCGCCTCAAC
AACGCGCCCCGGGGGTCGGCCGCCCCGGGGCCCCCGCGCGGCCCGCGGCTGCAGGGCGGCGGCA
GCCTGACGCTGCAGCCAGACTACGCCAAGTACGCCACGTTCAAGGCCGCCGCGCTCAAGGCCGC
AGAGGCCGCCCCGCGGGACTTCTGTCAGCGTTTCCCCGCCCTCGAGCCGTCCCCGCGGCAACCC
CCGGCGCGGGCTCCGCGACCATCCCCGGACTTGCCTGCGCCGCTGGACGCCTGCCCCTGGGCCC
CGCCGGTCTACGCGCCCCCTGCCGCGCCGGGCCCCTATGCCGCCTGGACCTCCAGTCGCCCGGC
CCGGCCCGCCCCGCTCAGCCACCCGACGGCTCGGGCCTTCCAGGTACCCCGGCGACCCGGGCAC
GCGGCCCGGCGCCAGTTCAGTGTGAAGATGCCTGAGACCTTCAACCCGCAGCTCCCCGGCCTTT
ACGGCAGCGCGGGCCGCGGGTCCCGGTACCTAAGGACCAATAGCAAGACCGAGGTCACCGTGTG
AAGCGGGGCCGCGGTGCCCTCGAGGCATGGGCTGGGGTCCTGTCTGCCCGTCGGAGCCTCAGGC
CACAGGGAGAGGAGCGCCTGCCGTAAGGCCAGCTCTTCTGTCTGCCTCAACGGCAGTGGTGTCT
TGGAGCCTGCAGGCCGCGGGTTCGTCTTGTAAATAAGCCCTTTTATGTGGTTCCTGCCCCTGAG
AATAAAGAAGCCCCAGCGTGGCTGCGAGGCA

hide sequence

RefSeq Acc Id:

NM_001353438 ⟹ NP_001340367

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	22	41,909,543 - 41,915,074 (-)	NCBI
T2T-CHM13v2.0	22	42,388,416 - 42,393,946 (-)	NCBI

Sequence:

show sequence

AGAGCGCGGGCTGTACTGAGAGCGCGGCGGGAAGGTAGCGCAGTCGGGCGGCCCGCGGCCCCGG
CGCGGCCTCCGCTAGGGCCAAGACCCGCACACCTGCCGGGCCGGGGAGAAGCCGGGGGCCGCGC
GCAGGCGAGGACCCGCCGCCCGGCCCGGGGAAGATCTCAGGACGCGGACCGGGCAGCTCGGGTC
CGAGGTGAGCCCGGGCGGAGGACGCGCCCACCGGAGGTGCGGCCTCGGAGCTCCAGACCCAGCC
CACTCGGGGCTGGGGTCCCCAGAGGAGGCCGACGGCCGAGGCGGCGTGCGCCGGGAGCCAGCGC
GATCCCTGCGGGAGCGGAGGAGCCGAGCCGGAGGGAGCCGCGGCGCCCGGCCATGCACCGGGCG
CAGTAGCGGGAGGCGCGGGCCCGATGGCGCGGGCCGGGGCGCGGGGACTGCTCGGCGGCCGCCG
TCCTCCCGGCCTCCGGCTCGCGCTCGCGCTTCGGCTCGCGTTGCTGCTGGCGCGGCCGCCGTCG
GGCCGCGCGGGAGCCCCCGAGGCGCAGGGTCCCGCGGCGCCCGGCACGACAGCCCCGGAGGGGG
GCGACCGCTGCCGCGGCTACTACGACGTGATGGGCCAGTGGGACCCGCCCTTCAACTGCAGCTC
CGGAGCCTACAGCTTCTGCTGCGGCACGTGCGGCTACCGCTTCTGCTGCCACGACGGGCCGCGG
CGCCTCGACCAGAGCCGCTGTTCCAACTACGACACGCCGGCCTGGGTCCAGACAGGCCGGCCGC
CCGCCCGCGCCCGCGACACCGCAGCGCCCCGGGACCCCGGCCGCGAGCGCAGCCATACGGCCGT
CTACGCTGTGTGCGGCGTCGCAGCGCTGCTGGTGCTGGCCGGCATCGGGGCGCGCCTGGGACTG
GAGAGGGCGCACAGCCCGCGCGCGCGGCGCACAGTGACCAGGGCGCTGACAGAGCTTCTGAAGC
AGCCGGGCCCCCAGGAGCCACTGCCTCCCACCCTGGGCCCACCCCTGGGTGGCTGTGTCCAGGT
GCAGATGGGGGACGGCCTCCCCCGGGGCTCCCCCCACAACAGCGCAGGTCCCAGGACTCCGCGC
CTGGCTCGAGCGTCGCCTCCGGGCGAGCCGTTCATGAGGGTGGCACCCCCCGGGCTGGCTGCCG
CCGCCGCTGCGCGTGACTCGGAGCCAGGCCCTGTTCCAGGCGCTGGAGGCTGCGGCGAAGACAG
GCTTGGCTCGCAGCCTCGCCCGGAGAACGGTCCCCCAGGTTCTCACCGAACGGCCTCGGGGAGA
GGACTACGGAGAGGTGACAGCGAGGGCGGAGTGAACCGGGGCATCGGACCGAGCCGCGTCTCAC
TCCTCGCTCCAGACAAGAAGCGCCTCAACAACGCGCCCCGGGGGTCGGCCGCCCCGGGGCCCCC
GCGCGGCCCGCGGCTGCAGGGCGGCGGCAGCCTGACGCTGCAGCCAGACTACGCCAAGTACGCC
ACGTTCAAGGCCGCCGCGCTCAAGGCCGCAGAGGCCGCCCCGCGGGACTTCTGTCAGCGTTTCC
CCGCCCTCGAGCCGTCCCCGCGGCAACCCCCGGCGCGGGCTCCGCGACCATCCCCGGACTTGCC
TGCGCCGCTGGACGCCTGCCCCTGGGCCCCGCCGGTCTACGCGCCCCCTGCCGCGCCGGGCCCC
TATGCCGCCTGGACCTCCAGTCGCCCGGCCCGGCCCGCCCCGCTCAGCCACCCGACGGCTCGGG
CCTTCCAGGTACCCCGGCGACCCGGGCACGCGGCCCGGCGCCAGTTCAGTGTGAAGATGCCTGA
GACCTTCAACCCGCAGCTCCCCGGCCTTTACGGCAGCGCGGGCCGCGGGTCCCGGTACCTAAGG
ACCAATAGCAAGACCGAGGTCACCGTGTGAAGCGGGGCCGCGGTGCCCTCGAGGCATGGGCTGG
GGTCCTGTCTGCCCGTCGGAGCCTCAGGCCACAGGGAGAGGAGCGCCTGCCGTAAGGCCAGCTC
TTCTGTCTGCCTCAACGGCAGTGGTGTCTTGGAGCCTGCAGGCCGCGGGTTCGTCTTGTAAATA
AGCCCTTTTATGTGGTTCCTGCCCCTGAGAATAAAGAAGCCCCAGCGTGGCTGCGAGGCA

hide sequence

RefSeq Acc Id:

NM_001353439 ⟹ NP_001340368

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	22	41,909,543 - 41,915,074 (-)	NCBI
T2T-CHM13v2.0	22	42,388,416 - 42,393,946 (-)	NCBI

Sequence:

show sequence

AGAGCGCGGGCTGTACTGAGAGCGCGGCGGGAAGGTAGCGCAGTCGGGCGGCCCGCGGCCCCGG
CGCGGCCTCCGCTAGGGCCAAGACCCGCACACCTGCCGGGCCGGGGAGAAGCCGGGGGCCGCGC
GCAGGCGAGGACCCGCCGCCCGGCCCGGGGAAGATCTCAGGACGCGGACCGGGCAGCTCGGGTC
CGAGGTGAGCCCGGGCGGAGGACGCGCCCACCGGAGGTGCGGCCTCGGAGCTCCAGACCCAGCC
CACTCGGGGCTGGGGTCCCCAGAGGAGGCCGACGGCCGAGGCGGCGTGCGCCGGGAGCCAGCGC
GATCCCTGCGGGAGCGGAGGAGCCGAGCCGGAGGGAGCCGCGGCGCCCGGCCATGCACCGGGCG
CAGTAGCGGGAGGCGCGGGCCCGATGGCGCGGGCCGGGGCGCGGGGACTGCTCGGCGGCCGCCG
TCCTCCCGGCCTCCGGCTCGCGCTCGCGCTTCGGCTCGCGTTGCTGCTGGCGCGGCCGCCGTCG
GGCCGCGCGGGAGCCCCCGAGGCGCAGGGTCCCGCGGCGCCCGGCACGACAGCCCCGGAGGGGG
GCGACCGCTGCCGCGGCTACTACGACGTGATGGGCCAGTGGGACCCGCCCTTCAACTGCAGCTC
CGGAGCCTACAGCTTCTGCTGCGGCACGTGCGGCTACCGCTTCTGCTGCCACGACGGGCCGCGG
CGCCTCGACCAGAGCCGCTGTTCCAACTACGACACGCCGGCCTGGGTCCAGACAGGCCGGCCGC
CCGCCCGCGCCCGCGACACCGCAGCGCCCCGGGACCCCGGCCGCGAGCGCAGCCATACGGCCGT
CTACGCTGTGTGCGGCGTCGCAGCGCTGCTGGTGCTGGCCGGCATCGGGGCGCGCCTGGGACTG
GAGAGGGCGCACAGCCCGCGCGCGCGGCGCACAGTGACCAGGGCGCTGACAGAGCTTCTGAAGC
AGCCGGGCCCCCAGGAGCCACTGCCTCCCACCCTGGGCCCACCCCTGGGTGGCTGTGTCCAGGT
GCAGATGGGGGACGGCCTCCCCCGGGGCTCCCCCCACAACAGCGCAGGCCCTGTTCCAGGCGCT
GGAGGCTGCGGCGAAGACAGGCTTGGCTCGCAGCCTCGCCCGGAGAACGGTCCCCCAGGTTCTC
ACCGAACGGCCTCGGGGAGAGGACTACGGAGAGGTGACAGCGAGGGCGGAGTGAACCGGGGCAT
CGGACCGAGCCGCGTCTCACTCCTCGCTCCAGACAAGAAGCGCCTCAACAACGCGCCCCGGGGG
TCGGCCGCCCCGGGGCCCCCGCGCGGCCCGCGGCTGCAGGGCGGCGGCAGCCTGACGCTGCAGC
CAGACTACGCCAAGTACGCCACGTTCAAGGCCGCCGCGCTCAAGGCCGCAGAGGCCGCCCCGCG
GGACTTCTGTCAGCGTTTCCCCGCCCTCGAGCCGTCCCCGCGGCAACCCCCGGCGCGGGCTCCG
CGACCATCCCCGGACTTGCCTGCGCCGCTGGACGCCTGCCCCTGGGCCCCGCCGGTCTACGCGC
CCCCTGCCGCGCCGGGCCCCTATGCCGCCTGGACCTCCAGTCGCCCGGCCCGGCCCGCCCCGCT
CAGCCACCCGACGGCTCGGGCCTTCCAGGTACCCCGGCGACCCGGGCACGCGGCCCGGCGCCAG
TTCAGTGTGAAGATGCCTGAGACCTTCAACCCGCAGCTCCCCGGCCTTTACGGCAGCGCGGGCC
GCGGGTCCCGGTACCTAAGGACCAATAGCAAGACCGAGGTCACCGTGTGAAGCGGGGCCGCGGT
GCCCTCGAGGCATGGGCTGGGGTCCTGTCTGCCCGTCGGAGCCTCAGGCCACAGGGAGAGGAGC
GCCTGCCGTAAGGCCAGCTCTTCTGTCTGCCTCAACGGCAGTGGTGTCTTGGAGCCTGCAGGCC
GCGGGTTCGTCTTGTAAATAAGCCCTTTTATGTGGTTCCTGCCCCTGAGAATAAAGAAGCCCCA
GCGTGGCTGCGAGGCA

hide sequence

RefSeq Acc Id:

XM_006724256 ⟹ XP_006724319

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	22	41,909,543 - 41,915,074 (-)	NCBI

Sequence:

show sequence

CCTGCGGGAGCGGAGGAGCCGAGCCGGAGGGAGCCGCGGCGCCCGGCCATGCACCGGGCGCAGT
AGCGGGAGGCGCGGGCCCGATGGCGCGGGCCGGGGCGCGGGGACTGCTCGGCGGCCGCCGTCCT
CCCGGCCTCCGGCTCGCGCTCGCGCTTCGGCTCGCGTTGCTGCTGGCGCGGCCGCCGTCGGGCC
GCGCGGGAGCCCCCGAGGCGCAGGGTCCCGCGGCGCCCGGCACGACAGCCCCGGAGGGGGGCGA
CCGCTGCCGCGGCTACTACGACGTGATGGGCCAGTGGGACCCGCCCTTCAACTGCAGCTCCGGA
GCCTACAGCTTCTGCTGCGGCACGTGCGGCTACCGCTTCTGCTGCCACGACGGGCCGCGGCGCC
TCGACCAGAGCCGCTGTTCCAACTACGACACGCCGGCCTGGGTCCAGACAGGCCGGCCGCCCGC
CCGCGCCCGCGACACCGCAGCGCCCCGGGACCCCGGCCGCGAGCGCAGCCATACGGCCGTCTAC
GCTGTGTGCGGCGTCGCAGCGCTGCTGGTGCTGGCCGGCATCGGGGCGCGCCTGGGACTGGAGA
GGGCGCACAGCCCGCGCGCGCGGCGCACAGTGACCAGGGCGCTGACAGAGCTTCTGAAGCAGCC
GGGCCCCCAGGAGCCACTGCCTCCCACCCTGGGCCCACCCCTGGGTGGCTGTGTCCAGGTGCAG
ATGGGGGACGGCCTCCCCCGGGGCTCCCCCCACAACAGCGCAGGCGCTGGAGGCTGCGGCGAAG
ACAGGCTTGGCTCGCAGCCTCGCCCGGAGAACGGTCCCCCAGGTTCTCACCGAACGGCCTCGGG
GAGAGGACTACGGAGAGGTGACAGCGAGGGCGGAGTGAACCGGGGCATCGGACCGAGCCGCGTC
TCACTCCTCGCTCCAGACAAGAAGCGCCTCAACAACGCGCCCCGGGGGTCGGCCGCCCCGGGGC
CCCCGCGCGGCCCGCGGCTGCAGGGCGGCGGCAGCCTGACGCTGCAGCCAGACTACGCCAAGTA
CGCCACGTTCAAGGCCGCCGCGCTCAAGGCCGCAGAGGCCGCCCCGCGGGACTTCTGTCAGCGT
TTCCCCGCCCTCGAGCCGTCCCCGCGGCAACCCCCGGCGCGGGCTCCGCGACCATCCCCGGACT
TGCCTGCGCCGCTGGACGCCTGCCCCTGGGCCCCGCCGGTCTACGCGCCCCCTGCCGCGCCGGG
CCCCTATGCCGCCTGGACCTCCAGTCGCCCGGCCCGGCCCGCCCCGCTCAGCCACCCGACGGCT
CGGGCCTTCCAGGTACCCCGGCGACCCGGGCACGCGGCCCGGCGCCAGTTCAGTGTGAAGATGC
CTGAGACCTTCAACCCGCAGCTCCCCGGCCTTTACGGCAGCGCGGGCCGCGGGTCCCGGTACCT
AAGGACCAATAGCAAGACCGAGGTCACCGTGTGAAGCGGGGCCGCGGTGCCCTCGAGGCATGGG
CTGGGGTCCTGTCTGCCCGTCGGAGCCTCAGGCCACAGGGAGAGGAGCGCCTGCCGTAAGGCCA
GCTCTTCTGTCTGCCTCAACGGCAGTGGTGTCTTGGAGCCTGCAGGCCGCGGGTTCGTCTTGTA
AATAAGCCCTTTTATGTGGTTCCTGCCCCTGAGAATAAAGAAGCCCCAGCGTGGCTGCGAGGCA
CCATTGGTCACTGACTGTACAGATGGCAGTGCAGGCAGAGGGCACGGCGAGTGCAAGGTTGGAG
GACTGCTCCAGTGCACCGGCCAGAGCCAGGGGGAAGTGGCTGGAGAGGGGGGCCAGGGTTGAAT
GTCAGGGTTAATGCCCACCCCCGTGGGAGCCCTGGGAGAGAGGGAACAGTTAGACTTCAGCCAT
AGAAAGGCCCGGGCACAGGAGAGAGGGCTGTTGGGTCCAAGGCCCAGTGGGGGGTCCATGCCCT
GTACTGAAGGTGAGCCCCCTCCAGCCGCCACTCTGCAGCTTGAGTTGGCTGAACCTGGCTGATG
CTCACTGACCACTGGCTGTGGGCCAGCCCCTGGCCTGCAGGTCGCTTGGCCAGATTGGCCCCGG
GCTACCCCCCTTAATGGGTGTGGGCCGTGTGGACATCTGGTGCTCCGGATGGGGGCGCCTCCTC
CCAGGAGCTTCTCTGAAGGAAATGGGGGAAAAGCTGGAGCAGGGTCCCTGGCAGTGTCCCTCCG
GGAGGGCTTCCTGCACCTGGCTGTGGTCCAGAGCACTGCTAGCAGTCTGCGTGCATCTTCCACA
GAGTTCCTCTCCGCCAGGTAACACTGGGGAGGCTAGGGGTCAGGGCTGTGGCTGGTTGAGGTGT
GTGATGTGGGGAGGCTAGGGGCCAGGGCTGTGGCTGGTTGAGGTGTGTGATGTGGGGAGGCTAG
GGGCCAGGGCTGTGGCTGGTTGAGGTGTGTGACCTCAGCAAAGCCACCCAGGTGGGTCTGTTTC
CCTCCTGAGTACCTGAAGTGTGGTGTACTGTTTTAAGAACAATGGCCACCATTTGTTGGCCTTT
CTCAGGAAATCCACAAGCGCCTCAAGTGGGTGTGTCTTTACAGAGGAGGAAATTTGGGTTTTGA
AACCTAAGTAGCTTGCCCAAGGTCACCCAGCAGACTCCCAGGTTAGGACTCTCCCGAATTGCTG
TGAATCGGCTGGAATGGCAAGCAACAGGCAGTTTGGCTGGGAGGGAGGGTTCTGAGGGTTGGTA
GGGAGGGGTCCCTGTTCCCAGGGTATATATAAACAGTCTGGAGCTTTCCTTCTGCTGGTTGGGC
TGCCCTGAGGCCCCAGAACCCACCAGGCCCGGTCTCCGCTCCTGCCACAAAGGGTCCACCTCCC
TGTCCCTTTAGGCTGTTAAGGAAACCAAGGCCTAGAAGCACCAGGACAGAGCTCTGGGCCCACG
GTCCTGCCCCTGTCCCACAGCTGTGCAGAGCTGGAGGAGGGTGGGGGCTGAGGCATGGAGCCTA
CACAGACTCACAAAGGAATCTGGTTGCTTCTCACCCCACCTCCCACCCCCTGCTGGGCTGTGCC
AAGAGTGGGCAATTCCCCCTGCTCATTCTCAGTTCCAAGGGCCCTGGATCTCCATCCCAGTGGA
GCCAGGCTGAGGCTGTGGGCAGTGGCCATCCCTGAAAATGATGGAGCTGTGCACGGGACCAGCT
GCAATTGGGCCTCACCGGGCTGCTCTGGTCTCAGGGTAGCCTGCTGTGACTACCCTTCAGAGAA
GGATGTGGCTCATAGCTGAGGGATTCAGCCACATGCTCAGTCACATCCTGACTCCTCTTGCGAC
GAGGCCCAGCACTCCCATCCCAGTCTGTGGTCCTGTCCCCTGGTGTGTCTTACGCCAAGCCTGG
CCTCACCAGCCACACAAGGCACTCGCTGTAAACTTGCATCCCATCACTCAGTCCTGGCAGACAA
GCCTTTGGAGCTGCAGTTCATGGCTGAGCTTAGCTTCCCAATTCTGCACACGTGGAAGTGGAGA
CTGAGGCCAGGTCCCACCCCAGGTGACCCAGCTGGGAAGCACAGGACCTGGACTTGGATCTGAC
TTGTGGGCCAGTGAGCCTCCTGGCTCAGAGGATCACTGACTTCAGGGAGGGAGAAACTAAGGAG
CAGTTTACCCAGTGGGGGAGAGGGTCAGCACCCCAAATCTGTCAGCCAGCCTGCATTACATCCA
GGGAACAAGCTGGAACCTGGATACAGTGACCTCTGACCCCCAAAGTGCCACCCACAGCCCTTTT
ATCCCAGGCTGGAGGGTGCGCCAGGCACCGGAAGGAAGGTGGACAAGGGAGGCCCATTAGACTG
AAGCCAGGGGCCCTCTCAGCAGTTGGGGGGCTGCCCTCAGTCCCTGGCCCATTGCCTGCCAAGT
CACGCAGCCCCTTGGCTGGGCACCACAGCAGTCGCACTACAGACCCTCACACACCTCGTGCTGG
GTGGTACCAATCTGTGTTTATTGAATATGTCTGGGACACAGTGACTGATTGATTGAACATCAAG
AAAGCTATAGGTGTACCCCCCTTTTCAGTGAAAAACCACCCCCTCCCACACCCAAACAATAGTG
AGAAAAGGCACAGGACATACACACAACACGCAGGCGGGCAGGGTCCATAAATTACAGTGAGAGT
AGGGGAGGGGCAGGAGAGAAAGAAAGCAGGTGGGGTCCAAGCACACCCCAGGGATAACATTCCA
GCCTGCATCAAGGTGGCCCTGCTGTGAGCACCCCCCAGTCTGTGCTGGGGCTCCTGCCCACCCT
CTGCTCCAACCAGCCTGAGGATGAGGCACAGGGAGGCAGGGCCCATCACTCAGGAGGCCATGGG
AGAAACAGTCTCCGGGAGGTGCTGCACCTGGGGACCCAGAAAAGTAGGACTTTTTCTCCTAGGA
CCCGCATCGAGGCAGGGGACCTCATTCCTAGTGCCCACCATAGGCAACCCTCTGCCCACTCTGA
AAAGAGGGGCTTGCCGCTGGGGAGGGATTAGGGGTTGGTCCCTGCCATCCTGGTTTATTTATTT
TCAGCTCAAGAATTAATTAGGTTTAAATATATACAGATATGCCTCAACTTACCATGGGGTTACT
TCCTGATAAACCCATCATAAATGAAAATATCCTAAGTCACAAATTCATTTAATACCCCAACAGA
CCAATTGTAAAGTTGAAACATGGTTTAAGTTGAACCACTGTTAAGTTGGGGACAGTCTGTACTG
TGGAGGTAGGAGATGGGGTAGGGGGAGGAGGGAACCTAGAAGCCATGCTGAAGGCCCCTGGTCC
CCAGTCCCCATGGGTGGCTTCATTTCTCCCAGCCCCCTGGGCCTACCCTGAGCTTGGGCTAACA
TCCTAGGAGGCGGGGAGTGGGAAGGAACAGGACAATTAAATAAGATACCATTTATTTTTTAAAA
AATTAAAAAATAATGCCAACATTATTTCATGCATCCGCAGGCCTGCCCCCTGCCTCCCACCAGC
CTCCCAGGGCTGGGCCCCCCTCCTCCCCTGGCTGTCCTGTGTAATAAAGGGAAAAACAATGAGC
AGGCTCAGTCAGGCCCAGGGGAGGGAACGCAGACCCAGGGAGAGAATCAAGACGCTACAGCAAC
TCAGCCTCGCATCATGGCAAACCCAAGCACACTGGTAGAAAACATTCGTATAAAAAGGGGAGGG
CATGCTGGGCACAGGCCTGAGGGCAACTGCTCCCTGGT

hide sequence

Protein Sequences


Protein RefSeqs	NP_001193949	(Get FASTA)	NCBI Sequence Viewer
	NP_001340367	(Get FASTA)	NCBI Sequence Viewer
	NP_001340368	(Get FASTA)	NCBI Sequence Viewer
	XP_006724319	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	B8ZZ34	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000389964.1
	ENSP00000481203
	ENSP00000481203.1

RefSeq Acc Id:	NP_001193949 ⟸ NM_001207020
- Peptide Label:	isoform 3 precursor
- UniProtKB:	B8ZZ34 (UniProtKB/Swiss-Prot), A0A087WXQ4 (UniProtKB/TrEMBL)
- Sequence:	show sequence MARAGARGLLGGRRPPGLRLALALRLALLLARPPSGRAGAPEAQGPAAPGTTAPEGGDRCRGYY DVMGQWDPPFNCSSGAYSFCCGTCGYRFCCHDGPRRLDQSRCSNYDTPAWVQTGRPPARARDTA APRDPGRERSHTAVYAVCGVAALLVLAGIGARLGLERAHSPRARRTVTRALTELLKQPGPQEPL PPTLGPPLGGCVQVQMGDGLPRGSPHNSADKKRLNNAPRGSAAPGPPRGPRLQGGGSLTLQPDY AKYATFKAAALKAAEAAPRDFCQRFPALEPSPRQPPARAPRPSPDLPAPLDACPWAPPVYAPPA APGPYAAWTSSRPARPAPLSHPTARAFQVPRRPGHAARRQFSVKMPETFNPQLPGLYGSAGRGS RYLRTNSKTEVTV hide sequence

RefSeq Acc Id:

XP_006724319 ⟸ XM_006724256

- Peptide Label:

isoform X1

- Sequence:

show sequence

MARAGARGLLGGRRPPGLRLALALRLALLLARPPSGRAGAPEAQGPAAPGTTAPEGGDRCRGYY
DVMGQWDPPFNCSSGAYSFCCGTCGYRFCCHDGPRRLDQSRCSNYDTPAWVQTGRPPARARDTA
APRDPGRERSHTAVYAVCGVAALLVLAGIGARLGLERAHSPRARRTVTRALTELLKQPGPQEPL
PPTLGPPLGGCVQVQMGDGLPRGSPHNSAGAGGCGEDRLGSQPRPENGPPGSHRTASGRGLRRG
DSEGGVNRGIGPSRVSLLAPDKKRLNNAPRGSAAPGPPRGPRLQGGGSLTLQPDYAKYATFKAA
ALKAAEAAPRDFCQRFPALEPSPRQPPARAPRPSPDLPAPLDACPWAPPVYAPPAAPGPYAAWT
SSRPARPAPLSHPTARAFQVPRRPGHAARRQFSVKMPETFNPQLPGLYGSAGRGSRYLRTNSKT
EVTV

hide sequence

RefSeq Acc Id:

NP_001340368 ⟸ NM_001353439

- Peptide Label:

isoform 2 precursor

- Sequence:

show sequence

MARAGARGLLGGRRPPGLRLALALRLALLLARPPSGRAGAPEAQGPAAPGTTAPEGGDRCRGYY
DVMGQWDPPFNCSSGAYSFCCGTCGYRFCCHDGPRRLDQSRCSNYDTPAWVQTGRPPARARDTA
APRDPGRERSHTAVYAVCGVAALLVLAGIGARLGLERAHSPRARRTVTRALTELLKQPGPQEPL
PPTLGPPLGGCVQVQMGDGLPRGSPHNSAGPVPGAGGCGEDRLGSQPRPENGPPGSHRTASGRG
LRRGDSEGGVNRGIGPSRVSLLAPDKKRLNNAPRGSAAPGPPRGPRLQGGGSLTLQPDYAKYAT
FKAAALKAAEAAPRDFCQRFPALEPSPRQPPARAPRPSPDLPAPLDACPWAPPVYAPPAAPGPY
AAWTSSRPARPAPLSHPTARAFQVPRRPGHAARRQFSVKMPETFNPQLPGLYGSAGRGSRYLRT
NSKTEVTV

hide sequence

RefSeq Acc Id:

NP_001340367 ⟸ NM_001353438

- Peptide Label:

isoform 1 precursor

- Sequence:

show sequence

MARAGARGLLGGRRPPGLRLALALRLALLLARPPSGRAGAPEAQGPAAPGTTAPEGGDRCRGYY
DVMGQWDPPFNCSSGAYSFCCGTCGYRFCCHDGPRRLDQSRCSNYDTPAWVQTGRPPARARDTA
APRDPGRERSHTAVYAVCGVAALLVLAGIGARLGLERAHSPRARRTVTRALTELLKQPGPQEPL
PPTLGPPLGGCVQVQMGDGLPRGSPHNSAGPRTPRLARASPPGEPFMRVAPPGLAAAAAARDSE
PGPVPGAGGCGEDRLGSQPRPENGPPGSHRTASGRGLRRGDSEGGVNRGIGPSRVSLLAPDKKR
LNNAPRGSAAPGPPRGPRLQGGGSLTLQPDYAKYATFKAAALKAAEAAPRDFCQRFPALEPSPR
QPPARAPRPSPDLPAPLDACPWAPPVYAPPAAPGPYAAWTSSRPARPAPLSHPTARAFQVPRRP
GHAARRQFSVKMPETFNPQLPGLYGSAGRGSRYLRTNSKTEVTV

hide sequence

RefSeq Acc Id:

ENSP00000481203 ⟸ ENST00000621082

RefSeq Acc Id:

ENSP00000389964 ⟸ ENST00000457093

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-B8ZZ34-F1-model_v2	AlphaFold	B8ZZ34	1-397	view protein structure

Promoters

RGD ID:

6799789

Promoter ID:

HG_KWN:43029

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

K562, Lymphoblastoid

Transcripts:

OTTHUMT00000322048

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	22	40,640,901 - 40,641,401 (-)	MPROMDB

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:18351	AgrOrtholog
COSMIC	SHISA8	COSMIC
Ensembl Genes	ENSG00000234965	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript	ENST00000457093.1	UniProtKB/TrEMBL
	ENST00000621082	ENTREZGENE
	ENST00000621082.2	UniProtKB/Swiss-Prot
GTEx	ENSG00000234965	GTEx
HGNC ID	HGNC:18351	ENTREZGENE
Human Proteome Map	SHISA8	Human Proteome Map
InterPro	Shisa	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	hsa:440829	UniProtKB/Swiss-Prot
NCBI Gene	440829	ENTREZGENE
OMIM	617329	OMIM
PANTHER	PROTEIN SHISA-8	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	PTHR31774	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam	Shisa	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA165378367	PharmGKB
UniProt	A0A087WXQ4	ENTREZGENE
	A0A2Q2RX16_HUMAN	UniProtKB/TrEMBL
	B8ZZ34	ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary	A0A087WXQ4	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2013-08-06	SHISA8	shisa family member 8		shisa homolog 8 (Xenopus laevis)	Symbol and/or name change	5135510	APPROVED
2011-07-27	SHISA8	shisa homolog 8 (Xenopus laevis)	C22orf17	chromosome 22 open reading frame 17	Symbol and/or name change	5135510	APPROVED

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

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

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

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

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Imported Disease Annotations - ClinVar