SNAI3 (snail family transcriptional repressor 3)

Gene: SNAI3 (snail family transcriptional repressor 3) Homo sapiens

Analyze

Symbol:

SNAI3

Name:

snail family transcriptional repressor 3

RGD ID:

1320115

HGNC Page

HGNC:18411

Description:

Enables sequence-specific double-stranded DNA binding activity. Predicted to be involved in regulation of DNA-templated transcription. Predicted to act upstream of or within regulation of transcription by RNA polymerase II. Predicted to be located in nucleus. Predicted to be part of transcription regulator complex.

Type:

protein-coding

RefSeq Status:

VALIDATED

Previously known as:

MGC129606; SMUC; snail family zinc finger 3; snail homolog 3; SNAIL3; Zfp293; zinc finger protein 293; zinc finger protein SNAI3; ZNF293

RGD Orthologs

Alliance Genes

More Info

more info ...

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	16	88,677,688 - 88,686,507 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	16	88,677,688 - 88,686,507 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	16	88,744,096 - 88,752,915 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	16	87,271,591 - 87,280,383 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	16	87,271,591 - 87,280,290	NCBI
Celera	16	73,813,753 - 73,822,552 (-)	NCBI		Celera
Cytogenetic Map	16	q24.2	NCBI
HuRef	16	74,438,454 - 74,447,255 (-)	NCBI		HuRef
CHM1_1	16	90,155,427 - 90,164,201 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	16	94,746,814 - 94,755,643 (-)	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

16Q24.3 Microdeletion Syndrome (IAGP)

autosomal recessive chronic granulomatous disease 4 (IAGP)

genetic disease (IAGP)

KBG syndrome (IAGP)

perinatal necrotizing enterocolitis (EXP)

primary ciliary dyskinesia 33 (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

17beta-estradiol (EXP)

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

3-Nitrobenzanthrone (EXP)

4,4'-diaminodiphenylmethane (ISO)

4-\{[(5,5,8,8-tetramethyl-5,6,7,8-tetrahydronaphthalen-2-yl)carbonyl]amino\}benzoic acid (EXP)

acetamide (ISO)

aflatoxin B1 (EXP)

aldehydo-D-glucose (ISO)

arsane (EXP)

arsenic atom (EXP)

benzo[a]pyrene (EXP)

bisphenol A (ISO)

butanal (EXP)

cadmium atom (EXP)

calcitriol (EXP)

cisplatin (EXP)

cocaine (ISO)

copper atom (ISO)

copper(0) (ISO)

D-glucose (ISO)

entinostat (EXP)

fructose (ISO)

glucose (ISO)

hydralazine (EXP)

lipopolysaccharide (EXP)

N-methyl-4-phenylpyridinium (EXP)

oxidopamine (EXP)

potassium dichromate (ISO)

propanal (EXP)

rotenone (EXP)

S-(1,2-dichlorovinyl)-L-cysteine (EXP)

silicon dioxide (EXP,ISO)

sodium arsenite (ISO)

sotorasib (EXP)

tamoxifen (ISO)

testosterone (EXP)

tetrachloromethane (ISO)

trametinib (EXP)

triptonide (ISO)

valproic acid (EXP)

vinclozolin (ISO)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

negative regulation of transcription by RNA polymerase II (IEA)

regulation of DNA-templated transcription (IBA,IEA,ISO)

regulation of transcription by RNA polymerase II (IEA,ISO)

Cellular Component

nucleus (IEA)

transcription regulator complex (IEA)

Molecular Function

copper ion binding (IEA)

DNA binding (IEA)

DNA-binding transcription factor activity (IEA)

DNA-binding transcription factor activity, RNA polymerase II-specific (IBA,IEA)

DNA-binding transcription repressor activity, RNA polymerase II-specific (IEA)

metal ion binding (IEA)

RNA polymerase II cis-regulatory region sequence-specific DNA binding (IBA,IEA)

RNA polymerase II transcription regulatory region sequence-specific DNA binding (IEA)

sequence-specific double-stranded DNA binding (IDA)

References

References - curated

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

Additional References at PubMed

PMID:12477932	PMID:12579345	PMID:14673164	PMID:21873635	PMID:24638100	PMID:26186194	PMID:28473536	PMID:28514442	PMID:29507755	PMID:29676528	PMID:33961781	PMID:34586742

Genomics

Comparative Map Data

SNAI3
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	16	88,677,688 - 88,686,507 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	16	88,677,688 - 88,686,507 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	16	88,744,096 - 88,752,915 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	16	87,271,591 - 87,280,383 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	16	87,271,591 - 87,280,290	NCBI
Celera	16	73,813,753 - 73,822,552 (-)	NCBI		Celera
Cytogenetic Map	16	q24.2	NCBI
HuRef	16	74,438,454 - 74,447,255 (-)	NCBI		HuRef
CHM1_1	16	90,155,427 - 90,164,201 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	16	94,746,814 - 94,755,643 (-)	NCBI		T2T-CHM13v2.0

Snai3
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	8	123,180,943 - 123,187,546 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	8	123,180,947 - 123,187,472 (-)	Ensembl		GRCm39 Ensembl
GRCm38	8	122,454,204 - 122,460,809 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	8	122,454,208 - 122,460,733 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	8	124,978,106 - 124,984,592 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	8	125,340,296 - 125,346,782 (-)	NCBI		MGSCv36	mm8
Celera	8	126,683,317 - 126,689,803 (-)	NCBI		Celera
Cytogenetic Map	8	E1	NCBI
cM Map	8	71.07	NCBI

Snai3
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	19	67,425,311 - 67,437,830 (-)	NCBI		GRCr8
mRatBN7.2	19	50,516,771 - 50,529,295 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	19	50,516,771 - 50,523,486 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	19	57,311,968 - 57,318,658 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	19	57,991,700 - 57,998,415 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	19	60,210,589 - 60,217,281 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	19	55,276,211 - 55,290,031 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	19	55,277,549 - 55,284,663 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	19	65,987,197 - 65,999,302 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	19	52,742,687 - 52,749,406 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	19	52,748,224 - 52,758,577 (-)	NCBI
Celera	19	49,756,250 - 49,762,965 (-)	NCBI		Celera
Cytogenetic Map	19	q12	NCBI

Snai3
(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_004955541	2,593,351 - 2,599,175 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955541	2,593,530 - 2,599,105 (-)	NCBI	ChiLan1.0	ChiLan1.0

SNAI3
(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	18	98,450,841 - 98,460,023 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	16	104,362,977 - 104,371,850 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	16	69,390,929 - 69,400,971 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	16	89,050,883 - 89,059,704 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	16	89,051,479 - 89,059,704 (-)	Ensembl	panpan1.1		panPan2

SNAI3
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	5	64,661,122 - 64,668,589 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	5	64,661,190 - 64,667,690 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	5	64,672,369 - 64,681,055 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	5	64,881,091 - 64,889,785 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	5	64,881,047 - 64,887,087 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	5	64,907,276 - 64,915,954 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	5	64,738,829 - 64,747,685 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	5	65,145,011 - 65,153,705 (+)	NCBI		UU_Cfam_GSD_1.0

Snai3
(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_024409349	25,248,159 - 25,254,560 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936641	1,001,782 - 1,008,106 (+)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936641	1,001,788 - 1,007,970 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

SNAI3
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	6	988,990 - 996,247 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	6	988,975 - 996,268 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1

SNAI3
(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	5	74,062,241 - 74,071,840 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
Vero_WHO_p1.0	NW_023666047	1,616,290 - 1,625,285 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Snai3
(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_004624746	893,952 - 897,762 (+)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624746	891,212 - 897,743 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in SNAI3
20 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 16q23.1-24.3(chr16:78816291-90081985)x3	copy number gain	See cases [RCV000050840]	Chr16:78816291..90081985 [GRCh38] Chr16:78850188..90148393 [GRCh37] Chr16:77407689..88675894 [NCBI36] Chr16:16q23.1-24.3	pathogenic
GRCh38/hg38 16q22.1-24.3(chr16:70514631-90081985)x3	copy number gain	See cases [RCV000052422]	Chr16:70514631..90081985 [GRCh38] Chr16:70548534..90148393 [GRCh37] Chr16:69106035..88675894 [NCBI36] Chr16:16q22.1-24.3	pathogenic
GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3	copy number gain	See cases [RCV000052421]	Chr16:65313395..90081985 [GRCh38] Chr16:65347298..90148393 [GRCh37] Chr16:63904799..88675894 [NCBI36] Chr16:16q21-24.3	pathogenic
GRCh38/hg38 16q23.1-24.3(chr16:76873569-90081985)x3	copy number gain	See cases [RCV000052423]	Chr16:76873569..90081985 [GRCh38] Chr16:76907466..90148393 [GRCh37] Chr16:75464967..88675894 [NCBI36] Chr16:16q23.1-24.3	pathogenic
GRCh38/hg38 16q23.3-24.3(chr16:82173150-90081985)x3	copy number gain	See cases [RCV000052424]	Chr16:82173150..90081985 [GRCh38] Chr16:82206755..90148393 [GRCh37] Chr16:80764256..88675894 [NCBI36] Chr16:16q23.3-24.3	pathogenic
GRCh38/hg38 16q24.1-24.3(chr16:84707538-90081985)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052425]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052425]\|See cases [RCV000052425]	Chr16:84707538..90081985 [GRCh38] Chr16:84741144..90148393 [GRCh37] Chr16:83298645..88675894 [NCBI36] Chr16:16q24.1-24.3	pathogenic
GRCh38/hg38 16q24.2-24.3(chr16:87853401-90081985)x3	copy number gain	See cases [RCV000052428]	Chr16:87853401..90081985 [GRCh38] Chr16:87887007..90148393 [GRCh37] Chr16:86444508..88675894 [NCBI36] Chr16:16q24.2-24.3	pathogenic
GRCh38/hg38 16q24.2-24.3(chr16:88640116-89530475)x1	copy number loss	See cases [RCV000053380]	Chr16:88640116..89530475 [GRCh38] Chr16:88706524..89596883 [GRCh37] Chr16:87234025..88124384 [NCBI36] Chr16:16q24.2-24.3	pathogenic
GRCh38/hg38 16q24.2-24.3(chr16:88662702-89454555)x1	copy number loss	See cases [RCV000053381]	Chr16:88662702..89454555 [GRCh38] Chr16:88729110..89520963 [GRCh37] Chr16:87256611..88048464 [NCBI36] Chr16:16q24.2-24.3	pathogenic
GRCh38/hg38 16q24.2-24.3(chr16:87306529-89269079)x1	copy number loss	See cases [RCV000053362]	Chr16:87306529..89269079 [GRCh38] Chr16:87340135..89335487 [GRCh37] Chr16:85897636..87862988 [NCBI36] Chr16:16q24.2-24.3	pathogenic
GRCh38/hg38 16q24.2-24.3(chr16:88159660-89506042)x1	copy number loss	See cases [RCV000053363]	Chr16:88159660..89506042 [GRCh38] Chr16:88193266..89572450 [GRCh37] Chr16:86750767..88099951 [NCBI36] Chr16:16q24.2-24.3	pathogenic
GRCh38/hg38 16q23.3-24.3(chr16:83988570-90081985)x3	copy number gain	See cases [RCV000135659]	Chr16:83988570..90081985 [GRCh38] Chr16:84022175..90148393 [GRCh37] Chr16:82579676..88675894 [NCBI36] Chr16:16q23.3-24.3	likely pathogenic
GRCh38/hg38 16q23.2-24.3(chr16:80946659-90081985)x3	copy number gain	See cases [RCV000136898]	Chr16:80946659..90081985 [GRCh38] Chr16:80980556..90148393 [GRCh37] Chr16:79538057..88675894 [NCBI36] Chr16:16q23.2-24.3	pathogenic\|likely pathogenic
GRCh38/hg38 16q22.1-24.3(chr16:70749398-90096995)x3	copy number gain	See cases [RCV000137495]	Chr16:70749398..90096995 [GRCh38] Chr16:70783301..90163403 [GRCh37] Chr16:69340802..88690904 [NCBI36] Chr16:16q22.1-24.3	pathogenic
GRCh38/hg38 16q24.2-24.3(chr16:87848216-90096995)x3	copy number gain	See cases [RCV000138161]	Chr16:87848216..90096995 [GRCh38] Chr16:87881822..90163403 [GRCh37] Chr16:86439323..88690904 [NCBI36] Chr16:16q24.2-24.3	likely pathogenic
GRCh38/hg38 16q23.3-24.3(chr16:83478453-89932910)x3	copy number gain	See cases [RCV000137980]	Chr16:83478453..89932910 [GRCh38] Chr16:83512058..89999318 [GRCh37] Chr16:82069559..88526819 [NCBI36] Chr16:16q23.3-24.3	likely pathogenic
GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3	copy number gain	See cases [RCV000139426]	Chr16:65511483..90096995 [GRCh38] Chr16:65545386..90163403 [GRCh37] Chr16:64102887..88690904 [NCBI36] Chr16:16q21-24.3	pathogenic
GRCh38/hg38 16q23.1-24.3(chr16:75377981-90081992)x3	copy number gain	See cases [RCV000139302]	Chr16:75377981..90081992 [GRCh38] Chr16:75411879..90148400 [GRCh37] Chr16:73969380..88675901 [NCBI36] Chr16:16q23.1-24.3	pathogenic
GRCh38/hg38 16q24.2-24.3(chr16:88662702-88719577)x1	copy number loss	See cases [RCV000140351]	Chr16:88662702..88719577 [GRCh38] Chr16:88729110..88785985 [GRCh37] Chr16:87256611..87313486 [NCBI36] Chr16:16q24.2-24.3	benign
GRCh38/hg38 16q24.1-24.3(chr16:85552976-90096995)x3	copy number gain	See cases [RCV000139658]	Chr16:85552976..90096995 [GRCh38] Chr16:85586582..90163403 [GRCh37] Chr16:84144083..88690904 [NCBI36] Chr16:16q24.1-24.3	pathogenic
GRCh38/hg38 16q23.2-24.3(chr16:80717291-90096662)x3	copy number gain	See cases [RCV000141128]	Chr16:80717291..90096662 [GRCh38] Chr16:80751188..90163070 [GRCh37] Chr16:79308689..88690571 [NCBI36] Chr16:16q23.2-24.3	pathogenic
GRCh38/hg38 16q23.1-24.3(chr16:76336203-90088654)x3	copy number gain	See cases [RCV000141700]	Chr16:76336203..90088654 [GRCh38] Chr16:76370100..90155062 [GRCh37] Chr16:74927601..88682563 [NCBI36] Chr16:16q23.1-24.3	pathogenic
GRCh38/hg38 16q23.2-24.3(chr16:80067315-90057871)x3	copy number gain	See cases [RCV000142698]	Chr16:80067315..90057871 [GRCh38] Chr16:80101212..90124279 [GRCh37] Chr16:78658713..88651780 [NCBI36] Chr16:16q23.2-24.3	pathogenic
GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3	copy number gain	See cases [RCV000142578]	Chr16:64389378..90081985 [GRCh38] Chr16:64423281..90148393 [GRCh37] Chr16:62980782..88675894 [NCBI36] Chr16:16q21-24.3	pathogenic\|likely pathogenic
GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3	copy number gain	See cases [RCV000143425]	Chr16:52899183..90088654 [GRCh38] Chr16:52933095..90155062 [GRCh37] Chr16:51490596..88682563 [NCBI36] Chr16:16q12.2-24.3	pathogenic
GRCh38/hg38 16q24.1-24.3(chr16:86950106-89335814)x1	copy number loss	See cases [RCV000143624]	Chr16:86950106..89335814 [GRCh38] Chr16:86983712..89402222 [GRCh37] Chr16:85541213..87929723 [NCBI36] Chr16:16q24.1-24.3	pathogenic
GRCh37/hg19 16q23.1-24.3(chr16:74872514-90274440)x3	copy number gain	See cases [RCV000240108]	Chr16:74872514..90274440 [GRCh37] Chr16:16q23.1-24.3	pathogenic
t(5;16)(p15.31;q23.1)	translocation	not provided [RCV000203391]	Chr5:1..8180513 [GRCh37] Chr16:76935310..90354753 [GRCh37] Chr5:5p15.33-15.31 Chr16:16q23.1-24.3	likely pathogenic
Single allele	deletion	16q24.3 microdeletion syndrome [RCV000258442]	Chr16:88556191..89557911 [GRCh37] Chr16:16q24.2-24.3	pathogenic
Single allele	deletion	16q24.3 microdeletion syndrome [RCV000258457]	Chr16:88630607..89607742 [GRCh37] Chr16:16q24.2-24.3	pathogenic
Single allele	deletion	16q24.3 microdeletion syndrome [RCV000258180]	Chr16:88230961..89363602 [GRCh37] Chr16:16q24.2-24.3	pathogenic
Single allele	deletion	16q24.3 microdeletion syndrome [RCV000258201]	Chr16:88666177..89472627 [GRCh37] Chr16:16q24.2-24.3	pathogenic
Single allele	deletion	16q24.3 microdeletion syndrome [RCV000258213]	Chr16:88165980..88914268 [GRCh37] Chr16:16q24.2-24.3	pathogenic
Single allele	deletion	16q24.3 microdeletion syndrome [RCV000258230]	Chr16:87183661..89520803 [GRCh37] Chr16:16q24.2-24.3	pathogenic
Single allele	deletion	16q24.3 microdeletion syndrome [RCV000258283]	Chr16:88643461..89611494 [GRCh37] Chr16:16q24.2-24.3	pathogenic
Single allele	deletion	16q24.3 microdeletion syndrome [RCV000258311]	Chr16:88230760..89363742 [GRCh37] Chr16:16q24.2-24.3	pathogenic
Single allele	deletion	16q24.3 microdeletion syndrome [RCV000258380]	Chr16:87340135..89335428 [GRCh37] Chr16:16q24.2-24.3	pathogenic
GRCh37/hg19 16q11.2-24.3(chr16:46615804-90142285)x1	copy number loss	Breast ductal adenocarcinoma [RCV000207138]	Chr16:46615804..90142285 [GRCh37] Chr16:16q11.2-24.3	uncertain significance
GRCh37/hg19 16q22.2-24.3(chr16:72107834-90142285)x1	copy number loss	Breast ductal adenocarcinoma [RCV000207182]	Chr16:72107834..90142285 [GRCh37] Chr16:16q22.2-24.3	uncertain significance
Single allele	complex	Breast ductal adenocarcinoma [RCV000207314]	Chr16:56368689..90141355 [GRCh37] Chr16:16q12.2-24.3	uncertain significance
GRCh37/hg19 16q24.2-24.3(chr16:87687199-89304429)x3	copy number gain	See cases [RCV000240062]	Chr16:87687199..89304429 [GRCh37] Chr16:16q24.2-24.3	uncertain significance
GRCh37/hg19 16q24.2-24.3(chr16:88601532-89713753)x3	copy number gain	See cases [RCV000240352]	Chr16:88601532..89713753 [GRCh37] Chr16:16q24.2-24.3	uncertain significance
GRCh37/hg19 16q11.2-24.3(chr16:46464488-90155062)x3	copy number gain	See cases [RCV000446110]	Chr16:46464488..90155062 [GRCh37] Chr16:16q11.2-24.3	pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	copy number gain	See cases [RCV000446684]	Chr16:69193..90274381 [GRCh37] Chr16:16p13.3-q24.3	pathogenic
GRCh37/hg19 16q24.2-24.3(chr16:87219866-89561087)x1	copy number loss	not provided [RCV000509325]	Chr16:87219866..89561087 [GRCh37] Chr16:16q24.2-24.3	not provided
GRCh37/hg19 16q24.2-24.3(chr16:88104077-88958038)x3	copy number gain	See cases [RCV000510568]	Chr16:88104077..88958038 [GRCh37] Chr16:16q24.2-24.3	likely benign
GRCh37/hg19 16q24.2-24.3(chr16:88116155-89524926)x1	copy number loss	See cases [RCV000511455]	Chr16:88116155..89524926 [GRCh37] Chr16:16q24.2-24.3	pathogenic
GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3	copy number gain	See cases [RCV000511622]	Chr16:9273328..89548493 [GRCh37] Chr16:16p13.2-q24.3	uncertain significance
GRCh37/hg19 16q24.2-24.3(chr16:88445490-89319419)x3	copy number gain	See cases [RCV000511531]	Chr16:88445490..89319419 [GRCh37] Chr16:16q24.2-24.3	uncertain significance
GRCh37/hg19 16q24.1-24.3(chr16:84937273-89836905)x4	copy number gain	See cases [RCV000511606]	Chr16:84937273..89836905 [GRCh37] Chr16:16q24.1-24.3	likely pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	copy number gain	See cases [RCV000511296]	Chr16:85881..90155062 [GRCh37] Chr16:16p13.3-q24.3	pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	copy number gain	See cases [RCV000512138]	Chr16:85881..90155062 [GRCh37] Chr16:16p13.3-q24.3	pathogenic
GRCh37/hg19 16q11.2-24.3(chr16:46497599-90354753)x1	copy number loss	Poly (ADP-Ribose) polymerase inhibitor response [RCV000626429]	Chr16:46497599..90354753 [GRCh37] Chr16:16q11.2-24.3	drug response
GRCh37/hg19 16q11.2-24.3(chr16:46455960-90354753)x1	copy number loss	Poly (ADP-Ribose) polymerase inhibitor response [RCV000626435]	Chr16:46455960..90354753 [GRCh37] Chr16:16q11.2-24.3	drug response
GRCh37/hg19 16q13-24.3(chr16:57051473-89797669)x3	copy number gain	See cases [RCV000512511]	Chr16:57051473..89797669 [GRCh37] Chr16:16q13-24.3	pathogenic
GRCh37/hg19 16q24.1-24.3(chr16:85838574-90155062)x3	copy number gain	See cases [RCV000512440]	Chr16:85838574..90155062 [GRCh37] Chr16:16q24.1-24.3	pathogenic
GRCh37/hg19 16q23.3-24.3(chr16:83001540-90155062)x3	copy number gain	See cases [RCV000512468]	Chr16:83001540..90155062 [GRCh37] Chr16:16q23.3-24.3	likely pathogenic
Single allele	deletion	not provided [RCV000677910]	Chr16:86890893..89398630 [GRCh37] Chr16:16q24.1-24.3	pathogenic
GRCh37/hg19 16q23.2-24.3(chr16:79400436-90155062)x3	copy number gain	not provided [RCV000683845]	Chr16:79400436..90155062 [GRCh37] Chr16:16q23.2-24.3	pathogenic
GRCh37/hg19 16q22.2-24.3(chr16:72515938-90155062)x3	copy number gain	not provided [RCV000683831]	Chr16:72515938..90155062 [GRCh37] Chr16:16q22.2-24.3	pathogenic
GRCh37/hg19 16q24.2-24.3(chr16:88317240-89079407)x3	copy number gain	not provided [RCV000709990]	Chr16:88317240..89079407 [GRCh37] Chr16:16q24.2-24.3	not provided
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90163275)x3	copy number gain	not provided [RCV000738917]	Chr16:88165..90163275 [GRCh37] Chr16:16p13.3-q24.3	pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90274695)x3	copy number gain	not provided [RCV000738918]	Chr16:88165..90274695 [GRCh37] Chr16:16p13.3-q24.3	pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:61451-90294632)x3	copy number gain	not provided [RCV000738915]	Chr16:61451..90294632 [GRCh37] Chr16:16p13.3-q24.3	pathogenic
GRCh37/hg19 16q24.3(chr16:88713533-88799238)x1	copy number loss	not provided [RCV000751821]	Chr16:88713533..88799238 [GRCh37] Chr16:16q24.3	benign
GRCh37/hg19 16q23.3-24.3(chr16:82761333-90055381)	copy number gain	not provided [RCV000767619]	Chr16:82761333..90055381 [GRCh37] Chr16:16q23.3-24.3	pathogenic
GRCh37/hg19 16q24.2-24.3(chr16:88453448-89569215)x1	copy number loss	not provided [RCV000847422]	Chr16:88453448..89569215 [GRCh37] Chr16:16q24.2-24.3	pathogenic
GRCh37/hg19 16q24.2-24.3(chr16:88697092-88791148)x1	copy number loss	not provided [RCV000846887]	Chr16:88697092..88791148 [GRCh37] Chr16:16q24.2-24.3	uncertain significance
GRCh37/hg19 16q24.2-24.3(chr16:87848902-88809407)x3	copy number gain	not provided [RCV000849210]	Chr16:87848902..88809407 [GRCh37] Chr16:16q24.2-24.3	uncertain significance
GRCh37/hg19 16q24.2-24.3(chr16:88697181-88809407)x1	copy number loss	not provided [RCV002473721]	Chr16:88697181..88809407 [GRCh37] Chr16:16q24.2-24.3	uncertain significance
GRCh37/hg19 16q21-24.3(chr16:61524229-90155062)x3	copy number gain	not provided [RCV001249359]	Chr16:61524229..90155062 [GRCh37] Chr16:16q21-24.3	not provided
GRCh37/hg19 16q24.2-24.3(chr16:88222732-90155062)x3	copy number gain	not provided [RCV001258663]	Chr16:88222732..90155062 [GRCh37] Chr16:16q24.2-24.3	uncertain significance
NC_000016.9:g.(?_88709737)_(89220635_?)del	deletion	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001388209]	Chr16:88709737..89220635 [GRCh37] Chr16:16q24.3	pathogenic
NC_000016.9:g.(?_87636753)_(90109753_?)dup	duplication	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV003119313]\|Primary ciliary dyskinesia 33 [RCV003109228]	Chr16:87636753..90109753 [GRCh37] Chr16:16q24.2-24.3	uncertain significance
GRCh37/hg19 16q23.2-24.3(chr16:80386595-90163348)x3	copy number gain	not provided [RCV001795551]	Chr16:80386595..90163348 [GRCh37] Chr16:16q23.2-24.3	pathogenic
GRCh37/hg19 16q24.2-24.3(chr16:88000389-90155062)x3	copy number gain	not provided [RCV001829158]	Chr16:88000389..90155062 [GRCh37] Chr16:16q24.2-24.3	uncertain significance
NC_000016.9:g.(?_88709761)_(89623501_?)dup	duplication	Hereditary spastic paraplegia 7 [RCV002020725]	Chr16:88709761..89623501 [GRCh37] Chr16:16q24.3	uncertain significance
NC_000016.9:g.(?_87636753)_(89723996_?)dup	duplication	Mucopolysaccharidosis, MPS-IV-A [RCV001939908]	Chr16:87636753..89723996 [GRCh37] Chr16:16q24.2-24.3	uncertain significance
GRCh37/hg19 16q11.2-24.3(chr16:46503968-90155062)x3	copy number gain	not provided [RCV002221458]	Chr16:46503968..90155062 [GRCh37] Chr16:16q11.2-24.3	pathogenic
NC_000016.9:g.88365786_89584412del1218627	deletion	KBG syndrome [RCV002275248]	Chr16:88365786..89584412 [GRCh37] Chr16:16q24.2-24.3	pathogenic
GRCh37/hg19 16q22.2-24.3(chr16:71641395-90161959)x3	copy number gain	Syndromic anorectal malformation [RCV002286607]	Chr16:71641395..90161959 [GRCh37] Chr16:16q22.2-24.3	likely pathogenic
NM_178310.4(SNAI3):c.268G>T (p.Val90Phe)	single nucleotide variant	Inborn genetic diseases [RCV002772408]	Chr16:88681523 [GRCh38] Chr16:88747931 [GRCh37] Chr16:16q24.2	uncertain significance
NM_178310.4(SNAI3):c.562T>A (p.Cys188Ser)	single nucleotide variant	Inborn genetic diseases [RCV002859685]	Chr16:88681229 [GRCh38] Chr16:88747637 [GRCh37] Chr16:16q24.2	uncertain significance
NM_178310.4(SNAI3):c.19G>C (p.Val7Leu)	single nucleotide variant	Inborn genetic diseases [RCV003004668]	Chr16:88686388 [GRCh38] Chr16:88752796 [GRCh37] Chr16:16q24.2	uncertain significance
NM_178310.4(SNAI3):c.74G>C (p.Arg25Thr)	single nucleotide variant	Inborn genetic diseases [RCV002984888]	Chr16:88686333 [GRCh38] Chr16:88752741 [GRCh37] Chr16:16q24.2	uncertain significance
NM_178310.4(SNAI3):c.332A>T (p.His111Leu)	single nucleotide variant	Inborn genetic diseases [RCV002742755]	Chr16:88681459 [GRCh38] Chr16:88747867 [GRCh37] Chr16:16q24.2	uncertain significance
NM_178310.4(SNAI3):c.544G>C (p.Val182Leu)	single nucleotide variant	Inborn genetic diseases [RCV002712747]	Chr16:88681247 [GRCh38] Chr16:88747655 [GRCh37] Chr16:16q24.2	uncertain significance
NM_178310.4(SNAI3):c.277G>A (p.Val93Ile)	single nucleotide variant	Inborn genetic diseases [RCV002803551]	Chr16:88681514 [GRCh38] Chr16:88747922 [GRCh37] Chr16:16q24.2	uncertain significance
NM_178310.4(SNAI3):c.163C>A (p.Leu55Ile)	single nucleotide variant	Inborn genetic diseases [RCV002940119]	Chr16:88681628 [GRCh38] Chr16:88748036 [GRCh37] Chr16:16q24.2	uncertain significance
NM_178310.4(SNAI3):c.433A>G (p.Met145Val)	single nucleotide variant	Inborn genetic diseases [RCV003201063]	Chr16:88681358 [GRCh38] Chr16:88747766 [GRCh37] Chr16:16q24.2	uncertain significance
NM_178310.4(SNAI3):c.42G>C (p.Arg14Ser)	single nucleotide variant	Inborn genetic diseases [RCV003205421]	Chr16:88686365 [GRCh38] Chr16:88752773 [GRCh37] Chr16:16q24.2	uncertain significance
NM_178310.4(SNAI3):c.232G>A (p.Glu78Lys)	single nucleotide variant	Inborn genetic diseases [RCV003211492]	Chr16:88681559 [GRCh38] Chr16:88747967 [GRCh37] Chr16:16q24.2	uncertain significance
NM_178310.4(SNAI3):c.601C>T (p.His201Tyr)	single nucleotide variant	Inborn genetic diseases [RCV003196107]	Chr16:88681190 [GRCh38] Chr16:88747598 [GRCh37] Chr16:16q24.2	uncertain significance
NM_178310.4(SNAI3):c.182G>A (p.Arg61His)	single nucleotide variant	Inborn genetic diseases [RCV003216122]	Chr16:88681609 [GRCh38] Chr16:88748017 [GRCh37] Chr16:16q24.2	uncertain significance
NM_178310.4(SNAI3):c.286C>T (p.Arg96Trp)	single nucleotide variant	Inborn genetic diseases [RCV003342166]	Chr16:88681505 [GRCh38] Chr16:88747913 [GRCh37] Chr16:16q24.2	likely benign
NM_178310.4(SNAI3):c.38A>G (p.His13Arg)	single nucleotide variant	Inborn genetic diseases [RCV003378622]	Chr16:88686369 [GRCh38] Chr16:88752777 [GRCh37] Chr16:16q24.2	uncertain significance
NM_178310.4(SNAI3):c.280G>A (p.Asp94Asn)	single nucleotide variant	Inborn genetic diseases [RCV003343016]	Chr16:88681511 [GRCh38] Chr16:88747919 [GRCh37] Chr16:16q24.2	uncertain significance
NM_178310.4(SNAI3):c.70C>G (p.Gln24Glu)	single nucleotide variant	Inborn genetic diseases [RCV003374116]	Chr16:88686337 [GRCh38] Chr16:88752745 [GRCh37] Chr16:16q24.2	uncertain significance
NM_178310.4(SNAI3):c.131G>A (p.Arg44Gln)	single nucleotide variant	Inborn genetic diseases [RCV003349163]	Chr16:88681660 [GRCh38] Chr16:88748068 [GRCh37] Chr16:16q24.2	likely benign
GRCh37/hg19 16q24.2-24.3(chr16:88647290-88859285)x1	copy number loss	not provided [RCV003483306]	Chr16:88647290..88859285 [GRCh37] Chr16:16q24.2-24.3	uncertain significance
GRCh37/hg19 16q24.2-24.3(chr16:88067200-89460290)x1	copy number loss	not provided [RCV003483304]	Chr16:88067200..89460290 [GRCh37] Chr16:16q24.2-24.3	pathogenic
Single allele	deletion	KBG syndrome [RCV003388955]	Chr16:88621654..89376245 [GRCh38] Chr16:16q24.2-24.3	pathogenic
Single allele	deletion	KBG syndrome [RCV003388954]	Chr16:88197484..89331695 [GRCh38] Chr16:16q24.2-24.3	pathogenic
Single allele	deletion	KBG syndrome [RCV003388953]	Chr16:87169884..89487487 [GRCh38] Chr16:16q24.2-24.3	pathogenic
GRCh37/hg19 16q24.2-24.3(chr16:88153961-89104917)x1	copy number loss	not specified [RCV003987173]	Chr16:88153961..89104917 [GRCh37] Chr16:16q24.2-24.3	uncertain significance
GRCh37/hg19 16q24.2-24.3(chr16:88445361-88818583)x3	copy number gain	not specified [RCV003987174]	Chr16:88445361..88818583 [GRCh37] Chr16:16q24.2-24.3	uncertain significance
GRCh37/hg19 16q24.2-24.3(chr16:87866576-89424113)x1	copy number loss	not provided [RCV003885482]	Chr16:87866576..89424113 [GRCh37] Chr16:16q24.2-24.3	pathogenic

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	474
Count of miRNA genes:	387
Interacting mature miRNAs:	415
Transcripts:	ENST00000332281
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.

Expression

RNA-SEQ Expression

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

alimentary part of gastrointestinal system

circulatory system

endocrine system

exocrine system

hemolymphoid system

hepatobiliary system

integumental system

musculoskeletal system

nervous system

renal system

reproductive system

respiratory system

sensory system

visual system

adipose tissue

appendage

entire extraembryonic component

pharyngeal arch

High

Medium

615

915

308

200

193

Low

2149

1906

1545

500

1011

341

3394

1754

3529

348

1391

1517

171

1115

2189

Below cutoff

232

468

170

122

123

643

233

181

403

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_178310	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AC138028	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC041461	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC107058	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471184	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068262	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

RefSeq Acc Id:

ENST00000332281 ⟹ ENSP00000327968

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	88,677,688 - 88,686,507 (-)	Ensembl

RefSeq Acc Id:

NM_178310 ⟹ NP_840101

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	16	88,677,688 - 88,686,507 (-)	NCBI
GRCh37	16	88,744,090 - 88,753,192 (-)	NCBI
Build 36	16	87,271,591 - 87,280,383 (-)	NCBI Archive
Celera	16	73,813,753 - 73,822,552 (-)	RGD
HuRef	16	74,438,454 - 74,447,255 (-)	RGD
CHM1_1	16	90,155,427 - 90,164,201 (-)	NCBI
T2T-CHM13v2.0	16	94,746,814 - 94,755,643 (-)	NCBI

Sequence:

show sequence

AATGAGCCTGACCCCTTCAAGCGCCGGCGGACGCAGCAGTCCGGACCCAGGCGCGCCCCTCCCG
CCCCAGCCCACCCCGGCCTGCCGCCCGGGAGGGGAACATGCCGCGCTCCTTCCTGGTGAAAACG
CACTCCAGCCACAGGGTCCCCAACTACCGGCGGCTGGAGACGCAGAGAGAAATCAATGGTGCCT
GCTCTGCCTGTGGGGGGCTGGTGGTGCCCCTCCTCCCCCGAGACAAGGAGGCCCCTTCTGTGCC
CGGTGACCTTCCCCAGCCCTGGGACCGCTCCTCGGCCGTCGCCTGCATCTCCCTGCCCCTCCTG
CCACGGATCGAGGAAGCTCTGGGGGCCTCTGGGCTGGACGCCTTGGAAGTCAGCGAGGTCGACC
CTCGGGCCAGCCGGGCCGCCATTGTACCCCTCAAAGACAGCCTGAACCACCTCAACCTGCCCCC
ACTGCTGGTGCTGCCCACACGGTGGTCCCCGACCTTGGGCCCAGACCGGCACGGGGCTCCGGAA
AAACTGCTTGGGGCTGAGCGGATGCCCCGAGCCCCGGGCGGCTTTGAGTGCTTCCACTGCCACA
AACCCTACCACACGCTGGCCGGGCTGGCCAGGCACCGGCAGCTGCACTGCCACCTGCAGGTGGG
GCGTGTCTTCACCTGCAAGTACTGCGACAAGGAGTACACCAGCCTGGGTGCCCTCAAGATGCAC
ATCCGCACTCACACGCTGCCCTGCACCTGCAAGATCTGTGGCAAGGCCTTCTCCAGGCCCTGGT
TACTGCAGGGCCATGTCCGCACCCACACAGGGGAGAAGCCCTATGCCTGCTCGCACTGCAGCAG
GGCCTTTGCCGACCGCTCCAACCTTCGGGCCCATCTGCAAACGCACTCAGACGCCAAGAAGTAC
CGGTGCCGGCGCTGCACCAAGACCTTCTCCCGCATGTCCCTCCTGGCGCGGCATGAGGAGTCTG
GCTGCTGCCCGGGCCCCTGAGAGGCACGTGGTCGGCGCAGGTAGGAGGGATGGTCCTCACCGGG
AGAGCTGGCGTCCCTCCTGCCCCCAGAGGAGCCAGGAGTCTGGGAGGGCGGGGCCTGGCCTCAC
ACTTGGTGCGTCCTCCACATCTGCGTCCAATCAGAACCAAAGAAGTCCAGCGGGGGCCACTGGG
CCGGAGGACACTCCCCCAGGCATCCCACCGCGCGGAGCCCACTCAGAGGAGACTCCTCTCCCGG
GGAAGGCTTTCATCAGAACAAGAGCCATGGTTCCATTTCGACACGGCCAGGTCTCCGGGGCTAC
CCTTCCAAGAGTCAGAGCCTCGGGGAGGTGGCCGCCAGCATGGGCCGGCACTGCCGCCGGATGG
CTGGCAAGGCTGCCTAGTTCCATTGCAGCAGAAATGAACAGTTCTGACTTATAGTGAGCACCGC
CCTGTGGCCCTTCCTCAGTAGGCACAACTACCTCTCAGCCAGCCCCCGCCAGCCTTTGGTTTGG
GGTCTGGGACGAGCTGCCCCATGTCACACGTCTATGTGCATGTGCACACACACTCAAACATGTA
CACACACGTGCCCTCCCCACCTCACTAGACTCTCCGGGAGATGGGGCAGGACTGGGAGAGCCCA
CGATTGGTGATTTGGGTGTGTTGGGATGAGGCGGAGTGCCTGTGGGATTTGTCCCGGTCAGAGC
CTCAGGGGGCTGGGGTCTCAGGGCACTCAGCTTCCCAGGCAATAACAGCCGTGGGGTAATAAAT
GGTCTCTGCACA

hide sequence

Protein Sequences


Protein RefSeqs	NP_840101	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAH41461	(Get FASTA)	NCBI Sequence Viewer
	AAI07059	(Get FASTA)	NCBI Sequence Viewer
	EAW66765	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000327968
	ENSP00000327968.5
GenBank Protein	Q3KNW1	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:

NP_840101 ⟸ NM_178310

- UniProtKB:

Q86SU5 (UniProtKB/Swiss-Prot), Q3KNW1 (UniProtKB/Swiss-Prot)

- Sequence:

show sequence

MPRSFLVKTHSSHRVPNYRRLETQREINGACSACGGLVVPLLPRDKEAPSVPGDLPQPWDRSSA
VACISLPLLPRIEEALGASGLDALEVSEVDPRASRAAIVPLKDSLNHLNLPPLLVLPTRWSPTL
GPDRHGAPEKLLGAERMPRAPGGFECFHCHKPYHTLAGLARHRQLHCHLQVGRVFTCKYCDKEY
TSLGALKMHIRTHTLPCTCKICGKAFSRPWLLQGHVRTHTGEKPYACSHCSRAFADRSNLRAHL
QTHSDAKKYRCRRCTKTFSRMSLLARHEESGCCPGP

hide sequence

RefSeq Acc Id:

ENSP00000327968 ⟸ ENST00000332281

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q3KNW1-F1-model_v2	AlphaFold	Q3KNW1	1-292	view protein structure

Promoters

RGD ID:

6793463

Promoter ID:

HG_KWN:24464

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell, CD4+TCell_12Hour, CD4+TCell_2Hour, HeLa_S3, K562, Lymphoblastoid, NB4

Transcripts:

NM_178310

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	16	87,279,916 - 87,280,892 (-)	MPROMDB

RGD ID:

7233115

Promoter ID:

EPDNEW_H22303

Type:

initiation region

Name:

SNAI3_1

Description:

snail family transcriptional repressor 3

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	16	88,686,465 - 88,686,525	EPDNEW

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:18411	AgrOrtholog
COSMIC	SNAI3	COSMIC
Ensembl Genes	ENSG00000185669	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000332281	ENTREZGENE
	ENST00000332281.6	UniProtKB/Swiss-Prot
Gene3D-CATH	Classic Zinc Finger	UniProtKB/Swiss-Prot
GTEx	ENSG00000185669	GTEx
HGNC ID	HGNC:18411	ENTREZGENE
Human Proteome Map	SNAI3	Human Proteome Map
InterPro	Cu_oxidase_Cu_BS	UniProtKB/Swiss-Prot
	Znf_C2H2_sf	UniProtKB/Swiss-Prot
	Znf_C2H2_type	UniProtKB/Swiss-Prot
KEGG Report	hsa:333929	UniProtKB/Swiss-Prot
NCBI Gene	333929	ENTREZGENE
OMIM	612741	OMIM
PANTHER	ZINC FINGER PROTEIN	UniProtKB/Swiss-Prot
	ZINC FINGER PROTEIN SNAI3	UniProtKB/Swiss-Prot
Pfam	zf-C2H2	UniProtKB/Swiss-Prot
PharmGKB	PA134988226	PharmGKB
PROSITE	ZINC_FINGER_C2H2_1	UniProtKB/Swiss-Prot
	ZINC_FINGER_C2H2_2	UniProtKB/Swiss-Prot
SMART	ZnF_C2H2	UniProtKB/Swiss-Prot
Superfamily-SCOP	SSF57667	UniProtKB/Swiss-Prot
UniProt	Q3KNW1	ENTREZGENE
	Q86SU5	ENTREZGENE
	SNAI3_HUMAN	UniProtKB/Swiss-Prot
UniProt Secondary	Q86SU5	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2016-05-10	SNAI3	snail family transcriptional repressor 3	SNAI3	snail family zinc finger 3	Symbol and/or name change	5135510	APPROVED
2013-06-04	SNAI3	snail family zinc finger 3	SNAI3	snail homolog 3 (Drosophila)	Symbol and/or name change	5135510	APPROVED

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

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

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

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

Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

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Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD