SIVA1 (SIVA1 apoptosis inducing factor)

Gene: SIVA1 (SIVA1 apoptosis inducing factor) Homo sapiens

Analyze

Symbol:

SIVA1

Name:

SIVA1 apoptosis inducing factor

RGD ID:

1603317

HGNC Page

HGNC:17712

Description:

Enables CD27 receptor binding activity and zinc ion binding activity. Involved in activation-induced cell death of T cells; apoptotic signaling pathway; and positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway. Located in mitochondrion and nucleoplasm.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

apoptosis regulatory protein Siva; CD27-binding (Siva) protein; CD27-binding protein; CD27BP; SIVA; Siva-1; Siva-2; SIVA1, apoptosis-inducing factor

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	14	104,753,147 - 104,759,654 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	14	104,753,147 - 104,768,494 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	14	105,219,484 - 105,225,991 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	14	104,290,515 - 104,297,041 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	14	85,274,542 - 85,281,070 (+)	NCBI		Celera
Cytogenetic Map	14	q32.33	NCBI
HuRef	14	85,416,458 - 85,422,986 (+)	NCBI		HuRef
CHM1_1	14	105,157,086 - 105,163,614 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	14	98,996,033 - 99,002,540 (+)	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

Charcot-Marie-Tooth disease axonal type 2O (IAGP)

Coxsackievirus Infections (EXP)

focal segmental glomerulosclerosis 5 (IAGP)

genetic disease (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

(+)-catechin (EXP)

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

(S)-nicotine (EXP)

1,2-dimethylhydrazine (ISO)

17alpha-ethynylestradiol (ISO)

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

2,6-dinitrotoluene (ISO)

2-hydroxypropanoic acid (EXP)

3-methylcholanthrene (ISO)

acetamide (ISO)

acrolein (EXP)

aflatoxin B1 (ISO)

alpha-pinene (EXP)

amiodarone (ISO)

Aroclor 1254 (ISO)

arsane (EXP)

arsenic atom (EXP)

arsenite(3-) (EXP)

beauvericin (EXP)

benzo[a]pyrene (EXP,ISO)

bis(2-ethylhexyl) phthalate (EXP)

bisphenol A (EXP,ISO)

bortezomib (EXP)

butan-1-ol (EXP)

calcitriol (EXP)

cannabidiol (EXP)

carbon nanotube (ISO)

CGP 52608 (EXP)

chloroacetaldehyde (EXP)

choline (ISO)

chromium(6+) (ISO)

cidofovir anhydrous (EXP)

ciguatoxin CTX1B (ISO)

cisplatin (EXP)

clodronic acid (EXP)

cobalt dichloride (EXP)

cocaine (ISO)

copper(II) sulfate (EXP)

crocidolite asbestos (ISO)

cyclosporin A (EXP,ISO)

dicrotophos (EXP)

diethylstilbestrol (ISO)

dioxygen (EXP)

endosulfan (ISO)

fenofibrate (ISO)

fipronil (ISO)

folic acid (ISO)

gentamycin (ISO)

ifosfamide (EXP)

inulin (ISO)

isoprenaline (ISO)

L-methionine (ISO)

lead(0) (EXP)

metformin (ISO)

methyl methanesulfonate (EXP)

mitomycin C (ISO)

nicotine (EXP)

oxaliplatin (ISO)

ozone (EXP,ISO)

paracetamol (EXP,ISO)

perfluorooctane-1-sulfonic acid (ISO)

phenobarbital (EXP,ISO)

pirinixic acid (ISO)

piroxicam (EXP)

rac-lactic acid (EXP)

sodium arsenite (EXP,ISO)

testosterone (EXP,ISO)

tetrachloromethane (ISO)

toluene (ISO)

topotecan (ISO)

trimellitic anhydride (ISO)

tungsten (ISO)

urethane (EXP)

valproic acid (EXP,ISO)

vincristine (EXP)

zinc atom (EXP)

zinc(0) (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

activation-induced cell death of T cells (IDA)

apoptotic process (IEA)

extrinsic apoptotic signaling pathway (IBA,IDA,IEA)

intrinsic apoptotic signaling pathway (IDA)

positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (IDA)

symbiont entry into host cell (IEA)

Cellular Component

cytoplasm (IDA,IEA)

mitochondrion (IDA)

nucleoplasm (IDA)

nucleus (IEA)

Molecular Function

2 iron, 2 sulfur cluster binding (IEA)

CD27 receptor binding (IBA,IEA,IPI)

metal ion binding (IEA)

protein binding (IPI)

tumor necrosis factor receptor binding (IEA)

virus receptor activity (IEA,ISS)

zinc ion 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:8125298	PMID:9177220	PMID:10756043	PMID:11278261	PMID:11601913	PMID:11920585	PMID:12011449	PMID:12477932	PMID:12478477	PMID:14702039	PMID:14739602	PMID:15034012
PMID:15105421	PMID:15489334	PMID:15958577	PMID:16169070	PMID:16491128	PMID:16683188	PMID:17207965	PMID:17348035	PMID:17653867	PMID:17965021	PMID:18330885	PMID:18849585
PMID:19293149	PMID:19392652	PMID:19460752	PMID:19584092	PMID:19590512	PMID:19953087	PMID:20727854	PMID:20934406	PMID:21048035	PMID:21768358	PMID:21832049	PMID:21873635
PMID:21955384	PMID:21988832	PMID:22343716	PMID:23462994	PMID:24958773	PMID:25374190	PMID:25431847	PMID:25813352	PMID:26406409	PMID:26496610	PMID:26497317	PMID:26598620
PMID:26972000	PMID:27773928	PMID:28986522	PMID:30363057	PMID:31669268	PMID:32015347	PMID:32296183	PMID:32329870	PMID:32393512	PMID:32626967	PMID:36307991	PMID:37303491

Genomics

Comparative Map Data

SIVA1
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	14	104,753,147 - 104,759,654 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	14	104,753,147 - 104,768,494 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	14	105,219,484 - 105,225,991 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	14	104,290,515 - 104,297,041 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	14	85,274,542 - 85,281,070 (+)	NCBI		Celera
Cytogenetic Map	14	q32.33	NCBI
HuRef	14	85,416,458 - 85,422,986 (+)	NCBI		HuRef
CHM1_1	14	105,157,086 - 105,163,614 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	14	98,996,033 - 99,002,540 (+)	NCBI		T2T-CHM13v2.0

Siva1
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	12	112,611,262 - 112,615,586 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	12	112,611,113 - 112,615,583 (+)	Ensembl		GRCm39 Ensembl
GRCm38	12	112,644,828 - 112,649,152 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	12	112,644,679 - 112,649,149 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	12	113,883,039 - 113,887,363 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	12	113,092,716 - 113,096,953 (+)	NCBI		MGSCv36	mm8
Celera	12	113,858,455 - 113,862,779 (+)	NCBI		Celera
Cytogenetic Map	12	F1	NCBI
cM Map	12	61.2	NCBI

Siva1
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	6	137,526,416 - 137,530,790 (+)	NCBI		GRCr8
mRatBN7.2	6	131,705,323 - 131,709,697 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	6	131,705,323 - 131,709,690 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	6	131,874,637 - 131,879,016 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	6	132,171,743 - 132,176,118 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	6	131,534,212 - 131,538,589 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	6	137,209,999 - 137,214,379 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	6	137,210,052 - 137,214,388 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	6	146,216,931 - 146,221,556 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	6	137,631,408 - 137,635,724 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
Celera	6	129,253,021 - 129,257,273 (+)	NCBI		Celera
Cytogenetic Map	6	q32	NCBI

Siva1
(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_004955538	3,197,983 - 3,202,782 (+)	NCBI	ChiLan1.0	ChiLan1.0

SIVA1
(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	15	105,935,284 - 105,941,823 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	14	105,151,787 - 105,158,327 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	14	85,404,148 - 85,408,254 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	14	105,196,118 - 105,202,678 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	14	105,196,118 - 105,202,678 (+)	Ensembl	panpan1.1		panPan2

SIVA1
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	8	72,309,400 - 72,313,726 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	8	72,309,447 - 72,313,640 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	8	71,815,163 - 71,819,494 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	8	72,584,386 - 72,588,709 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	8	72,583,252 - 72,588,623 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	8	72,267,010 - 72,271,332 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	8	72,310,264 - 72,314,586 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	8	72,709,843 - 72,714,165 (+)	NCBI		UU_Cfam_GSD_1.0

Siva1
(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_024408640	1,812,507 - 1,821,101 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936621	644,852 - 650,132 (-)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936621	641,456 - 650,067 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

SIVA1
(Sus scrofa - pig)

No map positions available.

SIVA1
(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	24	82,689,233 - 82,695,073 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	24	82,689,254 - 82,695,146 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666053	70,110,198 - 70,116,322 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Siva1
(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 1.0	NW_004624734	530,711 - 535,281 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in SIVA1
15 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh37/hg19 14q32.31-32.33(chr14:102931119-107285437)x1	copy number loss	not provided [RCV000847188]	Chr14:102931119..107285437 [GRCh37] Chr14:14q32.31-32.33	pathogenic
GRCh38/hg38 14q32.2-32.33(chr14:100309382-106855263)x1	copy number loss	See cases [RCV000050938]	Chr14:100309382..106855263 [GRCh38] Chr14:100775719..107263478 [GRCh37] Chr14:99845472..106334523 [NCBI36] Chr14:14q32.2-32.33	pathogenic
GRCh38/hg38 14q32.2-32.33(chr14:97938637-106855263)x1	copy number loss	See cases [RCV000050696]	Chr14:97938637..106855263 [GRCh38] Chr14:98404974..107263478 [GRCh37] Chr14:97474727..106334523 [NCBI36] Chr14:14q32.2-32.33	pathogenic
GRCh38/hg38 14q32.31-32.33(chr14:101994084-106855405)x1	copy number loss	See cases [RCV000051578]	Chr14:101994084..106855405 [GRCh38] Chr14:102460421..107263620 [GRCh37] Chr14:101530174..106334665 [NCBI36] Chr14:14q32.31-32.33	pathogenic
GRCh38/hg38 14q32.31-32.33(chr14:102584963-104898605)x1	copy number loss	See cases [RCV000051580]	Chr14:102584963..104898605 [GRCh38] Chr14:103051300..105364942 [GRCh37] Chr14:102121053..104435987 [NCBI36] Chr14:14q32.31-32.33	pathogenic
GRCh38/hg38 14q32.33(chr14:103784758-106870558)x1	copy number loss	See cases [RCV000051581]	Chr14:103784758..106870558 [GRCh38] Chr14:104251095..107278770 [GRCh37] Chr14:103320848..106349815 [NCBI36] Chr14:14q32.33	pathogenic
GRCh38/hg38 14q32.2-32.33(chr14:100590353-106855264)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051553]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051553]\|See cases [RCV000051553]	Chr14:100590353..106855264 [GRCh38] Chr14:101056690..107263479 [GRCh37] Chr14:100126443..106334524 [NCBI36] Chr14:14q32.2-32.33	pathogenic
GRCh38/hg38 14q32.2-32.33(chr14:100808300-106855263)x1	copy number loss	See cases [RCV000051113]	Chr14:100808300..106855263 [GRCh38] Chr14:101274637..107263478 [GRCh37] Chr14:100344390..106334523 [NCBI36] Chr14:14q32.2-32.33	pathogenic
GRCh38/hg38 14q31.3-32.33(chr14:86094030-106832642)x3	copy number gain	See cases [RCV000052295]	Chr14:86094030..106832642 [GRCh38] Chr14:86560374..107240869 [GRCh37] Chr14:85630127..106311914 [NCBI36] Chr14:14q31.3-32.33	pathogenic
GRCh38/hg38 14q32.13-32.33(chr14:94628219-106451054)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052298]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052298]\|See cases [RCV000052298]	Chr14:94628219..106451054 [GRCh38] Chr14:95094556..106906960 [GRCh37] Chr14:94164309..105978005 [NCBI36] Chr14:14q32.13-32.33	pathogenic
GRCh38/hg38 14q32.33(chr14:104309234-104898546)x3	copy number gain	See cases [RCV000052101]	Chr14:104309234..104898546 [GRCh38] Chr14:104775571..105364883 [GRCh37] Chr14:103846616..104435928 [NCBI36] Chr14:14q32.33	uncertain significance
GRCh38/hg38 14q31.2-32.33(chr14:83912345-106855405)x3	copy number gain	See cases [RCV000052294]	Chr14:83912345..106855405 [GRCh38] Chr14:84378689..107263620 [GRCh37] Chr14:83448442..106334665 [NCBI36] Chr14:14q31.2-32.33	pathogenic
GRCh38/hg38 14q32.12-32.33(chr14:91455861-106832642)x3	copy number gain	See cases [RCV000052296]	Chr14:91455861..106832642 [GRCh38] Chr14:91922205..107240869 [GRCh37] Chr14:90991958..106311914 [NCBI36] Chr14:14q32.12-32.33	pathogenic
GRCh38/hg38 14q32.2-32.33(chr14:99831655-106855263)x1	copy number loss	See cases [RCV000133831]	Chr14:99831655..106855263 [GRCh38] Chr14:100297992..107263478 [GRCh37] Chr14:99367745..106334523 [NCBI36] Chr14:14q32.2-32.33	pathogenic
GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3	copy number gain	See cases [RCV000134000]	Chr14:73655772..106879298 [GRCh38] Chr14:74122475..107287505 [GRCh37] Chr14:73192228..106358550 [NCBI36] Chr14:14q24.3-32.33	pathogenic
GRCh38/hg38 14q32.2-32.33(chr14:100309382-105987610)x3	copy number gain	See cases [RCV000135410]	Chr14:100309382..105987610 [GRCh38] Chr14:100775719..106453697 [GRCh37] Chr14:99845472..105524742 [NCBI36] Chr14:14q32.2-32.33	pathogenic
GRCh38/hg38 14q32.2-32.33(chr14:97638520-106855263)x3	copy number gain	See cases [RCV000135400]	Chr14:97638520..106855263 [GRCh38] Chr14:98104857..107263478 [GRCh37] Chr14:97174610..106334523 [NCBI36] Chr14:14q32.2-32.33	pathogenic
GRCh38/hg38 14q32.2-32.33(chr14:99448012-106850609)x3	copy number gain	See cases [RCV000135875]	Chr14:99448012..106850609 [GRCh38] Chr14:99914349..107258824 [GRCh37] Chr14:98984102..106329869 [NCBI36] Chr14:14q32.2-32.33	pathogenic
GRCh38/hg38 14q32.33(chr14:104622881-106678844)x1	copy number loss	See cases [RCV000135781]	Chr14:104622881..106678844 [GRCh38] Chr14:105017236..107134861 [GRCh37] Chr14:104088281..106205906 [NCBI36] Chr14:14q32.33	uncertain significance
GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	copy number gain	See cases [RCV000135543]	Chr14:20151149..106855263 [GRCh38] Chr14:20619308..107263478 [GRCh37] Chr14:19689148..106334523 [NCBI36] Chr14:14q11.2-32.33	pathogenic
GRCh38/hg38 14q32.12-32.33(chr14:92540983-104863658)x3	copy number gain	See cases [RCV000135896]	Chr14:92540983..104863658 [GRCh38] Chr14:93007328..105329995 [GRCh37] Chr14:92077081..104401040 [NCBI36] Chr14:14q32.12-32.33	pathogenic
GRCh38/hg38 14q32.13-32.33(chr14:95524407-106879501)x1	copy number loss	See cases [RCV000136032]	Chr14:95524407..106879501 [GRCh38] Chr14:95990744..107287708 [GRCh37] Chr14:95060497..106358753 [NCBI36] Chr14:14q32.13-32.33	pathogenic
GRCh38/hg38 14q24.3-32.33(chr14:77222795-106879298)x3	copy number gain	See cases [RCV000138230]	Chr14:77222795..106879298 [GRCh38] Chr14:77689138..107287505 [GRCh37] Chr14:76758891..106358550 [NCBI36] Chr14:14q24.3-32.33	pathogenic
GRCh38/hg38 14q32.31-32.33(chr14:101925670-106876323)x1	copy number loss	See cases [RCV000139633]	Chr14:101925670..106876323 [GRCh38] Chr14:102392007..107284531 [GRCh37] Chr14:101461760..106355576 [NCBI36] Chr14:14q32.31-32.33	pathogenic
GRCh38/hg38 14q32.31-32.33(chr14:102239422-106877229)x1	copy number loss	See cases [RCV000141932]	Chr14:102239422..106877229 [GRCh38] Chr14:102705759..107285437 [GRCh37] Chr14:101775512..106356482 [NCBI36] Chr14:14q32.31-32.33	pathogenic
GRCh38/hg38 14q32.31-32.33(chr14:101665602-106855263)x1	copy number loss	See cases [RCV000142453]	Chr14:101665602..106855263 [GRCh38] Chr14:102131939..107263478 [GRCh37] Chr14:101201692..106334523 [NCBI36] Chr14:14q32.31-32.33	pathogenic
GRCh38/hg38 14q32.33(chr14:104051258-106877229)x1	copy number loss	See cases [RCV000142333]	Chr14:104051258..106877229 [GRCh38] Chr14:104517595..107285437 [GRCh37] Chr14:103587348..106356482 [NCBI36] Chr14:14q32.33	pathogenic
GRCh38/hg38 14q32.33(chr14:103823600-106879298)x1	copy number loss	See cases [RCV000142803]	Chr14:103823600..106879298 [GRCh38] Chr14:104289937..107287505 [GRCh37] Chr14:103359690..106358550 [NCBI36] Chr14:14q32.33	pathogenic
GRCh38/hg38 14q32.32-32.33(chr14:103322414-106855263)x3	copy number gain	See cases [RCV000142593]	Chr14:103322414..106855263 [GRCh38] Chr14:103788751..107263478 [GRCh37] Chr14:102858504..106334523 [NCBI36] Chr14:14q32.32-32.33	pathogenic
GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	copy number gain	See cases [RCV000143373]	Chr14:20043514..106877229 [GRCh38] Chr14:20511673..107285437 [GRCh37] Chr14:19581513..106356482 [NCBI36] Chr14:14q11.2-32.33	pathogenic
GRCh38/hg38 14q32.31-32.33(chr14:102605096-106879298)x1	copy number loss	See cases [RCV000143154]	Chr14:102605096..106879298 [GRCh38] Chr14:103071433..107287505 [GRCh37] Chr14:102141186..106358550 [NCBI36] Chr14:14q32.31-32.33	pathogenic
GRCh38/hg38 14q32.2-32.33(chr14:100582059-106877229)x1	copy number loss	See cases [RCV000143662]	Chr14:100582059..106877229 [GRCh38] Chr14:101048396..107285437 [GRCh37] Chr14:100118149..106356482 [NCBI36] Chr14:14q32.2-32.33	pathogenic
chr14:104643721..105932775 complex variant	complex	Breast ductal adenocarcinoma [RCV000207189]	Chr14:104643721..105932775 [GRCh37] Chr14:14q32.33	uncertain significance
GRCh37/hg19 14q32.32-32.33(chr14:103711336-107285437)x1	copy number loss	See cases [RCV000446081]	Chr14:103711336..107285437 [GRCh37] Chr14:14q32.32-32.33	pathogenic
GRCh37/hg19 14q32.2-32.33(chr14:98051841-107285437)x3	copy number gain	See cases [RCV000446497]	Chr14:98051841..107285437 [GRCh37] Chr14:14q32.2-32.33	likely pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	copy number gain	See cases [RCV000446256]	Chr14:19794561..107234280 [GRCh37] Chr14:14q11.2-32.33	pathogenic
GRCh37/hg19 14q23.2-32.33(chr14:62493932-107285437)x3	copy number gain	See cases [RCV000448557]	Chr14:62493932..107285437 [GRCh37] Chr14:14q23.2-32.33	pathogenic
GRCh37/hg19 14q32.31-32.33(chr14:103153637-107285437)x1	copy number loss	See cases [RCV000510629]	Chr14:103153637..107285437 [GRCh37] Chr14:14q32.31-32.33	pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	copy number gain	See cases [RCV000512041]	Chr14:20511673..107285437 [GRCh37] Chr14:14q11.2-32.33	pathogenic
GRCh37/hg19 14q32.32-32.33(chr14:103965059-107285437)x1	copy number loss	See cases [RCV000511801]	Chr14:103965059..107285437 [GRCh37] Chr14:14q32.32-32.33	pathogenic
GRCh37/hg19 14q32.33(chr14:104915608-107285437)x1	copy number loss	See cases [RCV000511076]	Chr14:104915608..107285437 [GRCh37] Chr14:14q32.33	pathogenic
GRCh37/hg19 14q32.2-32.33(chr14:100661319-107285437)x1	copy number loss	See cases [RCV000511171]	Chr14:100661319..107285437 [GRCh37] Chr14:14q32.2-32.33	pathogenic
GRCh37/hg19 14q32.31-32.33(chr14:102670706-107285437)x1	copy number loss	See cases [RCV000511173]	Chr14:102670706..107285437 [GRCh37] Chr14:14q32.31-32.33	pathogenic
GRCh37/hg19 14q24.2-32.33(chr14:73750741-107285437)x3	copy number gain	See cases [RCV000512497]	Chr14:73750741..107285437 [GRCh37] Chr14:14q24.2-32.33	pathogenic
GRCh37/hg19 14q32.31-32.33(chr14:102191861-106019451)x3	copy number gain	not provided [RCV000683623]	Chr14:102191861..106019451 [GRCh37] Chr14:14q32.31-32.33	pathogenic
GRCh37/hg19 14q32.2-32.33(chr14:100575917-107281934)	copy number gain	not provided [RCV000767752]	Chr14:100575917..107281934 [GRCh37] Chr14:14q32.2-32.33	pathogenic
GRCh37/hg19 14q11.1-32.33(chr14:19000422-107289053)x3	copy number gain	not provided [RCV000738412]	Chr14:19000422..107289053 [GRCh37] Chr14:14q11.1-32.33	pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19280733-107287663)x3	copy number gain	not provided [RCV000738413]	Chr14:19280733..107287663 [GRCh37] Chr14:14q11.2-32.33	pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19327823-107287663)x3	copy number gain	not provided [RCV000738414]	Chr14:19327823..107287663 [GRCh37] Chr14:14q11.2-32.33	pathogenic
GRCh37/hg19 14q32.33(chr14:105080065-106067618)x1	copy number loss	not provided [RCV000738611]	Chr14:105080065..106067618 [GRCh37] Chr14:14q32.33	benign
GRCh37/hg19 14q32.33(chr14:105222037-105285159)x1	copy number loss	not provided [RCV000738613]	Chr14:105222037..105285159 [GRCh37] Chr14:14q32.33	benign
GRCh37/hg19 14q32.31-32.33(chr14:101627916-107147698)x1	copy number loss	not provided [RCV000848417]	Chr14:101627916..107147698 [GRCh37] Chr14:14q32.31-32.33	pathogenic
NM_006427.4(SIVA1):c.422C>G (p.Thr141Ser)	single nucleotide variant	not provided [RCV000903790]	Chr14:104756712 [GRCh38] Chr14:105223049 [GRCh37] Chr14:14q32.33	benign
GRCh37/hg19 14q32.32-32.33(chr14:103804791-105677579)	copy number loss	not provided [RCV000767716]	Chr14:103804791..105677579 [GRCh37] Chr14:14q32.32-32.33	likely pathogenic
GRCh37/hg19 14q32.33(chr14:105067651-107285437)x1	copy number loss	not provided [RCV000848291]	Chr14:105067651..107285437 [GRCh37] Chr14:14q32.33	uncertain significance
GRCh37/hg19 14q32.33(chr14:104461553-105232775)x4	copy number gain	not provided [RCV001006657]	Chr14:104461553..105232775 [GRCh37] Chr14:14q32.33	uncertain significance
GRCh37/hg19 14q32.31-32.33(chr14:103153637-107285437)x1	copy number loss	not provided [RCV001006656]	Chr14:103153637..107285437 [GRCh37] Chr14:14q32.31-32.33	pathogenic
GRCh37/hg19 14q32.33(chr14:104764078-107285437)x1	copy number loss	not provided [RCV001006659]	Chr14:104764078..107285437 [GRCh37] Chr14:14q32.33	pathogenic
GRCh37/hg19 14q32.12-32.33(chr14:91969028-107285437)x3	copy number gain	not provided [RCV000848687]	Chr14:91969028..107285437 [GRCh37] Chr14:14q32.12-32.33	pathogenic
GRCh37/hg19 14q32.2-32.33(chr14:99794230-107285437)x3	copy number gain	not provided [RCV000849272]	Chr14:99794230..107285437 [GRCh37] Chr14:14q32.2-32.33	pathogenic
NC_000014.8:g.(?_102228231)_(105861009_?)dup	duplication	Charcot-Marie-Tooth disease axonal type 2O [RCV003107389]	Chr14:102228231..105861009 [GRCh37] Chr14:14q32.31-32.33	uncertain significance
GRCh37/hg19 14q31.2-32.33(chr14:84537502-107285437)x3	copy number gain	not provided [RCV002472581]	Chr14:84537502..107285437 [GRCh37] Chr14:14q31.2-32.33	pathogenic
GRCh37/hg19 14q32.2-32.33(chr14:96829290-107287663)x1	copy number loss	See cases [RCV001195078]	Chr14:96829290..107287663 [GRCh37] Chr14:14q32.2-32.33	pathogenic
NC_000014.9:g.(?_104677659)_(104957672_?)del	deletion	not provided [RCV001032275]	Chr14:105143996..105424009 [GRCh37] Chr14:14q32.33	pathogenic
GRCh37/hg19 14q32.33(chr14:105204147-105543486)x3	copy number gain	not provided [RCV001259802]	Chr14:105204147..105543486 [GRCh37] Chr14:14q32.33	uncertain significance
GRCh37/hg19 14q32.33(chr14:105112467-105285280)x3	copy number gain	not provided [RCV001258580]	Chr14:105112467..105285280 [GRCh37] Chr14:14q32.33	uncertain significance
GRCh37/hg19 14q32.31-32.33(chr14:102615953-107285437)x1	copy number loss	not provided [RCV001259801]	Chr14:102615953..107285437 [GRCh37] Chr14:14q32.31-32.33	pathogenic
NC_000014.8:g.(?_103336539)_(105861009_?)dup	duplication	not provided [RCV002239722]	Chr14:103336539..105861009 [GRCh37] Chr14:14q32.32-32.33	uncertain significance
NC_000014.8:g.(?_102442029)_(105861009_?)del	deletion	Charcot-Marie-Tooth disease axonal type 2O [RCV003107388]	Chr14:102442029..105861009 [GRCh37] Chr14:14q32.31-32.33	uncertain significance
GRCh37/hg19 14q32.31-32.33(chr14:101593860-106160500)x1	copy number loss	not provided [RCV001829204]	Chr14:101593860..106160500 [GRCh37] Chr14:14q32.31-32.33	pathogenic
GRCh37/hg19 14q32.31-32.33(chr14:101732158-107285437)	copy number loss	not specified [RCV002052456]	Chr14:101732158..107285437 [GRCh37] Chr14:14q32.31-32.33	pathogenic
NC_000014.8:g.(?_103148212)_(105861009_?)del	deletion	not provided [RCV002000609]	Chr14:103148212..105861009 [GRCh37] Chr14:14q32.31-32.33	uncertain significance
NC_000014.8:g.(?_102229222)_(105861009_?)dup	duplication	not provided [RCV003120748]	Chr14:102229222..105861009 [GRCh37] Chr14:14q32.31-32.33	uncertain significance
NC_000014.8:g.(?_105167703)_(105861009_?)del	deletion	Focal segmental glomerulosclerosis 5 [RCV003111501]	Chr14:105167703..105861009 [GRCh37] Chr14:14q32.33	uncertain significance
GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2	copy number gain	See cases [RCV002286356]	Chr14:37671058..106985955 [GRCh37] Chr14:14q13.3-32.33	pathogenic
NM_006427.4(SIVA1):c.149C>T (p.Ala50Val)	single nucleotide variant	Inborn genetic diseases [RCV002733321]	Chr14:104755660 [GRCh38] Chr14:105221997 [GRCh37] Chr14:14q32.33	uncertain significance
NM_006427.4(SIVA1):c.70G>A (p.Glu24Lys)	single nucleotide variant	Inborn genetic diseases [RCV002777892]	Chr14:104753271 [GRCh38] Chr14:105219608 [GRCh37] Chr14:14q32.33	uncertain significance
NM_006427.4(SIVA1):c.217C>T (p.Pro73Ser)	single nucleotide variant	Inborn genetic diseases [RCV002776757]	Chr14:104755728 [GRCh38] Chr14:105222065 [GRCh37] Chr14:14q32.33	uncertain significance
NM_006427.4(SIVA1):c.68G>A (p.Arg23Lys)	single nucleotide variant	Inborn genetic diseases [RCV002901757]	Chr14:104753269 [GRCh38] Chr14:105219606 [GRCh37] Chr14:14q32.33	likely benign
NM_006427.4(SIVA1):c.43C>G (p.Gln15Glu)	single nucleotide variant	Inborn genetic diseases [RCV002732504]	Chr14:104753244 [GRCh38] Chr14:105219581 [GRCh37] Chr14:14q32.33	uncertain significance
NM_006427.4(SIVA1):c.278G>A (p.Arg93His)	single nucleotide variant	Inborn genetic diseases [RCV002783425]	Chr14:104755789 [GRCh38] Chr14:105222126 [GRCh37] Chr14:14q32.33	uncertain significance
NM_006427.4(SIVA1):c.268C>G (p.Pro90Ala)	single nucleotide variant	Inborn genetic diseases [RCV002798451]	Chr14:104755779 [GRCh38] Chr14:105222116 [GRCh37] Chr14:14q32.33	uncertain significance
NM_006427.4(SIVA1):c.442G>A (p.Val148Met)	single nucleotide variant	Inborn genetic diseases [RCV002799695]	Chr14:104756732 [GRCh38] Chr14:105223069 [GRCh37] Chr14:14q32.33	uncertain significance
NM_006427.4(SIVA1):c.17G>A (p.Cys6Tyr)	single nucleotide variant	Inborn genetic diseases [RCV002808713]	Chr14:104753218 [GRCh38] Chr14:105219555 [GRCh37] Chr14:14q32.33	uncertain significance
NM_006427.4(SIVA1):c.482T>A (p.Met161Lys)	single nucleotide variant	Inborn genetic diseases [RCV002655537]	Chr14:104759439 [GRCh38] Chr14:105225776 [GRCh37] Chr14:14q32.33	uncertain significance
NM_006427.4(SIVA1):c.325G>T (p.Val109Leu)	single nucleotide variant	Inborn genetic diseases [RCV003202216]	Chr14:104756615 [GRCh38] Chr14:105222952 [GRCh37] Chr14:14q32.33	uncertain significance
GRCh37/hg19 14q32.32-32.33(chr14:103636647-107285437)x1	copy number loss	not provided [RCV003323337]	Chr14:103636647..107285437 [GRCh37] Chr14:14q32.32-32.33	pathogenic
NM_006427.4(SIVA1):c.43C>A (p.Gln15Lys)	single nucleotide variant	Inborn genetic diseases [RCV003266089]	Chr14:104753244 [GRCh38] Chr14:105219581 [GRCh37] Chr14:14q32.33	uncertain significance
GRCh38/hg38 14q32.31-32.33(chr14:102263440-106874929)x1	copy number loss	Neurodevelopmental disorder [RCV003327606]	Chr14:102263440..106874929 [GRCh38] Chr14:14q32.31-32.33	pathogenic
NM_006427.4(SIVA1):c.37C>A (p.Pro13Thr)	single nucleotide variant	Inborn genetic diseases [RCV003347686]	Chr14:104753238 [GRCh38] Chr14:105219575 [GRCh37] Chr14:14q32.33	uncertain significance
GRCh37/hg19 14q31.3-32.33(chr14:88580184-107285437)x3	copy number gain	not provided [RCV003485051]	Chr14:88580184..107285437 [GRCh37] Chr14:14q31.3-32.33	pathogenic
GRCh37/hg19 14q32.2-32.33(chr14:101024609-107285437)x1	copy number loss	not provided [RCV003483217]	Chr14:101024609..107285437 [GRCh37] Chr14:14q32.2-32.33	pathogenic
GRCh37/hg19 14q32.33(chr14:105122914-107285437)x3	copy number gain	not provided [RCV003485055]	Chr14:105122914..107285437 [GRCh37] Chr14:14q32.33	uncertain significance
GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3	copy number gain	not provided [RCV003485036]	Chr14:58894502..107227240 [GRCh37] Chr14:14q23.1-32.33	pathogenic
GRCh37/hg19 14q32.31-32.33(chr14:102098959-107285437)x1	copy number loss	not specified [RCV003987056]	Chr14:102098959..107285437 [GRCh37] Chr14:14q32.31-32.33	pathogenic

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	2172
Count of miRNA genes:	856
Interacting mature miRNAs:	1012
Transcripts:	ENST00000329967, ENST00000347067, ENST00000535554, ENST00000553810, ENST00000553819, ENST00000554013, ENST00000556195, ENST00000556431
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.

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

2430

2623

1703

606

1629

447

4353

2121

3473

377

1455

1609

174

1204

2788

Low

368

322

261

Below cutoff

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NG_029449	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_006427	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_021709	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011536360	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054375275	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AF033111	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF401214	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK095949	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK124078	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK128704	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK223332	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK300415	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK316457	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK316550	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL583722	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC034562	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BK000018	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BU195069	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471061	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CK001877	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068264	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

RefSeq Acc Id:

ENST00000329967 ⟹ ENSP00000329213

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	14	104,753,147 - 104,759,654 (+)	Ensembl

RefSeq Acc Id:

ENST00000347067 ⟹ ENSP00000329447

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	14	104,753,159 - 104,759,659 (+)	Ensembl

RefSeq Acc Id:

ENST00000535554 ⟹ ENSP00000485991

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	14	104,753,147 - 104,757,479 (+)	Ensembl

RefSeq Acc Id:

ENST00000553810 ⟹ ENSP00000451570

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	14	104,753,160 - 104,757,312 (+)	Ensembl

RefSeq Acc Id:

ENST00000553819 ⟹ ENSP00000451427

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	14	104,753,171 - 104,768,494 (+)	Ensembl

RefSeq Acc Id:

ENST00000554013

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	14	104,753,181 - 104,756,925 (+)	Ensembl

RefSeq Acc Id:

ENST00000556195 ⟹ ENSP00000451823

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	14	104,753,718 - 104,759,578 (+)	Ensembl

RefSeq Acc Id:

ENST00000556431

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	14	104,753,202 - 104,759,653 (+)	Ensembl

RefSeq Acc Id:

NM_006427 ⟹ NP_006418

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	14	104,753,147 - 104,759,654 (+)	NCBI
GRCh37	14	105,219,470 - 105,225,996 (+)	ENTREZGENE
Build 36	14	104,290,515 - 104,297,041 (+)	NCBI Archive
HuRef	14	85,416,458 - 85,422,986 (+)	ENTREZGENE
CHM1_1	14	105,157,086 - 105,163,614 (+)	NCBI
T2T-CHM13v2.0	14	98,996,033 - 99,002,540 (+)	NCBI

Sequence:

show sequence

GTCGTTGGTAAGGGGCTGGCGGCCGGGGAGCTGCGTAGCTCCCGGCCCCGCGGCCATGCCCAAG
CGGAGCTGCCCCTTCGCGGACGTGGCCCCGCTACAGCTCAAGGTCCGCGTGAGCCAGAGGGAGT
TGAGCCGCGGCGTGTGCGCCGAGCGCTACTCGCAGGAGGTCTTCGAGAAGACCAAGCGACTCCT
GTTCCTCGGGGCCCAGGCCTACCTGGACCACGTGTGGGATGAAGGCTGTGCCGTCGTTCACCTG
CCAGAGTCCCCAAAGCCTGGCCCTACAGGGGCCCCGAGGGCTGCACGTGGGCAGATGCTGATTG
GACCAGACGGCCGCCTGATCAGGAGCCTTGGGCAGGCCTCCGAAGCTGACCCATCTGGGGTAGC
GTCCATTGCCTGTTCCTCATGCGTGCGAGCCGTGGATGGGAAGGCGGTCTGCGGTCAGTGTGAG
CGAGCCCTGTGCGGGCAGTGTGTGCGCACCTGCTGGGGCTGCGGCTCCGTGGCCTGTACCCTGT
GTGGCCTCGTGGACTGCAGTGACATGTACGAGAAAGTGCTGTGCACCAGCTGTGCCATGTTCGA
GACCTGAGGCTGGCTCAAGCCGGCTGCCTTCACCGGGAGCCACGCCGTGCATGGCAGCCTTCCC
TGGACGAGCGCTCGGTGTTCACACTGAACTGTGGGGTCGACGGGAGGGGTGCCTTTTACATGTT
CTATTTTGTATCCTAATGACAGAATGAATAAACCTCTTTATATTTGCA

hide sequence

RefSeq Acc Id:

NM_021709 ⟹ NP_068355

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	14	104,753,147 - 104,759,654 (+)	NCBI
GRCh37	14	105,219,470 - 105,225,996 (+)	ENTREZGENE
Build 36	14	104,290,515 - 104,297,041 (+)	NCBI Archive
HuRef	14	85,416,458 - 85,422,986 (+)	ENTREZGENE
CHM1_1	14	105,157,086 - 105,163,614 (+)	NCBI
T2T-CHM13v2.0	14	98,996,033 - 99,002,540 (+)	NCBI

Sequence:

show sequence

GTCGTTGGTAAGGGGCTGGCGGCCGGGGAGCTGCGTAGCTCCCGGCCCCGCGGCCATGCCCAAG
CGGAGCTGCCCCTTCGCGGACGTGGCCCCGCTACAGCTCAAGGTCCGCGTGAGCCAGAGGGAGT
TGAGCCGCGGCGTGTGCGCCGAGCGCTACTCGCAGGAGGTCTTCGACCCATCTGGGGTAGCGTC
CATTGCCTGTTCCTCATGCGTGCGAGCCGTGGATGGGAAGGCGGTCTGCGGTCAGTGTGAGCGA
GCCCTGTGCGGGCAGTGTGTGCGCACCTGCTGGGGCTGCGGCTCCGTGGCCTGTACCCTGTGTG
GCCTCGTGGACTGCAGTGACATGTACGAGAAAGTGCTGTGCACCAGCTGTGCCATGTTCGAGAC
CTGAGGCTGGCTCAAGCCGGCTGCCTTCACCGGGAGCCACGCCGTGCATGGCAGCCTTCCCTGG
ACGAGCGCTCGGTGTTCACACTGAACTGTGGGGTCGACGGGAGGGGTGCCTTTTACATGTTCTA
TTTTGTATCCTAATGACAGAATGAATAAACCTCTTTATATTTGCA

hide sequence

RefSeq Acc Id:

XM_011536360 ⟹ XP_011534662

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	14	104,753,147 - 104,759,654 (+)	NCBI

Sequence:

show sequence

CCGGGAGGCGCAAGCTACAGTGAGCCGAGACTGCCACTGCACTCAGTCTGGGTGACAGAGCGAG
ACCCTGTCTCTAAAGGGGAAAAAAGAGCTAGGAAGAAGCGGGCTGCCTCTTAACTTCGGAGAAG
TAAATGAGGAACTATAACCAGTGTCTACCGTTTAGGAACCAAACAAAAGCTGACAGGAATCCCG
CCACCGACCCAGCCGCCCCAGACTTTGCCCTGGCCTATCCCGCGCCGCTCCTCAAACTAGACCC
GCCCCGACGTCGCCCTGGCCTATCCCACGCCGATCCTCAAACGAGGCCCGCCCCCGATGCACAA
GCTCCGCCCTCGTTGCACCGTCCTGACCCTCGGCCTCGCCCCCGCCCCCTGGCTCTTCCCGCGC
AGCCGAATGCCGCGACCTGGCTCCCACCCTTCGTCGCTTCGCGCCGCATAGGAACCCCGCCCCT
AGTCTCTCCTCCCGCCTATCCTGAGCGGCGCGCGCACAAATCTCTCCCACGGACCCGCCCACCC
TGATCCTCAACCTGGCCCCTGGCCTTTCCCGCGGCGTCGAGTCCAGTACACCGACGCACGAGTC
CCACCCCCGATCTCTCCCTCGGCCTATCCCGCGCCGCTCCGCGCAGGAGTCCCGCCTCCCACTT
CGCCCGCAGCCTATGACGCGCCGCGTCGCTCCCTCTCCTCAAACCCGCTCTCGCCCGCGGATGG
GCGCGCAGCTGTGACGTCACGGCGTCGTTGGTAAGGGGCTGGCGGCCGGGGAGCTGCGTAGCTC
CCGGCCCCGCGGCCATGCCCAAGCGGAGCTGCCCCTTCGCGGACGTGGCCCCGCTACAGCTCAA
GGTCCGCGTGAGCCAGAGGGAGTTGAGCCGCGGCGTGTGCGCCGAGCGCTACTCGCAGGAGGTC
TTCGAGAAGACCAAGCGACTCCTGTTCCTCGGGGCCCAGGCCTACCTGGACCACGTGTGGGATG
AAGGCTGTGCCGTCGTTCACCTGCCAGAGTCCCCAAAGCCTGGCCCTACAGGGGCCCCGAGGGC
TGCACGTGGGCAGATGCTGATTGGACCAGACGGCCGCCTGATCAGGAGCCTTGGGCAGGCCTCC
GAAGCTGACCCATCTGGGGTAGCGTCCATTGCCTGTTCCTCATGCGTGCGAGCCGTGGATGGGA
AGGCGGTCTGCGGTCAGTGTGAGCGAGCCCTGTGCGGGCAGTGTGTGCGCACCTGCTGGGGCTG
CGGCTCCGTGGCCTGTACCCTGTGTGGCCTCGTGGATCTTTTTAGGACGCTGGTCGTGTTGCCT
TAGGGCCCCCATGTCAGTGCCGTCATCTAGACTGATGATGCCCGCAGTGATCCTGTCTCCAGAT
AAGGTCATGTCCTGAGGTGTTCTGGGTTAGGACTTTGACGTTTGAATGGTGGGGGGTGGTGGAC
ACAATTCAGCCCCTGACAGCAGCTTTTCTCTCCCCTCCCTGACGCTGTCGCAGCTGCAGTGACA
TGTACGAGAAAGTGCTGTGCACCAGCTGTGCCATGTTCGAGACCTGAGGCTGGCTCAAGCCGGC
TGCCTTCACCGGGAGCCACGCCGTGCATGGCAGCCTTCCCTGGACGAGCGCTCGGTGTTCACAC
TGAACTGTGGGGTCGACGGGAGGGGTGCCTTTTACATGTTCTATTTTGTATCCTAATGACAGAA
TGAATAAACCTCTTTATATTTGCACAAGA

hide sequence

RefSeq Acc Id:

XM_054375275 ⟹ XP_054231250

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	14	98,996,033 - 99,002,540 (+)	NCBI

Protein Sequences


Protein RefSeqs	NP_006418	(Get FASTA)	NCBI Sequence Viewer
	NP_068355	(Get FASTA)	NCBI Sequence Viewer
	XP_011534662	(Get FASTA)	NCBI Sequence Viewer
	XP_054231250	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAD50057	(Get FASTA)	NCBI Sequence Viewer
	AAH34562	(Get FASTA)	NCBI Sequence Viewer
	AAL02171	(Get FASTA)	NCBI Sequence Viewer
	BAD97052	(Get FASTA)	NCBI Sequence Viewer
	BAG62144	(Get FASTA)	NCBI Sequence Viewer
	BAG65628	(Get FASTA)	NCBI Sequence Viewer
	BAH14828	(Get FASTA)	NCBI Sequence Viewer
	DAA01049	(Get FASTA)	NCBI Sequence Viewer
	EAW81877	(Get FASTA)	NCBI Sequence Viewer
	EAW81878	(Get FASTA)	NCBI Sequence Viewer
	EAW81879	(Get FASTA)	NCBI Sequence Viewer
	EAW81880	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000329213
	ENSP00000329213.6
	ENSP00000329447
	ENSP00000329447.6
	ENSP00000451427.1
	ENSP00000451570.1
	ENSP00000451823.2
	ENSP00000485991
	ENSP00000485991.1
GenBank Protein	O15304	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_006418 ⟸ NM_006427
- Peptide Label:	isoform 1
- UniProtKB:	Q96P98 (UniProtKB/Swiss-Prot), Q9UPD6 (UniProtKB/Swiss-Prot), O15304 (UniProtKB/Swiss-Prot), Q53FF7 (UniProtKB/TrEMBL)
- Sequence:	show sequence MPKRSCPFADVAPLQLKVRVSQRELSRGVCAERYSQEVFEKTKRLLFLGAQAYLDHVWDEGCAV VHLPESPKPGPTGAPRAARGQMLIGPDGRLIRSLGQASEADPSGVASIACSSCVRAVDGKAVCG QCERALCGQCVRTCWGCGSVACTLCGLVDCSDMYEKVLCTSCAMFET hide sequence

RefSeq Acc Id:	NP_068355 ⟸ NM_021709
- Peptide Label:	isoform 2
- UniProtKB:	O15304 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MPKRSCPFADVAPLQLKVRVSQRELSRGVCAERYSQEVFDPSGVASIACSSCVRAVDGKAVCGQ CERALCGQCVRTCWGCGSVACTLCGLVDCSDMYEKVLCTSCAMFET hide sequence

RefSeq Acc Id:	XP_011534662 ⟸ XM_011536360
- Peptide Label:	isoform X1
- UniProtKB:	B4DTY2 (UniProtKB/TrEMBL)
- Sequence:	show sequence MPKRSCPFADVAPLQLKVRVSQRELSRGVCAERYSQEVFEKTKRLLFLGAQAYLDHVWDEGCAV VHLPESPKPGPTGAPRAARGQMLIGPDGRLIRSLGQASEADPSGVASIACSSCVRAVDGKAVCG QCERALCGQCVRTCWGCGSVACTLCGLVDLFRTLVVLP hide sequence

RefSeq Acc Id:

ENSP00000451823 ⟸ ENST00000556195

RefSeq Acc Id:

ENSP00000329447 ⟸ ENST00000347067

RefSeq Acc Id:

ENSP00000485991 ⟸ ENST00000535554

RefSeq Acc Id:

ENSP00000329213 ⟸ ENST00000329967

RefSeq Acc Id:

ENSP00000451570 ⟸ ENST00000553810

RefSeq Acc Id:

ENSP00000451427 ⟸ ENST00000553819

RefSeq Acc Id:	XP_054231250 ⟸ XM_054375275
- Peptide Label:	isoform X1

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-O15304-F1-model_v2	AlphaFold	O15304	1-175	view protein structure

Promoters

RGD ID:

6791872

Promoter ID:

HG_KWN:20375

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

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

Transcripts:

NM_006427, NM_021709, UC001YPG.1

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	14	104,289,866 - 104,290,682 (+)	MPROMDB

RGD ID:

7228755

Promoter ID:

EPDNEW_H20124

Type:

initiation region

Name:

SIVA1_1

Description:

SIVA1 apoptosis inducing factor

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	14	104,753,183 - 104,753,243	EPDNEW

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:17712	AgrOrtholog
COSMIC	SIVA1	COSMIC
Ensembl Genes	ENSG00000184990	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript	ENST00000329967	ENTREZGENE
	ENST00000329967.11	UniProtKB/Swiss-Prot
	ENST00000347067	ENTREZGENE
	ENST00000347067.9	UniProtKB/Swiss-Prot
	ENST00000535554	ENTREZGENE
	ENST00000535554.4	UniProtKB/TrEMBL
	ENST00000553810.5	UniProtKB/TrEMBL
	ENST00000553819.5	UniProtKB/TrEMBL
	ENST00000556195.2	UniProtKB/TrEMBL
GTEx	ENSG00000184990	GTEx
HGNC ID	HGNC:17712	ENTREZGENE
Human Proteome Map	SIVA1	Human Proteome Map
InterPro	2Fe2S_fd_BS	UniProtKB/TrEMBL
	Siva	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	hsa:10572	UniProtKB/Swiss-Prot
NCBI Gene	10572	ENTREZGENE
OMIM	605567	OMIM
PANTHER	APOPTOSIS REGULATORY PROTEIN SIVA	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	PTHR14365	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam	Siva	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA162403351	PharmGKB
PIRSF	Siva_cd27_bd	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE	2FE2S_FER_1	UniProtKB/TrEMBL
UniProt	B4DTY2	ENTREZGENE, UniProtKB/TrEMBL
	G3V3U1_HUMAN	UniProtKB/TrEMBL
	G3V439_HUMAN	UniProtKB/TrEMBL
	H0YJN1_HUMAN	UniProtKB/TrEMBL
	O15304	ENTREZGENE
	Q53FF7	ENTREZGENE, UniProtKB/TrEMBL
	Q96P98	ENTREZGENE
	Q9UPD6	ENTREZGENE
	SIVA_HUMAN	UniProtKB/Swiss-Prot
UniProt Secondary	Q96P98	UniProtKB/Swiss-Prot
	Q9UPD6	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2016-02-16	SIVA1	SIVA1 apoptosis inducing factor	SIVA1	SIVA1, apoptosis-inducing factor	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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