SLFN12 (schlafen family member 12)

Gene: SLFN12 (schlafen family member 12) Homo sapiens

Analyze

Symbol:

SLFN12

Name:

schlafen family member 12

RGD ID:

1605673

HGNC Page

HGNC:25500

Description:

Enables RNA nuclease activity and ribosome binding activity. Involved in apoptotic signaling pathway and rRNA catabolic process. Part of cytosol and nucleus.

Type:

protein-coding

RefSeq Status:

VALIDATED

Previously known as:

FLJ10260; ribonuclease SLFN12; SLFN3

RGD Orthologs

Alliance Genes

More Info

more info ...

More Info

Species	Gene symbol and name	Data Source	Assertion derived from	less info ...
Orthologs ¹				less info ...
Mus musculus (house mouse):	Slfn3 (schlafen 3)	HGNC	Ensembl, Inparanoid, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Rattus norvegicus (Norway rat):	Slfn4 (schlafen family member 4)	HGNC	Ensembl, HomoloGene, OMA, OrthoDB, Panther
Pan paniscus (bonobo/pygmy chimpanzee):	SLFN12 (schlafen family member 12)	NCBI	Ortholog
Canis lupus familiaris (dog):	SLFN12 (schlafen family member 12)	HGNC	HomoloGene
Chlorocebus sabaeus (green monkey):	SLFN12 (schlafen family member 12)	NCBI	Ortholog
Other homologs ²
Mus musculus (house mouse):	Slfn4 (schlafen 4)	HGNC	Ensembl, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Mus musculus (house mouse):	Slfn2 (schlafen 2)	HGNC	Ensembl, OrthoDB, Panther, PhylomeDB, Treefam
Rattus norvegicus (Norway rat):	Slfn2 (schlafen family member 2)	HGNC	Ensembl, OrthoDB, Panther, Treefam
Mus musculus (house mouse):	Slfn1 (schlafen 1)	HGNC	Ensembl, OrthoDB, PhylomeDB
Rattus norvegicus (Norway rat):	Slfn3 (schlafen family member 3)	HGNC	HomoloGene
Rattus norvegicus (Norway rat):	Slfn1 (schlafen family member 1)	HGNC	Ensembl
Rattus norvegicus (Norway rat):	Cdkl3 (cyclin-dependent kinase-like 3)	HGNC	OMA
Rattus norvegicus (Norway rat):	Or1ad5 (olfactory receptor family 1 subfamily AD member 5)	HGNC	OMA
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Slfn4 (schlafen family member 4)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Mus musculus (house mouse):	Slfn2 (schlafen 2)	Alliance	DIOPT (Ensembl Compara\|OrthoFinder\|PANTHER\|PhylomeDB)
Mus musculus (house mouse):	Slfn1 (schlafen 1)	Alliance	DIOPT (Ensembl Compara\|OrthoFinder\|PANTHER\|PhylomeDB)
Mus musculus (house mouse):	Slfn4 (schlafen 4)	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Mus musculus (house mouse):	Slfn3 (schlafen 3)	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)

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	17	35,410,922 - 35,433,174 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	17	35,410,922 - 35,433,283 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	17	33,737,941 - 33,760,193 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	17	30,762,192 - 30,783,656 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	17	30,648,230 - 30,669,690 (-)	NCBI		Celera
Cytogenetic Map	17	q12	NCBI
HuRef	17	29,923,102 - 29,944,498 (-)	NCBI		HuRef
CHM1_1	17	33,802,400 - 33,823,865 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	17	36,351,811 - 36,381,711 (-)	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

genetic disease (IAGP)

peroxisome biogenesis disorder 3A (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

17alpha-ethynylestradiol (ISO)

17beta-estradiol (ISO)

17beta-estradiol 3-benzoate (ISO)

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

all-trans-retinoic acid (EXP)

aristolochic acid A (ISO)

belinostat (EXP)

benzo[a]pyrene (EXP)

bis(2-ethylhexyl) phthalate (EXP)

bisphenol A (ISO)

cannabidiol (EXP)

carbon nanotube (ISO)

clofibrate (ISO)

copper(II) sulfate (EXP)

DDT (ISO)

dorsomorphin (EXP)

entinostat (EXP)

fenvalerate (ISO)

formaldehyde (EXP)

fragrance (EXP)

lipopolysaccharide (EXP)

mercury dibromide (EXP)

methylmercury chloride (EXP)

nickel atom (EXP)

ozone (ISO)

paracetamol (ISO)

phenylmercury acetate (EXP)

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

SB 431542 (EXP)

sodium arsenite (ISO)

testosterone (ISO)

trichostatin A (EXP)

valproic acid (EXP)

vorinostat (EXP)

zinc atom (EXP)

zinc(0) (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

apoptotic signaling pathway (IMP)

lung alveolus development (ISO)

negative regulation of cell population proliferation (ISO)

rRNA catabolic process (IDA,IMP)

Cellular Component

cytoplasm (IEA)

cytosol (IDA,IEA)

nucleus (IDA,IEA)

Molecular Function

hydrolase activity (IEA)

protein binding (IPI)

ribosome binding (IDA)

RNA nuclease activity (IDA,IMP)

References

References - curated

#	Reference Title	Reference Citation
1.	ClinVar Automated Import and Annotation Pipeline	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions

Additional References at PubMed

PMID:9846487	PMID:12477932	PMID:14702039	PMID:15489334	PMID:23455924	PMID:24768141	PMID:28514442	PMID:29107068	PMID:29507755	PMID:30045019	PMID:30875077	PMID:31026779
PMID:31391242	PMID:31420216	PMID:31838790	PMID:32814053	PMID:33961781	PMID:34272366	PMID:35104454	PMID:36042349	PMID:37165099

Genomics

Comparative Map Data

SLFN12
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	17	35,410,922 - 35,433,174 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	17	35,410,922 - 35,433,283 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	17	33,737,941 - 33,760,193 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	17	30,762,192 - 30,783,656 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	17	30,648,230 - 30,669,690 (-)	NCBI		Celera
Cytogenetic Map	17	q12	NCBI
HuRef	17	29,923,102 - 29,944,498 (-)	NCBI		HuRef
CHM1_1	17	33,802,400 - 33,823,865 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	17	36,351,811 - 36,381,711 (-)	NCBI		T2T-CHM13v2.0

Slfn3
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	11	83,082,156 - 83,105,980 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	11	83,082,156 - 83,105,980 (+)	Ensembl		GRCm39 Ensembl
GRCm38	11	83,191,330 - 83,215,154 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	11	83,191,330 - 83,215,154 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	11	83,004,832 - 83,028,656 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	11	83,007,525 - 83,031,349 (+)	NCBI		MGSCv36	mm8
Celera	11	92,780,849 - 92,804,664 (+)	NCBI		Celera
Cytogenetic Map	11	C	NCBI
cM Map	11	50.3	NCBI

Slfn4
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	10	68,492,135 - 68,515,674 (+)	NCBI		GRCr8
mRatBN7.2	10	67,994,601 - 68,018,141 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	10	68,000,028 - 68,018,138 (+)	Ensembl		mRatBN7.2 Ensembl
mRatBN7.2 Ensembl	10	67,994,632 - 68,018,138 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	10	72,614,701 - 72,638,151 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	10	72,120,085 - 72,143,535 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	10	67,584,123 - 67,607,575 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	10	70,411,686 - 70,435,162 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	10	70,411,738 - 70,435,156 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	10	70,045,721 - 70,069,233 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	10	71,277,765 - 71,301,183 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	10	71,291,014 - 71,314,467 (+)	NCBI
Celera	10	66,943,545 - 66,961,594 (+)	NCBI		Celera
Cytogenetic Map	10	q26	NCBI

SLFN12
(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	19	29,039,285 - 29,068,736 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	17	30,920,265 - 30,949,716 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	17	21,359,252 - 21,384,308 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	17	21,652,566 - 21,676,326 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	17	21,652,566 - 21,676,326 (+)	Ensembl	panpan1.1		panPan2

SLFN12
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	9	38,140,071 - 38,146,347 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
Dog10K_Boxer_Tasha	9	37,363,941 - 37,370,841 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	9	38,951,413 - 38,958,375 (+)	NCBI		ROS_Cfam_1.0
UMICH_Zoey_3.1	9	37,735,395 - 37,742,344 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	9	38,020,063 - 38,027,019 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	9	38,107,811 - 38,114,775 (+)	NCBI		UU_Cfam_GSD_1.0

SLFN12
(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	16	28,883,628 - 28,913,393 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	16	28,883,886 - 28,912,880 (-)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666075	1,067,844 - 1,099,183 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Variants

Variants in SLFN12
29 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 17q12(chr17:35360337-35411448)x1	copy number loss	See cases [RCV000053712]	Chr17:35360337..35411448 [GRCh38] Chr17:33687356..33738467 [GRCh37] Chr17:30711469..30762580 [NCBI36] Chr17:17q12	benign
NM_018042.4(SLFN12):c.501C>T (p.Pro167=)	single nucleotide variant	Malignant melanoma [RCV000071411]	Chr17:35422528 [GRCh38] Chr17:33749547 [GRCh37] Chr17:30773660 [NCBI36] Chr17:17q12	not provided
NM_018042.4(SLFN12):c.1348G>A (p.Asp450Asn)	single nucleotide variant	Malignant melanoma [RCV000063193]	Chr17:35411727 [GRCh38] Chr17:33738746 [GRCh37] Chr17:30762859 [NCBI36] Chr17:17q12	not provided
GRCh38/hg38 17q12(chr17:35358082-35427813)x1	copy number loss	See cases [RCV000134464]	Chr17:35358082..35427813 [GRCh38] Chr17:33685101..33754832 [GRCh37] Chr17:30709214..30778945 [NCBI36] Chr17:17q12	benign
GRCh38/hg38 17q12(chr17:35129859-35767049)x3	copy number gain	See cases [RCV000136983]	Chr17:35129859..35767049 [GRCh38] Chr17:33456878..34094068 [GRCh37] Chr17:30480991..31118181 [NCBI36] Chr17:17q12	uncertain significance
GRCh38/hg38 17q12(chr17:35360337-35411448)x1	copy number loss	See cases [RCV000148156]	Chr17:35360337..35411448 [GRCh38] Chr17:33687356..33738467 [GRCh37] Chr17:30711469..30762580 [NCBI36] Chr17:17q12	benign
NM_144682.5(SLFN13):c.2109_*83579del	deletion	Large for gestational age [RCV000161806]\|Normal pregnancy [RCV000161808]\|Preeclampsia [RCV000161807]	Chr17:35357016..35441180 [GRCh38] Chr17:33684035..33768199 [GRCh37] Chr17:17q12	not provided
GRCh37/hg19 17q12(chr17:33687356-33767930)x1	copy number loss	See cases [RCV000449203]	Chr17:33687356..33767930 [GRCh37] Chr17:17q12	benign\|likely benign
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	copy number gain	See cases [RCV000511439]	Chr17:526..81041938 [GRCh37] Chr17:17p13.3-q25.3	pathogenic
GRCh37/hg19 17q12(chr17:33498726-33863479)x1	copy number loss	See cases [RCV000510830]	Chr17:33498726..33863479 [GRCh37] Chr17:17q12	likely benign
NM_018042.5(SLFN12):c.791T>C (p.Ile264Thr)	single nucleotide variant	Inborn genetic diseases [RCV003286872]	Chr17:35422238 [GRCh38] Chr17:33749257 [GRCh37] Chr17:17q12	uncertain significance
NM_018042.5(SLFN12):c.832A>G (p.Met278Val)	single nucleotide variant	Inborn genetic diseases [RCV003263135]	Chr17:35422197 [GRCh38] Chr17:33749216 [GRCh37] Chr17:17q12	uncertain significance
NM_018042.5(SLFN12):c.1166C>T (p.Thr389Met)	single nucleotide variant	Inborn genetic diseases [RCV003245323]	Chr17:35411909 [GRCh38] Chr17:33738928 [GRCh37] Chr17:17q12	uncertain significance
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	copy number gain	See cases [RCV000512441]	Chr17:526..81041938 [GRCh37] Chr17:17p13.3-q25.3	pathogenic
GRCh37/hg19 17q12(chr17:32351496-34455576)x1	copy number loss	not provided [RCV000683918]	Chr17:32351496..34455576 [GRCh37] Chr17:17q12	uncertain significance
GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3	copy number gain	not provided [RCV000739320]	Chr17:7214..81058310 [GRCh37] Chr17:17p13.3-q25.3	pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3	copy number gain	not provided [RCV000739325]	Chr17:12344..81057996 [GRCh37] Chr17:17p13.3-q25.3	pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3	copy number gain	not provided [RCV000739324]	Chr17:8547..81060040 [GRCh37] Chr17:17p13.3-q25.3	pathogenic
GRCh37/hg19 17q12(chr17:33680811-33768199)x1	copy number loss	not provided [RCV000739494]	Chr17:33680811..33768199 [GRCh37] Chr17:17q12	benign
GRCh37/hg19 17q12(chr17:33684035-33768199)x1	copy number loss	not provided [RCV000739495]	Chr17:33684035..33768199 [GRCh37] Chr17:17q12	benign
GRCh37/hg19 17q12(chr17:33684035-33768199)x3	copy number gain	not provided [RCV000739496]	Chr17:33684035..33768199 [GRCh37] Chr17:17q12	benign
GRCh37/hg19 17q12(chr17:33684035-33768334)x1	copy number loss	not provided [RCV000752014]	Chr17:33684035..33768334 [GRCh37] Chr17:17q12	benign
GRCh37/hg19 17q12(chr17:33690466-33768354)x1	copy number loss	not provided [RCV000752015]	Chr17:33690466..33768354 [GRCh37] Chr17:17q12	benign
GRCh37/hg19 17q12(chr17:33691903-33768199)x3	copy number gain	not provided [RCV000752016]	Chr17:33691903..33768199 [GRCh37] Chr17:17q12	benign
GRCh37/hg19 17p11.2-q21.2(chr17:21690653-38772647)x3	copy number gain	not provided [RCV000846852]	Chr17:21690653..38772647 [GRCh37] Chr17:17p11.2-q21.2	pathogenic
GRCh37/hg19 17q12(chr17:33073917-33863479)x1	copy number loss	not provided [RCV001006894]	Chr17:33073917..33863479 [GRCh37] Chr17:17q12	uncertain significance
NM_018042.5(SLFN12):c.225A>G (p.Ile75Met)	single nucleotide variant	Inborn genetic diseases [RCV003251008]	Chr17:35422804 [GRCh38] Chr17:33749823 [GRCh37] Chr17:17q12	uncertain significance
NC_000017.10:g.(?_33475283)_(34079869_?)dup	duplication	Peroxisome biogenesis disorder 3A (Zellweger) [RCV003110947]	Chr17:33475283..34079869 [GRCh37] Chr17:17q12	uncertain significance
GRCh37/hg19 17q12(chr17:33766040-34001896)x3	copy number gain	Isolated anorectal malformation [RCV002286602]	Chr17:33766040..34001896 [GRCh37] Chr17:17q12	uncertain significance
NM_018042.5(SLFN12):c.1556C>T (p.Pro519Leu)	single nucleotide variant	Inborn genetic diseases [RCV003260757]	Chr17:35411519 [GRCh38] Chr17:33738538 [GRCh37] Chr17:17q12	uncertain significance
NM_018042.5(SLFN12):c.299G>C (p.Gly100Ala)	single nucleotide variant	Inborn genetic diseases [RCV002728052]	Chr17:35422730 [GRCh38] Chr17:33749749 [GRCh37] Chr17:17q12	uncertain significance
NM_018042.5(SLFN12):c.761T>A (p.Met254Lys)	single nucleotide variant	Inborn genetic diseases [RCV002945895]	Chr17:35422268 [GRCh38] Chr17:33749287 [GRCh37] Chr17:17q12	likely benign
NM_018042.5(SLFN12):c.1351A>G (p.Ser451Gly)	single nucleotide variant	Inborn genetic diseases [RCV002905451]	Chr17:35411724 [GRCh38] Chr17:33738743 [GRCh37] Chr17:17q12	uncertain significance
NM_018042.5(SLFN12):c.62T>A (p.Val21Asp)	single nucleotide variant	Inborn genetic diseases [RCV002952049]	Chr17:35422967 [GRCh38] Chr17:33749986 [GRCh37] Chr17:17q12	uncertain significance
NM_018042.5(SLFN12):c.80G>C (p.Ser27Thr)	single nucleotide variant	Inborn genetic diseases [RCV002759591]	Chr17:35422949 [GRCh38] Chr17:33749968 [GRCh37] Chr17:17q12	uncertain significance
NM_018042.5(SLFN12):c.229C>A (p.Leu77Ile)	single nucleotide variant	Inborn genetic diseases [RCV002738962]	Chr17:35422800 [GRCh38] Chr17:33749819 [GRCh37] Chr17:17q12	uncertain significance
NM_018042.5(SLFN12):c.1082C>T (p.Thr361Met)	single nucleotide variant	Inborn genetic diseases [RCV003004627]	Chr17:35420339 [GRCh38] Chr17:33747358 [GRCh37] Chr17:17q12	likely benign
NM_018042.5(SLFN12):c.911C>A (p.Ala304Glu)	single nucleotide variant	Inborn genetic diseases [RCV002891590]	Chr17:35422118 [GRCh38] Chr17:33749137 [GRCh37] Chr17:17q12	uncertain significance
NM_018042.5(SLFN12):c.206G>T (p.Ser69Ile)	single nucleotide variant	Inborn genetic diseases [RCV002793197]	Chr17:35422823 [GRCh38] Chr17:33749842 [GRCh37] Chr17:17q12	uncertain significance
NM_018042.5(SLFN12):c.629C>T (p.Ser210Leu)	single nucleotide variant	Inborn genetic diseases [RCV002768935]	Chr17:35422400 [GRCh38] Chr17:33749419 [GRCh37] Chr17:17q12	uncertain significance
NM_018042.5(SLFN12):c.704G>A (p.Gly235Glu)	single nucleotide variant	Inborn genetic diseases [RCV002669737]	Chr17:35422325 [GRCh38] Chr17:33749344 [GRCh37] Chr17:17q12	uncertain significance
NM_018042.5(SLFN12):c.673T>C (p.Tyr225His)	single nucleotide variant	Inborn genetic diseases [RCV002680482]	Chr17:35422356 [GRCh38] Chr17:33749375 [GRCh37] Chr17:17q12	uncertain significance
NM_018042.5(SLFN12):c.895T>G (p.Cys299Gly)	single nucleotide variant	Inborn genetic diseases [RCV003197046]	Chr17:35422134 [GRCh38] Chr17:33749153 [GRCh37] Chr17:17q12	uncertain significance
NM_018042.5(SLFN12):c.658G>C (p.Glu220Gln)	single nucleotide variant	Inborn genetic diseases [RCV003192920]	Chr17:35422371 [GRCh38] Chr17:33749390 [GRCh37] Chr17:17q12	uncertain significance
NM_018042.5(SLFN12):c.830G>T (p.Cys277Phe)	single nucleotide variant	Inborn genetic diseases [RCV003174506]	Chr17:35422199 [GRCh38] Chr17:33749218 [GRCh37] Chr17:17q12	uncertain significance
NM_018042.5(SLFN12):c.376T>A (p.Leu126Met)	single nucleotide variant	Inborn genetic diseases [RCV003211432]	Chr17:35422653 [GRCh38] Chr17:33749672 [GRCh37] Chr17:17q12	uncertain significance
NM_018042.5(SLFN12):c.806G>A (p.Arg269Lys)	single nucleotide variant	Inborn genetic diseases [RCV003193712]	Chr17:35422223 [GRCh38] Chr17:33749242 [GRCh37] Chr17:17q12	likely benign
NM_018042.5(SLFN12):c.1078A>C (p.Asn360His)	single nucleotide variant	Inborn genetic diseases [RCV003208809]	Chr17:35420343 [GRCh38] Chr17:33747362 [GRCh37] Chr17:17q12	uncertain significance
GRCh37/hg19 17q11.2-12(chr17:30572862-35843988)	copy number loss	Chromosome 17q12 deletion syndrome [RCV003319594]	Chr17:30572862..35843988 [GRCh37] Chr17:17q11.2-12	pathogenic
NM_018042.5(SLFN12):c.1610C>T (p.Ala537Val)	single nucleotide variant	Inborn genetic diseases [RCV003262494]	Chr17:35411465 [GRCh38] Chr17:33738484 [GRCh37] Chr17:17q12	likely benign
NM_018042.5(SLFN12):c.572A>G (p.Asp191Gly)	single nucleotide variant	Inborn genetic diseases [RCV003349735]	Chr17:35422457 [GRCh38] Chr17:33749476 [GRCh37] Chr17:17q12	uncertain significance
NM_018042.5(SLFN12):c.26C>G (p.Thr9Arg)	single nucleotide variant	Inborn genetic diseases [RCV003347774]	Chr17:35423003 [GRCh38] Chr17:33750022 [GRCh37] Chr17:17q12	uncertain significance
NM_018042.5(SLFN12):c.1514T>A (p.Met505Lys)	single nucleotide variant	Inborn genetic diseases [RCV003370795]	Chr17:35411561 [GRCh38] Chr17:33738580 [GRCh37] Chr17:17q12	likely benign
GRCh37/hg19 17q12(chr17:33758250-34082140)x3	copy number gain	not provided [RCV003485152]	Chr17:33758250..34082140 [GRCh37] Chr17:17q12	uncertain significance
GRCh37/hg19 17q12(chr17:33316754-33890206)x1	copy number loss	not specified [RCV003987224]	Chr17:33316754..33890206 [GRCh37] Chr17:17q12	uncertain significance

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	852
Count of miRNA genes:	437
Interacting mature miRNAs:	462
Transcripts:	ENST00000304905, ENST00000394562, ENST00000428476, ENST00000445092, ENST00000447040, ENST00000452764, ENST00000460530, ENST00000479326
Prediction methods:	Microtar, Miranda, Rnahybrid
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

357

207

130

184

Low

2313

2841

1485

448

1432

289

3605

1619

1887

328

1279

1339

164

1175

2209

Below cutoff

126

181

162

118

162

541

548

1722

518

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_001289009	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_018042	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_005257995	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011524967	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_017024809	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_017024810	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_017024811	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_024450822	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054316598	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054316599	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054316600	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XR_008484852	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XR_008484853	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XR_008484854	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XR_008484855	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XR_008484856	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AC060766	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK001122	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK291826	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC035605	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BX647081	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CB045471	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471147	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068261	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

RefSeq Acc Id:

ENST00000304905 ⟹ ENSP00000302077

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	17	35,410,922 - 35,432,500 (-)	Ensembl

RefSeq Acc Id:

ENST00000394562 ⟹ ENSP00000378063

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	17	35,411,060 - 35,433,196 (-)	Ensembl

RefSeq Acc Id:

ENST00000428476

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	17	35,431,883 - 35,433,165 (-)	Ensembl

RefSeq Acc Id:

ENST00000445092 ⟹ ENSP00000404175

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	17	35,422,821 - 35,433,145 (-)	Ensembl

RefSeq Acc Id:

ENST00000447040 ⟹ ENSP00000398315

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	17	35,422,683 - 35,433,199 (-)	Ensembl

RefSeq Acc Id:

ENST00000452764 ⟹ ENSP00000394903

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	17	35,411,071 - 35,433,283 (-)	Ensembl

RefSeq Acc Id:

ENST00000460530

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	17	35,411,317 - 35,420,765 (-)	Ensembl

RefSeq Acc Id:

ENST00000479326

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	17	35,411,368 - 35,420,835 (-)	Ensembl

RefSeq Acc Id:

NM_001289009 ⟹ NP_001275938

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	17	35,410,922 - 35,433,174 (-)	NCBI
HuRef	17	29,922,964 - 29,945,150 (-)	NCBI
CHM1_1	17	33,802,262 - 33,824,517 (-)	NCBI
T2T-CHM13v2.0	17	36,358,896 - 36,381,148 (-)	NCBI

Sequence:

show sequence

ATTCGCGTTCTTTTTACTCTGTGGAGAGTGAGCCCGCGGACTGTAGCCTGGGCCTCGCCAAGTT
CCTTTGTTCTTTGTTTTCTTTAAATTACCTTTTTTCTTTTTGTCTTAAAAAATACACATGGGTG
AAAAAGAAACGAGAGCTCCCTAGAGATCACTCAGAGCTGTTTTCGTGGGTTTTTAACTTCCAGT
TGCTCAAGGGTCCACGCTGGCATCTGGGGTGTGCTCGCACCTGCGAAGAATCCAGCTTCTAGGG
AGCACCGCGAGCTGAAAAGAATTTCTGCTTGGACACTGCATAGCTGCTGGGAAAATGAACATCA
GTGTTGATTTGGAAACGAATTATGCCGAGTTGGTTCTAGATGTGGGAAGAGTCACTCTTGGAGA
GAACAGTAGGAAAAAAATGAAGGATTGTAAACTGAGAAAAAAGCAGAATGAAAGTGTCTCACGA
GCTATGTGTGCTCTGCTCAATTCTGGAGGGGGAGTGATCAAGGCTGAAATTGAGAATGAAGACT
ATAGTTATACAAAAGATGGAATAGGACTAGATTTGGAAAATTCTTTTAGTAACATTCTGTTATT
TGTTCCTGAGTACTTAGACTTCATGCAGAATGGTAACTACTTTCTGATTTTTGTGAAGTCATGG
AGCTTGAACACCTCTGGTCTGCGGATTACCACCTTGAGCTCCAATTTGTACAAAAGAGATATAA
CATCTGCAAAAGTCATGAATGCCACTGCTGCACTGGAGTTCCTCAAAGACATGAAAAAGACTAG
AGGGAGATTGTATTTAAGACCAGAATTGCTGGCAAAGAGGCCCTGTGTTGATATACAAGAAGAA
AATAACATGAAGGCCTTGGCCGGGGTTTTTTTTGATAGAACAGAACTTGATCGGAAAGAAAAAT
TGACCTTTACTGAATCCACACATGTTGAAATTAAAAACTTCTCGACAGAAAAGTTGTTACAACG
AATTAAAGAGATTCTCCCTCAATATGTTTCTGCATTTGCAAATACTGATGGAGGATATTTGTTC
ATTGGTTTAAATGAAGATAAAGAAATAATTGGCTTTAAAGCAGAGATGAGTGACCTCGATGACT
TAGAAAGAGAAATCGAAAAGTCCATTAGGAAGATGCCTGTGCATCACTTCTGTATGGAGAAGAA
GAAGATAAATTATTCATGCAAATTCCTTGGAGTATATGATAAAGGAAGTCTTTGTGGATATGTC
TGTGCACTCAGAGTGGAGCGCTTCTGCTGTGCAGTGTTTGCTAAAGAGCCTGATTCCTGGCATG
TGAAAGATAACCGTGTGATGCAGTTGACCAGGAAGGAATGGATCCAGTTCATGGTGGAGGCTGA
ACCAAAATTTTCCAGTTCATATGAAGAGGTGATCTCTCAAATAAATACGTCATTACCTGCTCCC
CACAGTTGGCCTCTTTTGGAATGGCAACGGCAGAGACATCACTGTCCAGGGCTATCAGGAAGGA
TAACGTATACTCCAGAAAACCTTTGCAGAAAACTGTTCTTACAACATGAAGGACTTAAGCAATT
AATATGTGAAGAAATGGACTCTGTCAGAAAGGGCTCACTGATCTTCTCTAGGAGCTGGTCTGTG
GATCTGGGCTTGCAAGAGAACCACAAAGTCCTCTGTGATGCTCTTCTGATTTCCCAGGACAGTC
CTCCAGTCCTATACACCTTCCACATGGTACAGGATGAGGAGTTTAAAGGCTATTCTACACAAAC
TGCCCTAACCTTAAAGCAGAAGCTGGCAAAAATTGGTGGTTACACTAAAAAAGTGTGTGTCATG
ACAAAGATCTTCTACTTGAGCCCTGAAGGCATGACAAGCTGCCAGTATGATTTAAGGTCGCAAG
TAATTTACCCTGAATCCTACTATTTTACAAGAAGGAAATACTTGCTGAAAGCCCTTTTTAAAGC
CTTAAAGAGACTCAAGTCTCTGAGAGACCAGTTTTCCTTTGCAGAAAATCTATACCAGATAATC
GGTATAGATTGCTTTCAGAAGAATGATAAAAAGATGTTTAAATCTTGTCGAAGGCTCACCTGAT
GGAAAATGGACTGGGCTACTGAGATATTTTTCATTATATATTTGATAACATTCTCTAATTCTGT
GAAAATATTTCTTTGAAAACTTTGCAAGTTAAGCAACTTAATGTGATGTTGGATAATTGGGTTT
TGTCTATTTTCACTTCTCCCTAAATAATCTTCACAGATATTGTTTGAGGGATATTAGGAAAATT
AATTTGTTAACTCGTCTGTGCACAGTATTATTTACTCTGTCTGTAGTTCCTGAATAAATTTTCT
TCCATGCTTGAACTGGGAAAATTGCAACACTTTTATTCTTAATGACAACAGTGAAAATCTCCCA
GCATATACCTAGAAAACAATTATAACTTACAAAAGATTATCCTTGATGAAACTCAGAATTTCCA
CAGTGGGAATGAATAAGAAGGCAAAACTCAT

hide sequence

RefSeq Acc Id:

NM_018042 ⟹ NP_060512

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	17	35,410,922 - 35,432,500 (-)	NCBI
GRCh37	17	33,738,079 - 33,760,302 (-)	NCBI
Build 36	17	30,762,192 - 30,783,656 (-)	NCBI Archive
Celera	17	30,648,230 - 30,669,690 (-)	RGD
HuRef	17	29,922,964 - 29,945,150 (-)	NCBI
CHM1_1	17	33,802,262 - 33,823,865 (-)	NCBI
T2T-CHM13v2.0	17	36,358,896 - 36,380,474 (-)	NCBI

Sequence:

show sequence

ATTGATCGCTTTCTGCAACCATTCAGACTGATCTCGGGCTCCTATTTCATTTACATTGTGTGCA
CACCAAGTAACCAGTGGGAAAACTTTAGAGGGTACTTAAACCCCAGAAAATTCTGAAACCGGGC
TCTTGAGCCGCTATCCTCGGGCCTGCTCCCACCCTGTGGAGTGCACTTTCGTTTTCAATAAATC
TCTGCTTTTGTTGCTTCATTCTTTCCTTGCTTTGTTTGTGTGTTTGTCCAGTTCTTTGTTCAAC
ACGCCAAGAACCTGGACACTCTTCACTGGTAACATATTTTGGCAAGCCAACCAGGAGAAAAGAA
TTTCTGCTTGGACACTGCATAGCTGCTGGGAAAATGAACATCAGTGTTGATTTGGAAACGAATT
ATGCCGAGTTGGTTCTAGATGTGGGAAGAGTCACTCTTGGAGAGAACAGTAGGAAAAAAATGAA
GGATTGTAAACTGAGAAAAAAGCAGAATGAAAGTGTCTCACGAGCTATGTGTGCTCTGCTCAAT
TCTGGAGGGGGAGTGATCAAGGCTGAAATTGAGAATGAAGACTATAGTTATACAAAAGATGGAA
TAGGACTAGATTTGGAAAATTCTTTTAGTAACATTCTGTTATTTGTTCCTGAGTACTTAGACTT
CATGCAGAATGGTAACTACTTTCTGATTTTTGTGAAGTCATGGAGCTTGAACACCTCTGGTCTG
CGGATTACCACCTTGAGCTCCAATTTGTACAAAAGAGATATAACATCTGCAAAAGTCATGAATG
CCACTGCTGCACTGGAGTTCCTCAAAGACATGAAAAAGACTAGAGGGAGATTGTATTTAAGACC
AGAATTGCTGGCAAAGAGGCCCTGTGTTGATATACAAGAAGAAAATAACATGAAGGCCTTGGCC
GGGGTTTTTTTTGATAGAACAGAACTTGATCGGAAAGAAAAATTGACCTTTACTGAATCCACAC
ATGTTGAAATTAAAAACTTCTCGACAGAAAAGTTGTTACAACGAATTAAAGAGATTCTCCCTCA
ATATGTTTCTGCATTTGCAAATACTGATGGAGGATATTTGTTCATTGGTTTAAATGAAGATAAA
GAAATAATTGGCTTTAAAGCAGAGATGAGTGACCTCGATGACTTAGAAAGAGAAATCGAAAAGT
CCATTAGGAAGATGCCTGTGCATCACTTCTGTATGGAGAAGAAGAAGATAAATTATTCATGCAA
ATTCCTTGGAGTATATGATAAAGGAAGTCTTTGTGGATATGTCTGTGCACTCAGAGTGGAGCGC
TTCTGCTGTGCAGTGTTTGCTAAAGAGCCTGATTCCTGGCATGTGAAAGATAACCGTGTGATGC
AGTTGACCAGGAAGGAATGGATCCAGTTCATGGTGGAGGCTGAACCAAAATTTTCCAGTTCATA
TGAAGAGGTGATCTCTCAAATAAATACGTCATTACCTGCTCCCCACAGTTGGCCTCTTTTGGAA
TGGCAACGGCAGAGACATCACTGTCCAGGGCTATCAGGAAGGATAACGTATACTCCAGAAAACC
TTTGCAGAAAACTGTTCTTACAACATGAAGGACTTAAGCAATTAATATGTGAAGAAATGGACTC
TGTCAGAAAGGGCTCACTGATCTTCTCTAGGAGCTGGTCTGTGGATCTGGGCTTGCAAGAGAAC
CACAAAGTCCTCTGTGATGCTCTTCTGATTTCCCAGGACAGTCCTCCAGTCCTATACACCTTCC
ACATGGTACAGGATGAGGAGTTTAAAGGCTATTCTACACAAACTGCCCTAACCTTAAAGCAGAA
GCTGGCAAAAATTGGTGGTTACACTAAAAAAGTGTGTGTCATGACAAAGATCTTCTACTTGAGC
CCTGAAGGCATGACAAGCTGCCAGTATGATTTAAGGTCGCAAGTAATTTACCCTGAATCCTACT
ATTTTACAAGAAGGAAATACTTGCTGAAAGCCCTTTTTAAAGCCTTAAAGAGACTCAAGTCTCT
GAGAGACCAGTTTTCCTTTGCAGAAAATCTATACCAGATAATCGGTATAGATTGCTTTCAGAAG
AATGATAAAAAGATGTTTAAATCTTGTCGAAGGCTCACCTGATGGAAAATGGACTGGGCTACTG
AGATATTTTTCATTATATATTTGATAACATTCTCTAATTCTGTGAAAATATTTCTTTGAAAACT
TTGCAAGTTAAGCAACTTAATGTGATGTTGGATAATTGGGTTTTGTCTATTTTCACTTCTCCCT
AAATAATCTTCACAGATATTGTTTGAGGGATATTAGGAAAATTAATTTGTTAACTCGTCTGTGC
ACAGTATTATTTACTCTGTCTGTAGTTCCTGAATAAATTTTCTTCCATGCTTGAACTGGGAAAA
TTGCAACACTTTTATTCTTAATGACAACAGTGAAAATCTCCCAGCATATACCTAGAAAACAATT
ATAACTTACAAAAGATTATCCTTGATGAAACTCAGAATTTCCACAGTGGGAATGAATAAGAAGG
CAAAACTCAT

hide sequence

RefSeq Acc Id:

XM_005257995 ⟹ XP_005258052

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	17	35,410,922 - 35,433,174 (-)	NCBI
GRCh37	17	33,738,079 - 33,760,302 (-)	NCBI

Sequence:

show sequence

ATTCGCGTTCTTTTTACTCTGTGGAGAGTGAGCCCGCGGACTGTAGCCTGGGCCTCGCCAAGTT
CCTTTGTTCTTTGTTTTCTTTAAATTACCTTTTTTCTTTTTGTCTTAAAAAATACACATGGGTG
AAAAAGAAACGAGAGCTCCCTAGAGATCACTCAGAGCTGTTTTCGTGGGTTTTTAACTTCCAGT
TGCTCAAGGGTCCACGCTGGCATCTGGGGTGTGCTCGCACCTGCGAAGAATCCAGCTTCTAGGG
AGCACCGCGAGCTGTTCTTTGTTCAACACGCCAAGAACCTGGACACTCTTCACTGGTAACATAT
TTTGGCAAGCCAACCAGGAGAAAAGAATTTCTGCTTGGACACTGCATAGCTGCTGGGAAAATGA
ACATCAGTGTTGATTTGGAAACGAATTATGCCGAGTTGGTTCTAGATGTGGGAAGAGTCACTCT
TGGAGAGAACAGTAGGAAAAAAATGAAGGATTGTAAACTGAGAAAAAAGCAGAATGAAAGTGTC
TCACGAGCTATGTGTGCTCTGCTCAATTCTGGAGGGGGAGTGATCAAGGCTGAAATTGAGAATG
AAGACTATAGTTATACAAAAGATGGAATAGGACTAGATTTGGAAAATTCTTTTAGTAACATTCT
GTTATTTGTTCCTGAGTACTTAGACTTCATGCAGAATGGTAACTACTTTCTGATTTTTGTGAAG
TCATGGAGCTTGAACACCTCTGGTCTGCGGATTACCACCTTGAGCTCCAATTTGTACAAAAGAG
ATATAACATCTGCAAAAGTCATGAATGCCACTGCTGCACTGGAGTTCCTCAAAGACATGAAAAA
GACTAGAGGGAGATTGTATTTAAGACCAGAATTGCTGGCAAAGAGGCCCTGTGTTGATATACAA
GAAGAAAATAACATGAAGGCCTTGGCCGGGGTTTTTTTTGATAGAACAGAACTTGATCGGAAAG
AAAAATTGACCTTTACTGAATCCACACATGTTGAAATTAAAAACTTCTCGACAGAAAAGTTGTT
ACAACGAATTAAAGAGATTCTCCCTCAATATGTTTCTGCATTTGCAAATACTGATGGAGGATAT
TTGTTCATTGGTTTAAATGAAGATAAAGAAATAATTGGCTTTAAAGCAGAGATGAGTGACCTCG
ATGACTTAGAAAGAGAAATCGAAAAGTCCATTAGGAAGATGCCTGTGCATCACTTCTGTATGGA
GAAGAAGAAGATAAATTATTCATGCAAATTCCTTGGAGTATATGATAAAGGAAGTCTTTGTGGA
TATGTCTGTGCACTCAGAGTGGAGCGCTTCTGCTGTGCAGTGTTTGCTAAAGAGCCTGATTCCT
GGCATGTGAAAGATAACCGTGTGATGCAGTTGACCAGGAAGGAATGGATCCAGTTCATGGTGGA
GGCTGAACCAAAATTTTCCAGTTCATATGAAGAGGTGATCTCTCAAATAAATACGTCATTACCT
GCTCCCCACAGTTGGCCTCTTTTGGAATGGCAACGGCAGAGACATCACTGTCCAGGGCTATCAG
GAAGGATAACGTATACTCCAGAAAACCTTTGCAGAAAACTGTTCTTACAACATGAAGGACTTAA
GCAATTAATATGTGAAGAAATGGACTCTGTCAGAAAGGGCTCACTGATCTTCTCTAGGAGCTGG
TCTGTGGATCTGGGCTTGCAAGAGAACCACAAAGTCCTCTGTGATGCTCTTCTGATTTCCCAGG
ACAGTCCTCCAGTCCTATACACCTTCCACATGGTACAGGATGAGGAGTTTAAAGGCTATTCTAC
ACAAACTGCCCTAACCTTAAAGCAGAAGCTGGCAAAAATTGGTGGTTACACTAAAAAAGTGTGT
GTCATGACAAAGATCTTCTACTTGAGCCCTGAAGGCATGACAAGCTGCCAGTATGATTTAAGGT
CGCAAGTAATTTACCCTGAATCCTACTATTTTACAAGAAGGAAATACTTGCTGAAAGCCCTTTT
TAAAGCCTTAAAGAGACTCAAGTCTCTGAGAGACCAGTTTTCCTTTGCAGAAAATCTATACCAG
ATAATCGGTATAGATTGCTTTCAGAAGAATGATAAAAAGATGTTTAAATCTTGTCGAAGGCTCA
CCTGATGGAAAATGGACTGGGCTACTGAGATATTTTTCATTATATATTTGATAACATTCTCTAA
TTCTGTGAAAATATTTCTTTGAAAACTTTGCAAGTTAAGCAACTTAATGTGATGTTGGATAATT
GGGTTTTGTCTATTTTCACTTCTCCCTAAATAATCTTCACAGATATTGTTTGAGGGATATTAGG
AAAATTAATTTGTTAACTCGTCTGTGCACAGTATTATTTACTCTGTCTGTAGTTCCTGAATAAA
TTTTCTTCCATGCTTGAACTGGGAAAATTGCAACACTTTTATTCTTAATGACAACAGTGAAAAT
CTCCCAGCATATACCTAGAAAACAATTATAACTTACAAAAGATTATCCTTGATGAAACTCAGAA
TTTCCACAGTGGGAATGAATAAGAAGGCAAAACTCATTTTCTCAAAACAAAACTCCAGGAATTC
TCTGGATCTTCTTGAGCTACTTTCACACTATTTACTTGGAAGGGTTGTGGATTTCCTAACTGGT
CAGCTAGCACCTTTAAAGAACTCACAAGAATGGTTACTTTATTTTTCTACAAGCAGTTCTGAAT
AAAGAAGCGTGAGATGACAAAATATGGAAAATCCTCTCTAACTAAGATTTGAAGGAAAGCAGCC
AAGGTATAAGTAGAAACTCTTTTAGACAACGAGAGTTTTCATCAACAAGAGGAAGGAGCACCAG
GGTCTGGCATTTCCCACTCATCTAAGATGAGCTAAGGGACCAAGATGAAGCTCAGCAGAGTGGG
ATACACCCTTGGCTGGGTGTTCTGAATTCATGCCTAAGACCTTCAGTGGGATCTTGGAACAGAG
AATAGAGCCTAAATTACCCATCAGGGCCTCAGCCTTCTCCACCACTGTGTCCAATGCCAGAGGA
AGTCGATCAATGCATTCAGTATTCTGAGAAAAGTTTTACTAACACATATTTTGCCAAACGAGAT
GATGTTTGACTATAAAGGAAATAGGCAGACATTCTTATCAAAGGATATAGGGAACGGAACGTAG
TTCTCTTCTACCTTCTTGAAAACTATGTTACAATGAAATCCAGCCAATGAAGAGATGAATCAAA
ATGAAGAACCTAAAACGAGAGCATACTTGCACTCCTGGAGTCTCTCTCCAGCCCTGAACTGTGG
CCAGCACAGTGTGTCAGCCTGTACCAGCTGCCGGTATGGGTGACCTGGGCACAGGCAAGGCCAT
CATCATCACACACTGTGTGCACCAGAACTCCTCTTGGCATCTCCAAGCCAGTTCACCATTGTGT
GAACTGTGCACTGAAGGAGCTCCACTGGGACTCAGAGGCCTTGGCACAACTGCAGCTGTGGAAC
ATTGCGATGAGGAAAGATTGGGAAAATGACAAGAGCCCATTGTCTGGAATTCATAGGTGCATTG
ATTGTCTTCAGTATCACCAGCCCAGCCCCATTTGAAGCAGAGCCAAAGTGGAAAAATGATTTGG
ACTAAACGTTAACTCATGGCAGACCAGTTTCTGTGGTTCTGTTGGCCAAGAAATGTGACCATGG
GAGGATGAATGCAGAAACAGCAGCCTCAAGATGGGCCAGATCTACATGGAACATAGTTTTGTAG
GATAAATTGAAACATCAGCAAAAGAAAATGTGAACTTTGATGAAGCCTCCAGGTGCCTGGATGC
CAAATAGACAAATACAGAATATAAGAAAACACAATAAGAGTCATTGGCCCCGTGCCTATTTGGC
ATCATTGCAAGAAACCTGGGGTAGTAATAGTGGACGTATTTAGAGAGTGAGGCATAAGCTCACC
TAAACAGCCTAGAAAATGTTTACTATGAGAGTAAGAAGGAAGAACACAAGTGGATATACGAGGA
GTCCTTGCAATCTGGCCCATCACGCACCCTTTGCATATCTCTACCTACTTGTGCATAATTCAGC
ATCCAGCAGAGGAAGACAAAATGTTGCGGACAGTTCCTCTACCAGCAGCATGCCTCCCCCAGGA
CAAGCGCAAAGTGAAGACTGGTCGTCGCTTCAGTGAAGAAAGAGATCCTGAACTTTCAACTGTT
TGCCGGAAGTTTGGTACATTAATGTTATATCCAGGGGCTAATATAAGAAGCTGCTAATCTGGAA
GAATTTATATTAGATTCTCCTGTTTATCCTTCTACAATCATCGTCATTGATGGTACACGGAGCC
AGGCTAAGGACATTTTCTGTAAGAATTCCTTGTTCTGACACCCCCAAACAGGTGCAGTTAAAAA
CGAGCATTTCTAGTCAGTATGTAATTCGGATACAGCCAATTAATAGATGTCTTTCTACA

hide sequence

RefSeq Acc Id:

XM_024450822 ⟹ XP_024306590

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	17	35,410,922 - 35,433,174 (-)	NCBI

Sequence:

show sequence

TAATAAAGAGTGCGGACACTTCCGGAGCGCCAGCTGCCCAATAGAAATGCAGGCCACGCTGGGG
AAGTGTGGAGCCGCAGCCCAGGATGGGGAGGGCCGGAAAACAGAAAAGGATTCGCGTTCTTTTT
ACTCTGTGGAGAGTGAGCCCGCGGACTGTAGCCTGGGCCTCGCCAAGTTCCTTTGTTCTTTGTT
TTCTTTAAATTACCTTTTTTCTTTTTGTCTTAAAAAATACACATGGGTGAAAAAGAAACGAGAG
CTCCCTAGAGATCACTCAGAGCTGTTTTCGTGGGTTTTTAACTTCCAGTTGCTCAAGGGTCCAC
GCTGGCATCTGGGGTGTGCTCGCACCTGCGAAGAATCCAGCTTCTAGGGAGCACCGCGAGCTGT
TCTTTGTTCAACACGCCAAGAACCTGGACACTCTTCACTGGTAACATATTTTGGCAAGCCAACC
AGGAGGTTTTCGATGTTTGCATGCAGCCATCTCTAGAATGTCAAATGGTCTCTCTTCAACTGGA
ATGATGAGAAGTGAAACAAATATGCGACCATGAGGACACTGTAACCTATGGATGGTGTGCTGAG
ACTGGAAACCCAAAATGATGAAAAGAATTTCTGCTTGGACACTGCATAGCTGCTGGGAAAATGA
ACATCAGTGTTGATTTGGAAACGAATTATGCCGAGTTGGTTCTAGATGTGGGAAGAGTCACTCT
TGGAGAGAACAGTAGGAAAAAAATGAAGGATTGTAAACTGAGAAAAAAGCAGAATGAAAGTGTC
TCACGAGCTATGTGTGCTCTGCTCAATTCTGGAGGGGGAGTGATCAAGGCTGAAATTGAGAATG
AAGACTATAGTTATACAAAAGATGGAATAGGACTAGATTTGGAAAATTCTTTTAGTAACATTCT
GTTATTTGTTCCTGAGTACTTAGACTTCATGCAGAATGGTAACTACTTTCTGATTTTTGTGAAG
TCATGGAGCTTGAACACCTCTGGTCTGCGGATTACCACCTTGAGCTCCAATTTGTACAAAAGAG
ATATAACATCTGCAAAAGTCATGAATGCCACTGCTGCACTGGAGTTCCTCAAAGACATGAAAAA
GACTAGAGGGAGATTGTATTTAAGACCAGAATTGCTGGCAAAGAGGCCCTGTGTTGATATACAA
GAAGAAAATAACATGAAGGCCTTGGCCGGGGTTTTTTTTGATAGAACAGAACTTGATCGGAAAG
AAAAATTGACCTTTACTGAATCCACACATGTTGAAATTAAAAACTTCTCGACAGAAAAGTTGTT
ACAACGAATTAAAGAGATTCTCCCTCAATATGTTTCTGCATTTGCAAATACTGATGGAGGATAT
TTGTTCATTGGTTTAAATGAAGATAAAGAAATAATTGGCTTTAAAGCAGAGATGAGTGACCTCG
ATGACTTAGAAAGAGAAATCGAAAAGTCCATTAGGAAGATGCCTGTGCATCACTTCTGTATGGA
GAAGAAGAAGATAAATTATTCATGCAAATTCCTTGGAGTATATGATAAAGGAAGTCTTTGTGGA
TATGTCTGTGCACTCAGAGTGGAGCGCTTCTGCTGTGCAGTGTTTGCTAAAGAGCCTGATTCCT
GGCATGTGAAAGATAACCGTGTGATGCAGTTGACCAGGAAGGAATGGATCCAGTTCATGGTGGA
GGCTGAACCAAAATTTTCCAGTTCATATGAAGAGGTGATCTCTCAAATAAATACGTCATTACCT
GCTCCCCACAGTTGGCCTCTTTTGGAATGGCAACGGCAGAGACATCACTGTCCAGGGCTATCAG
GAAGGATAACGTATACTCCAGAAAACCTTTGCAGAAAACTGTTCTTACAACATGAAGGACTTAA
GCAATTAATATGTGAAGAAATGGACTCTGTCAGAAAGGGCTCACTGATCTTCTCTAGGAGCTGG
TCTGTGGATCTGGGCTTGCAAGAGAACCACAAAGTCCTCTGTGATGCTCTTCTGATTTCCCAGG
ACAGTCCTCCAGTCCTATACACCTTCCACATGGTACAGGATGAGGAGTTTAAAGGCTATTCTAC
ACAAACTGCCCTAACCTTAAAGCAGAAGCTGGCAAAAATTGGTGGTTACACTAAAAAAGTGTGT
GTCATGACAAAGATCTTCTACTTGAGCCCTGAAGGCATGACAAGCTGCCAGTATGATTTAAGGT
CGCAAGTAATTTACCCTGAATCCTACTATTTTACAAGAAGGAAATACTTGCTGAAAGCCCTTTT
TAAAGCCTTAAAGAGACTCAAGTCTCTGAGAGACCAGTTTTCCTTTGCAGAAAATCTATACCAG
ATAATCGGTATAGATTGCTTTCAGAAGAATGATAAAAAGATGTTTAAATCTTGTCGAAGGCTCA
CCTGATGGAAAATGGACTGGGCTACTGAGATATTTTTCATTATATATTTGATAACATTCTCTAA
TTCTGTGAAAATATTTCTTTGAAAACTTTGCAAGTTAAGCAACTTAATGTGATGTTGGATAATT
GGGTTTTGTCTATTTTCACTTCTCCCTAAATAATCTTCACAGATATTGTTTGAGGGATATTAGG
AAAATTAATTTGTTAACTCGTCTGTGCACAGTATTATTTACTCTGTCTGTAGTTCCTGAATAAA
TTTTCTTCCATGCTTGAACTGGGAAAATTGCAACACTTTTATTCTTAATGACAACAGTGAAAAT
CTCCCAGCATATACCTAGAAAACAATTATAACTTACAAAAGATTATCCTTGATGAAACTCAGAA
TTTCCACAGTGGGAATGAATAAGAAGGCAAAACTCATTTTCTCAAAACAAAACTCCAGGAATTC
TCTGGATCTTCTTGAGCTACTTTCACACTATTTACTTGGAAGGGTTGTGGATTTCCTAACTGGT
CAGCTAGCACCTTTAAAGAACTCACAAGAATGGTTACTTTATTTTTCTACAAGCAGTTCTGAAT
AAAGAAGCGTGAGATGACAAAATATGGAAAATCCTCTCTAACTAAGATTTGAAGGAAAGCAGCC
AAGGTATAAGTAGAAACTCTTTTAGACAACGAGAGTTTTCATCAACAAGAGGAAGGAGCACCAG
GGTCTGGCATTTCCCACTCATCTAAGATGAGCTAAGGGACCAAGATGAAGCTCAGCAGAGTGGG
ATACACCCTTGGCTGGGTGTTCTGAATTCATGCCTAAGACCTTCAGTGGGATCTTGGAACAGAG
AATAGAGCCTAAATTACCCATCAGGGCCTCAGCCTTCTCCACCACTGTGTCCAATGCCAGAGGA
AGTCGATCAATGCATTCAGTATTCTGAGAAAAGTTTTACTAACACATATTTTGCCAAACGAGAT
GATGTTTGACTATAAAGGAAATAGGCAGACATTCTTATCAAAGGATATAGGGAACGGAACGTAG
TTCTCTTCTACCTTCTTGAAAACTATGTTACAATGAAATCCAGCCAATGAAGAGATGAATCAAA
ATGAAGAACCTAAAACGAGAGCATACTTGCACTCCTGGAGTCTCTCTCCAGCCCTGAACTGTGG
CCAGCACAGTGTGTCAGCCTGTACCAGCTGCCGGTATGGGTGACCTGGGCACAGGCAAGGCCAT
CATCATCACACACTGTGTGCACCAGAACTCCTCTTGGCATCTCCAAGCCAGTTCACCATTGTGT
GAACTGTGCACTGAAGGAGCTCCACTGGGACTCAGAGGCCTTGGCACAACTGCAGCTGTGGAAC
ATTGCGATGAGGAAAGATTGGGAAAATGACAAGAGCCCATTGTCTGGAATTCATAGGTGCATTG
ATTGTCTTCAGTATCACCAGCCCAGCCCCATTTGAAGCAGAGCCAAAGTGGAAAAATGATTTGG
ACTAAACGTTAACTCATGGCAGACCAGTTTCTGTGGTTCTGTTGGCCAAGAAATGTGACCATGG
GAGGATGAATGCAGAAACAGCAGCCTCAAGATGGGCCAGATCTACATGGAACATAGTTTTGTAG
GATAAATTGAAACATCAGCAAAAGAAAATGTGAACTTTGATGAAGCCTCCAGGTGCCTGGATGC
CAAATAGACAAATACAGAATATAAGAAAACACAATAAGAGTCATTGGCCCCGTGCCTATTTGGC
ATCATTGCAAGAAACCTGGGGTAGTAATAGTGGACGTATTTAGAGAGTGAGGCATAAGCTCACC
TAAACAGCCTAGAAAATGTTTACTATGAGAGTAAGAAGGAAGAACACAAGTGGATATACGAGGA
GTCCTTGCAATCTGGCCCATCACGCACCCTTTGCATATCTCTACCTACTTGTGCATAATTCAGC
ATCCAGCAGAGGAAGACAAAATGTTGCGGACAGTTCCTCTACCAGCAGCATGCCTCCCCCAGGA
CAAGCGCAAAGTGAAGACTGGTCGTCGCTTCAGTGAAGAAAGAGATCCTGAACTTTCAACTGTT
TGCCGGAAGTTTGGTACATTAATGTTATATCCAGGGGCTAATATAAGAAGCTGCTAATCTGGAA
GAATTTATATTAGATTCTCCTGTTTATCCTTCTACAATCATCGTCATTGATGGTACACGGAGCC
AGGCTAAGGACATTTTCTGTAAGAATTCCTTGTTCTGACACCCCCAAACAGGTGCAGTTAAAAA
CGAGCATTTCTAGTCAGTATGTAATTCGGATACAGCCAATTAATAGATGTCTTTCTACA

hide sequence

RefSeq Acc Id:

XM_054316598 ⟹ XP_054172573

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	17	36,358,896 - 36,381,567 (-)	NCBI

RefSeq Acc Id:

XM_054316599 ⟹ XP_054172574

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	17	36,358,896 - 36,381,644 (-)	NCBI

RefSeq Acc Id:

XM_054316600 ⟹ XP_054172575

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	17	36,358,896 - 36,381,711 (-)	NCBI

RefSeq Acc Id:

XR_008484852

Type:

NON-CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	17	36,351,811 - 36,381,148 (-)	NCBI

RefSeq Acc Id:

XR_008484853

Type:

NON-CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	17	36,351,811 - 36,380,474 (-)	NCBI

RefSeq Acc Id:

XR_008484854

Type:

NON-CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	17	36,351,811 - 36,381,148 (-)	NCBI

RefSeq Acc Id:

XR_008484855

Type:

NON-CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	17	36,351,811 - 36,381,148 (-)	NCBI

RefSeq Acc Id:

XR_008484856

Type:

NON-CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	17	36,351,811 - 36,381,148 (-)	NCBI

Protein Sequences


Protein RefSeqs	NP_001275938	(Get FASTA)	NCBI Sequence Viewer
	NP_060512	(Get FASTA)	NCBI Sequence Viewer
	XP_005258052	(Get FASTA)	NCBI Sequence Viewer
	XP_024306590	(Get FASTA)	NCBI Sequence Viewer
	XP_054172573	(Get FASTA)	NCBI Sequence Viewer
	XP_054172574	(Get FASTA)	NCBI Sequence Viewer
	XP_054172575	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAH35605	(Get FASTA)	NCBI Sequence Viewer
	BAA91512	(Get FASTA)	NCBI Sequence Viewer
	BAF84515	(Get FASTA)	NCBI Sequence Viewer
	EAW80154	(Get FASTA)	NCBI Sequence Viewer
	EAW80155	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000302077
	ENSP00000302077.5
	ENSP00000378063
	ENSP00000378063.1
	ENSP00000394903
	ENSP00000394903.2
	ENSP00000398315.2
	ENSP00000404175.1
GenBank Protein	Q8IYM2	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:

NP_060512 ⟸ NM_018042

- UniProtKB:

A8K711 (UniProtKB/Swiss-Prot), Q9NP47 (UniProtKB/Swiss-Prot), Q8IYM2 (UniProtKB/Swiss-Prot)

- Sequence:

show sequence

MNISVDLETNYAELVLDVGRVTLGENSRKKMKDCKLRKKQNESVSRAMCALLNSGGGVIKAEIE
NEDYSYTKDGIGLDLENSFSNILLFVPEYLDFMQNGNYFLIFVKSWSLNTSGLRITTLSSNLYK
RDITSAKVMNATAALEFLKDMKKTRGRLYLRPELLAKRPCVDIQEENNMKALAGVFFDRTELDR
KEKLTFTESTHVEIKNFSTEKLLQRIKEILPQYVSAFANTDGGYLFIGLNEDKEIIGFKAEMSD
LDDLEREIEKSIRKMPVHHFCMEKKKINYSCKFLGVYDKGSLCGYVCALRVERFCCAVFAKEPD
SWHVKDNRVMQLTRKEWIQFMVEAEPKFSSSYEEVISQINTSLPAPHSWPLLEWQRQRHHCPGL
SGRITYTPENLCRKLFLQHEGLKQLICEEMDSVRKGSLIFSRSWSVDLGLQENHKVLCDALLIS
QDSPPVLYTFHMVQDEEFKGYSTQTALTLKQKLAKIGGYTKKVCVMTKIFYLSPEGMTSCQYDL
RSQVIYPESYYFTRRKYLLKALFKALKRLKSLRDQFSFAENLYQIIGIDCFQKNDKKMFKSCRR
LT

hide sequence

RefSeq Acc Id:	XP_005258052 ⟸ XM_005257995
- Peptide Label:	isoform X1
- UniProtKB:	A8K711 (UniProtKB/Swiss-Prot), Q9NP47 (UniProtKB/Swiss-Prot), Q8IYM2 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MNISVDLETNYAELVLDVGRVTLGENSRKKMKDCKLRKKQNESVSRAMCALLNSGGGVIKAEIE NEDYSYTKDGIGLDLENSFSNILLFVPEYLDFMQNGNYFLIFVKSWSLNTSGLRITTLSSNLYK RDITSAKVMNATAALEFLKDMKKTRGRLYLRPELLAKRPCVDIQEENNMKALAGVFFDRTELDR KEKLTFTESTHVEIKNFSTEKLLQRIKEILPQYVSAFANTDGGYLFIGLNEDKEIIGFKAEMSD LDDLEREIEKSIRKMPVHHFCMEKKKINYSCKFLGVYDKGSLCGYVCALRVERFCCAVFAKEPD SWHVKDNRVMQLTRKEWIQFMVEAEPKFSSSYEEVISQINTSLPAPHSWPLLEWQRQRHHCPGL SGRITYTPENLCRKLFLQHEGLKQLICEEMDSVRKGSLIFSRSWSVDLGLQENHKVLCDALLIS QDSPPVLYTFHMVQDEEFKGYSTQTALTLKQKLAKIGGYTKKVCVMTKIFYLSPEGMTSCQYDL RSQVIYPESYYFTRRKYLLKALFKALKRLKSLRDQFSFAENLYQIIGIDCFQKNDKKMFKSCRR LT hide sequence

RefSeq Acc Id:

NP_001275938 ⟸ NM_001289009

- UniProtKB:

A8K711 (UniProtKB/Swiss-Prot), Q9NP47 (UniProtKB/Swiss-Prot), Q8IYM2 (UniProtKB/Swiss-Prot)

- Sequence:

show sequence

MNISVDLETNYAELVLDVGRVTLGENSRKKMKDCKLRKKQNESVSRAMCALLNSGGGVIKAEIE
NEDYSYTKDGIGLDLENSFSNILLFVPEYLDFMQNGNYFLIFVKSWSLNTSGLRITTLSSNLYK
RDITSAKVMNATAALEFLKDMKKTRGRLYLRPELLAKRPCVDIQEENNMKALAGVFFDRTELDR
KEKLTFTESTHVEIKNFSTEKLLQRIKEILPQYVSAFANTDGGYLFIGLNEDKEIIGFKAEMSD
LDDLEREIEKSIRKMPVHHFCMEKKKINYSCKFLGVYDKGSLCGYVCALRVERFCCAVFAKEPD
SWHVKDNRVMQLTRKEWIQFMVEAEPKFSSSYEEVISQINTSLPAPHSWPLLEWQRQRHHCPGL
SGRITYTPENLCRKLFLQHEGLKQLICEEMDSVRKGSLIFSRSWSVDLGLQENHKVLCDALLIS
QDSPPVLYTFHMVQDEEFKGYSTQTALTLKQKLAKIGGYTKKVCVMTKIFYLSPEGMTSCQYDL
RSQVIYPESYYFTRRKYLLKALFKALKRLKSLRDQFSFAENLYQIIGIDCFQKNDKKMFKSCRR
LT

hide sequence

RefSeq Acc Id:	XP_024306590 ⟸ XM_024450822
- Peptide Label:	isoform X1
- UniProtKB:	Q8IYM2 (UniProtKB/Swiss-Prot), A8K711 (UniProtKB/Swiss-Prot), Q9NP47 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MNISVDLETNYAELVLDVGRVTLGENSRKKMKDCKLRKKQNESVSRAMCALLNSGGGVIKAEIE NEDYSYTKDGIGLDLENSFSNILLFVPEYLDFMQNGNYFLIFVKSWSLNTSGLRITTLSSNLYK RDITSAKVMNATAALEFLKDMKKTRGRLYLRPELLAKRPCVDIQEENNMKALAGVFFDRTELDR KEKLTFTESTHVEIKNFSTEKLLQRIKEILPQYVSAFANTDGGYLFIGLNEDKEIIGFKAEMSD LDDLEREIEKSIRKMPVHHFCMEKKKINYSCKFLGVYDKGSLCGYVCALRVERFCCAVFAKEPD SWHVKDNRVMQLTRKEWIQFMVEAEPKFSSSYEEVISQINTSLPAPHSWPLLEWQRQRHHCPGL SGRITYTPENLCRKLFLQHEGLKQLICEEMDSVRKGSLIFSRSWSVDLGLQENHKVLCDALLIS QDSPPVLYTFHMVQDEEFKGYSTQTALTLKQKLAKIGGYTKKVCVMTKIFYLSPEGMTSCQYDL RSQVIYPESYYFTRRKYLLKALFKALKRLKSLRDQFSFAENLYQIIGIDCFQKNDKKMFKSCRR LT hide sequence

RefSeq Acc Id:

ENSP00000394903 ⟸ ENST00000452764

RefSeq Acc Id:

ENSP00000404175 ⟸ ENST00000445092

RefSeq Acc Id:

ENSP00000398315 ⟸ ENST00000447040

RefSeq Acc Id:

ENSP00000378063 ⟸ ENST00000394562

RefSeq Acc Id:

ENSP00000302077 ⟸ ENST00000304905

RefSeq Acc Id:	XP_054172575 ⟸ XM_054316600
- Peptide Label:	isoform X1

RefSeq Acc Id:	XP_054172574 ⟸ XM_054316599
- Peptide Label:	isoform X1

RefSeq Acc Id:	XP_054172573 ⟸ XM_054316598
- Peptide Label:	isoform X1

Protein Domains

Poxin-Schlafen/Schlafen-like N-terminal

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q8IYM2-F1-model_v2	AlphaFold	Q8IYM2	1-578	view protein structure

Promoters

RGD ID:

6793686

Promoter ID:

HG_KWN:25784

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

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

Transcripts:

ENST00000394562, NM_018042, OTTHUMT00000256492, OTTHUMT00000256493, OTTHUMT00000256494, UC010CTS.1

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	17	30,783,706 - 30,784,837 (-)	MPROMDB

RGD ID:

7234641

Promoter ID:

EPDNEW_H23066

Type:

initiation region

Name:

SLFN12_1

Description:

schlafen family member 12

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H23067

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	17	35,432,500 - 35,432,560	EPDNEW

RGD ID:

7234643

Promoter ID:

EPDNEW_H23067

Type:

initiation region

Name:

SLFN12_2

Description:

schlafen family member 12

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H23066

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	17	35,433,165 - 35,433,225	EPDNEW

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:25500	AgrOrtholog
COSMIC	SLFN12	COSMIC
Ensembl Genes	ENSG00000172123	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript	ENST00000304905	ENTREZGENE
	ENST00000304905.10	UniProtKB/Swiss-Prot
	ENST00000394562	ENTREZGENE
	ENST00000394562.5	UniProtKB/Swiss-Prot
	ENST00000445092.5	UniProtKB/TrEMBL
	ENST00000447040.6	UniProtKB/TrEMBL
	ENST00000452764	ENTREZGENE
	ENST00000452764.3	UniProtKB/Swiss-Prot
Gene3D-CATH	3.30.950.30	UniProtKB/Swiss-Prot
GTEx	ENSG00000172123	GTEx
HGNC ID	HGNC:25500	ENTREZGENE
Human Proteome Map	SLFN12	Human Proteome Map
InterPro	Poxin-SLFN/SLFN_N	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Schlafen	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Schlafen_AAA_dom	UniProtKB/Swiss-Prot
	Schlafen_AAA_dom_sf	UniProtKB/Swiss-Prot
	SLFN_GTPase-like	UniProtKB/Swiss-Prot
KEGG Report	hsa:55106	UniProtKB/Swiss-Prot
NCBI Gene	55106	ENTREZGENE
OMIM	614955	OMIM
PANTHER	PTHR12155	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	SCHLAFEN FAMILY MEMBER 12	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam	AlbA_2	UniProtKB/Swiss-Prot
	B3R	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	SLFN_GTPase-like	UniProtKB/Swiss-Prot
PharmGKB	PA144596359	PharmGKB
UniProt	A8K711	ENTREZGENE
	C9J4K7_HUMAN	UniProtKB/TrEMBL
	C9JIA1_HUMAN	UniProtKB/TrEMBL
	Q8IYM2	ENTREZGENE
	Q9NP47	ENTREZGENE
	SLN12_HUMAN	UniProtKB/Swiss-Prot
UniProt Secondary	A8K711	UniProtKB/Swiss-Prot
	Q9NP47	UniProtKB/Swiss-Prot

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