RNASE6 (ribonuclease A family member k6)

Gene: RNASE6 (ribonuclease A family member k6) Homo sapiens

Analyze

Symbol:

RNASE6

Name:

ribonuclease A family member k6

RGD ID:

1353772

HGNC Page

HGNC:10048

Description:

Enables RNA nuclease activity. Involved in antibacterial humoral response; antimicrobial humoral immune response mediated by antimicrobial peptide; and innate immune response. Located in cytoplasmic vesicle and extracellular space.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

RAD1; ribonuclease A D1; ribonuclease K6; ribonuclease, RNase A family, k6; RNasek6; RNS6; testicular tissue protein Li 166

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	20,781,070 - 20,782,467 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	14	20,781,268 - 20,782,467 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	14	21,249,427 - 21,250,626 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	14	20,319,050 - 20,320,466 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	14	20,319,049 - 20,320,464	NCBI
Celera	14	1,110,074 - 1,111,490 (+)	NCBI		Celera
Cytogenetic Map	14	q11.2	NCBI
HuRef	14	1,370,222 - 1,371,638 (+)	NCBI		HuRef
CHM1_1	14	21,251,198 - 21,252,614 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	14	14,978,092 - 14,979,588 (+)	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

Brain-Lung-Thyroid Syndrome (IAGP)

genetic disease (IAGP)

liver disease (EXP)

purine nucleoside phosphorylase deficiency (IAGP)

toxic encephalopathy (EXP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

1,2-dimethylhydrazine (ISO)

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

2-butoxyethanol (ISO)

acetylsalicylic acid (EXP)

aflatoxin B1 (EXP)

amphetamine (ISO)

antirheumatic drug (EXP)

arsenite(3-) (EXP)

benzo[a]pyrene (ISO)

bisphenol A (ISO)

buta-1,3-diene (ISO)

cadmium atom (EXP)

cadmium dichloride (EXP)

carbon nanotube (ISO)

CGP 52608 (EXP)

chloroprene (ISO)

chlorpyrifos (ISO)

cisplatin (EXP)

cyclosporin A (EXP)

diclofenac (ISO)

dimethylarsinic acid (ISO)

diquat (ISO)

disodium selenite (EXP)

diuron (EXP)

fragrance (EXP)

gentamycin (ISO)

inulin (ISO)

malathion (ISO)

methylarsonic acid (ISO)

nickel atom (EXP)

nickel sulfate (EXP)

nitrobenzenes (ISO)

paracetamol (ISO)

perfluorooctane-1-sulfonic acid (ISO)

pioglitazone (ISO)

pirinixic acid (EXP)

sodium arsenate (ISO)

sodium arsenite (ISO)

sodium dichromate (EXP)

tetrachloromethane (ISO)

thioacetamide (ISO)

titanium dioxide (ISO)

trichloroethene (ISO)

vincristine (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

antibacterial humoral response (IBA,IDA,IEA)

antimicrobial humoral immune response mediated by antimicrobial peptide (IBA,IDA,IEA)

defense response (TAS)

defense response to bacterium (IEA)

defense response to Gram-negative bacterium (IBA,IEA)

defense response to Gram-positive bacterium (IBA,IEA)

defense response to virus (IDA)

innate immune response (IBA,IDA,IEA)

RNA catabolic process (TAS)

Cellular Component

cytoplasmic vesicle (IDA)

extracellular region (IEA,TAS)

extracellular space (IBA,IDA,IEA)

lysosome (IEA)

Molecular Function

endonuclease activity (IEA)

hydrolase activity (IEA)

nuclease activity (IEA)

nucleic acid binding (IEA)

RNA nuclease activity (IBA,IDA,IEA,TAS)

References

References - curated

#	Reference Title	Reference Citation
1.	GOAs Human GO annotations	GOA_HUMAN data from the GO Consortium
2.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions

Additional References at PubMed

PMID:8836175	PMID:9647635	PMID:9826755	PMID:12477932	PMID:15489334	PMID:15676279	PMID:16169070	PMID:17207965	PMID:21873635	PMID:23376485	PMID:23383108	PMID:24162774
PMID:24337645	PMID:25075772	PMID:27089320	PMID:30287244	PMID:35896049	PMID:37980892

Genomics

Comparative Map Data

RNASE6
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	14	20,781,070 - 20,782,467 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	14	20,781,268 - 20,782,467 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	14	21,249,427 - 21,250,626 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	14	20,319,050 - 20,320,466 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	14	20,319,049 - 20,320,464	NCBI
Celera	14	1,110,074 - 1,111,490 (+)	NCBI		Celera
Cytogenetic Map	14	q11.2	NCBI
HuRef	14	1,370,222 - 1,371,638 (+)	NCBI		HuRef
CHM1_1	14	21,251,198 - 21,252,614 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	14	14,978,092 - 14,979,588 (+)	NCBI		T2T-CHM13v2.0

Rnase6
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	14	51,361,365 - 51,369,644 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	14	51,361,365 - 51,369,644 (+)	Ensembl		GRCm39 Ensembl
GRCm38	14	51,123,908 - 51,132,187 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	14	51,123,908 - 51,132,187 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	14	51,748,743 - 51,750,797 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	14	50,051,041 - 50,052,975 (+)	NCBI		MGSCv36	mm8
Celera	14	47,424,272 - 47,426,326 (+)	NCBI		Celera
Cytogenetic Map	14	C1	NCBI
cM Map	14	26.39	NCBI

Rnase6
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	15	26,827,896 - 26,830,807 (+)	NCBI		GRCr8
mRatBN7.2	15	24,354,305 - 24,357,289 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	15	24,354,303 - 24,357,328 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	15	27,127,289 - 27,127,750 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	15	28,086,431 - 28,086,892 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	15	26,335,850 - 26,336,311 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	15	28,080,307 - 28,084,269 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	15	28,081,004 - 28,081,465 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	15	31,888,498 - 31,906,605 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	15	27,117,646 - 27,118,107 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	15	27,133,345 - 27,133,807 (+)	NCBI
Celera	15	24,673,730 - 24,674,191 (+)	NCBI		Celera
Cytogenetic Map	15	p14	NCBI

Rnase6
(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_004955550	1,687,068 - 1,688,160 (-)	NCBI	ChiLan1.0	ChiLan1.0

RNASE6
(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	22,278,035 - 22,279,920 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	14	21,494,353 - 21,496,407 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	14	1,642,819 - 1,644,582 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	14	19,699,881 - 19,701,303 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	14	19,700,536 - 19,700,988 (+)	Ensembl	panpan1.1		panPan2

LOC106559796
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	15	18,024,375 - 18,025,871 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
Dog10K_Boxer_Tasha	15	18,509,979 - 18,511,491 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	15	18,285,311 - 18,286,754 (+)	NCBI		ROS_Cfam_1.0
UMICH_Zoey_3.1	15	17,966,610 - 17,968,121 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	15	18,022,678 - 18,024,183 (+)	NCBI		UNSW_CanFamBas_1.0

Rnase6
(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	32,168,616 - 32,169,962 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936880	78,081 - 79,021 (+)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936880	78,532 - 79,342 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

RNASE6
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	7	78,220,131 - 78,221,665 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	7	78,220,131 - 78,221,665 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1

RNASE6
(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	29	21,285,708 - 21,287,452 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	29	21,286,685 - 21,287,134 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666059	25,143,712 - 25,145,458 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Rnase6
(Heterocephalus glaber - naked mole-rat)

Naked Mole-Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Naked Mole-Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla_female_1.0 Ensembl	NW_004624825	4,468,213 - 4,469,566 (-)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624825	4,468,213 - 4,469,557 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in RNASE6
6 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 14q11.2(chr14:20151149-23442195)x3	copy number gain	See cases [RCV000050914]	Chr14:20151149..23442195 [GRCh38] Chr14:20619308..23911404 [GRCh37] Chr14:19689148..22981244 [NCBI36] Chr14:14q11.2	pathogenic
GRCh38/hg38 14q11.2(chr14:19755249-22741281)x1	copy number loss	See cases [RCV000051483]	Chr14:19755249..22741281 [GRCh38] Chr14:20223408..23210490 [GRCh37] Chr14:19293248..22280330 [NCBI36] Chr14:14q11.2	pathogenic
GRCh38/hg38 14q11.2-12(chr14:20151149-27723796)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051484]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051484]\|See cases [RCV000051484]	Chr14:20151149..27723796 [GRCh38] Chr14:20619308..28193002 [GRCh37] Chr14:19689148..27262842 [NCBI36] Chr14:14q11.2-12	pathogenic
GRCh38/hg38 14q11.2-21.2(chr14:20196945-45284802)x1	copy number loss	See cases [RCV000051485]	Chr14:20196945..45284802 [GRCh38] Chr14:20665104..45754005 [GRCh37] Chr14:19734944..44823755 [NCBI36] Chr14:14q11.2-21.2	pathogenic
GRCh38/hg38 14q11.2(chr14:20475357-21613255)x1	copy number loss	See cases [RCV000051486]	Chr14:20475357..21613255 [GRCh38] Chr14:20943516..22081409 [GRCh37] Chr14:20013356..21151249 [NCBI36] Chr14:14q11.2	pathogenic
GRCh38/hg38 14q11.2-21.1(chr14:20000611-38984415)x3	copy number gain	See cases [RCV000053803]	Chr14:20000611..38984415 [GRCh38] Chr14:20468770..39453619 [GRCh37] Chr14:19538610..38523370 [NCBI36] Chr14:14q11.2-21.1	pathogenic
GRCh38/hg38 14q11.2(chr14:20127290-21376436)x3	copy number gain	See cases [RCV000053804]	Chr14:20127290..21376436 [GRCh38] Chr14:20595449..21844595 [GRCh37] Chr14:19665289..20914435 [NCBI36] Chr14:14q11.2	pathogenic
GRCh38/hg38 14q11.2-21.1(chr14:20150949-39746154)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053806]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053806]\|See cases [RCV000053806]	Chr14:20150949..39746154 [GRCh38] Chr14:20619108..40215358 [GRCh37] Chr14:19688948..39285109 [NCBI36] Chr14:14q11.2-21.1	pathogenic
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 14q11.2-12(chr14:20412587-25018120)x3	copy number gain	See cases [RCV000137725]	Chr14:20412587..25018120 [GRCh38] Chr14:20880746..25487326 [GRCh37] Chr14:19950586..24557166 [NCBI36] Chr14:14q11.2-12	likely 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 14q11.2-21.2(chr14:20022693-44093672)x3	copy number gain	See cases [RCV000143186]	Chr14:20022693..44093672 [GRCh38] Chr14:20490852..44562875 [GRCh37] Chr14:19560692..43632625 [NCBI36] Chr14:14q11.2-21.2	pathogenic
GRCh38/hg38 14q11.2-21.3(chr14:20043513-48642042)x3	copy number gain	See cases [RCV000143748]	Chr14:20043513..48642042 [GRCh38] Chr14:20511672..49111245 [GRCh37] Chr14:19581512..48180995 [NCBI36] Chr14:14q11.2-21.3	pathogenic
GRCh37/hg19 14q11.2(chr14:20978713-21575128)x3	copy number gain	See cases [RCV000239791]	Chr14:20978713..21575128 [GRCh37] Chr14:14q11.2	uncertain significance
GRCh37/hg19 14q11.2-12(chr14:19100682-28730087)	copy number gain	not provided [RCV000767822]	Chr14:19100682..28730087 [GRCh37] Chr14:14q11.2-12	pathogenic
GRCh37/hg19 14q11.2-12(chr14:19794561-27768254)x3	copy number gain	See cases [RCV000240285]	Chr14:19794561..27768254 [GRCh37] Chr14:14q11.2-12	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 14q11.2-13.1(chr14:19794561-34049214)x3	copy number gain	See cases [RCV000448273]	Chr14:19794561..34049214 [GRCh37] Chr14:14q11.2-13.1	pathogenic
GRCh37/hg19 14q11.2(chr14:21249293-21270474)x1	copy number loss	See cases [RCV000448573]	Chr14:21249293..21270474 [GRCh37] Chr14:14q11.2	uncertain significance
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 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 14q11.2(chr14:21159605-22252320)x4	copy number gain	not provided [RCV001006607]	Chr14:21159605..22252320 [GRCh37] Chr14:14q11.2	likely pathogenic
GRCh37/hg19 14q11.2(chr14:21143933-23297667)x1	copy number loss	not provided [RCV001006606]	Chr14:21143933..23297667 [GRCh37] Chr14:14q11.2	pathogenic
GRCh37/hg19 14q11.2-21.2(chr14:20511672-44829030)x3	copy number gain	not provided [RCV001006605]	Chr14:20511672..44829030 [GRCh37] Chr14:14q11.2-21.2	pathogenic
GRCh37/hg19 14q11.2-21.1(chr14:20511672-42881888)x3	copy number gain	not provided [RCV001249358]	Chr14:20511672..42881888 [GRCh37] Chr14:14q11.2-21.1	not provided
GRCh37/hg19 14q11.2(chr14:20511672-21915516)x1	copy number loss	not provided [RCV001259176]	Chr14:20511672..21915516 [GRCh37] Chr14:14q11.2	pathogenic
GRCh37/hg19 14q11.2-21.3(chr14:20511672-47481203)	copy number gain	Seizure [RCV002280625]	Chr14:20511672..47481203 [GRCh37] Chr14:14q11.2-21.3	pathogenic
GRCh37/hg19 14q11.2(chr14:20925965-23649548)x3	copy number gain	14q11.2 microduplication [RCV001786536]	Chr14:20925965..23649548 [GRCh37] Chr14:14q11.2	likely pathogenic
NC_000014.8:g.(21162263_36986276)_(36987308_50713602)del	deletion	Brain-lung-thyroid syndrome [RCV002221171]	Chr14:36986276..36987308 [GRCh37] Chr14:14q11.2-21.3	pathogenic
NC_000014.8:g.(?_20915399)_(22005055_?)del	deletion	Purine-nucleoside phosphorylase deficiency [RCV003109308]	Chr14:20915399..22005055 [GRCh37] Chr14:14q11.2	pathogenic
GRCh37/hg19 14q11.2(chr14:20690196-23114522)x1	copy number loss	not provided [RCV002474574]	Chr14:20690196..23114522 [GRCh37] Chr14:14q11.2	pathogenic
NM_005615.5(RNASE6):c.413C>G (p.Pro138Arg)	single nucleotide variant	Inborn genetic diseases [RCV002970087]	Chr14:20782112 [GRCh38] Chr14:21250271 [GRCh37] Chr14:14q11.2	uncertain significance
NM_005615.5(RNASE6):c.92C>G (p.Ala31Gly)	single nucleotide variant	Inborn genetic diseases [RCV002945690]	Chr14:20781791 [GRCh38] Chr14:21249950 [GRCh37] Chr14:14q11.2	uncertain significance
NM_005615.5(RNASE6):c.363G>C (p.Gln121His)	single nucleotide variant	Inborn genetic diseases [RCV002916571]	Chr14:20782062 [GRCh38] Chr14:21250221 [GRCh37] Chr14:14q11.2	uncertain significance
NM_005615.5(RNASE6):c.80G>A (p.Arg27His)	single nucleotide variant	Inborn genetic diseases [RCV002698571]	Chr14:20781779 [GRCh38] Chr14:21249938 [GRCh37] Chr14:14q11.2	likely benign
NM_005615.5(RNASE6):c.169A>T (p.Thr57Ser)	single nucleotide variant	Inborn genetic diseases [RCV003378931]	Chr14:20781868 [GRCh38] Chr14:21250027 [GRCh37] Chr14:14q11.2	uncertain significance
GRCh37/hg19 14q11.2-23.1(chr14:20511673-61826023)x3	copy number gain	not provided [RCV003485022]	Chr14:20511673..61826023 [GRCh37] Chr14:14q11.2-23.1	pathogenic

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	141
Count of miRNA genes:	139
Interacting mature miRNAs:	141
Transcripts:	ENST00000304677
Prediction methods:	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.

Markers in Region

D14S1291

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	14	21,250,433 - 21,250,582	UniSTS	GRCh37
Build 36	14	20,320,273 - 20,320,422	RGD	NCBI36
Celera	14	1,111,297 - 1,111,446	RGD
Cytogenetic Map	14	q11.2	UniSTS
HuRef	14	1,371,445 - 1,371,594	UniSTS
Stanford-G3 RH Map	14	24.0	UniSTS
NCBI RH Map	14	28.0	UniSTS
GeneMap99-G3 RH Map	14	24.0	UniSTS

G36118

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	14	21,247,365 - 21,247,478	UniSTS	GRCh37
Build 36	14	20,317,205 - 20,317,318	RGD	NCBI36
Celera	14	1,108,228 - 1,108,341	RGD
Cytogenetic Map	14	q11.2	UniSTS
HuRef	14	1,368,359 - 1,368,472	UniSTS

G35567

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	14	21,247,252 - 21,247,366	UniSTS	GRCh37
Build 36	14	20,317,092 - 20,317,206	RGD	NCBI36
Celera	14	1,108,115 - 1,108,229	RGD
Cytogenetic Map	14	q11.2	UniSTS
HuRef	14	1,368,246 - 1,368,360	UniSTS

Expression

RNA-SEQ Expression

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

alimentary part of gastrointestinal system

circulatory system

endocrine system

exocrine system

hemolymphoid system

hepatobiliary system

integumental system

musculoskeletal system

nervous system

renal system

reproductive system

respiratory system

sensory system

adipose tissue

appendage

entire extraembryonic component

pharyngeal arch

High

Medium

1231

1702

577

226

1730

134

1925

372

961

200

452

789

1016

1170

Low

1120

1224

1089

355

135

286

2050

1576

2428

168

882

601

188

1464

Below cutoff

291

214

253

153

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_005615	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_017021566	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_017021567	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054376539	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054376540	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AI151384	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK313580	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL133371	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC020848	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471078	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068264	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CR456965	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	HG328838	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	HM005479	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	U64998	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

RefSeq Acc Id:

ENST00000304677 ⟹ ENSP00000302046

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	14	20,781,268 - 20,782,467 (+)	Ensembl

RefSeq Acc Id:

NM_005615 ⟹ NP_005606

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	14	20,781,268 - 20,782,467 (+)	NCBI
GRCh37	14	21,249,210 - 21,250,626 (+)	RGD
Build 36	14	20,319,050 - 20,320,466 (+)	NCBI Archive
Celera	14	1,110,074 - 1,111,490 (+)	RGD
HuRef	14	1,370,222 - 1,371,638 (+)	RGD
CHM1_1	14	21,251,198 - 21,252,614 (+)	NCBI
T2T-CHM13v2.0	14	14,978,389 - 14,979,588 (+)	NCBI

Sequence:

show sequence

AGACAACAGCTTCTGAGCTTTGGACTAATCACAGCCTCTGTTCTCAGCAGGAGCCCCAACACTG
AGACCAGAAAAGATGGTGCTATGCTTTCCTCTTCTTTTACTGCTGCTGGTTCTATGGGGACCAG
TGTGTCCACTTCATGCTTGGCCTAAGCGTCTCACCAAGGCTCACTGGTTTGAAATTCAGCATAT
ACAGCCAAGTCCTCTCCAATGCAACAGGGCAATGAGTGGCATCAACAATTATACCCAGCACTGT
AAGCATCAAAATACCTTTCTGCATGACTCTTTCCAGAATGTGGCTGCTGTCTGTGATTTGCTCA
GCATTGTCTGCAAAAATCGTCGGCACAACTGCCACCAGAGCTCAAAGCCTGTCAACATGACTGA
CTGCAGACTCACTTCAGGAAAGTATCCCCAGTGCCGCTATAGTGCTGCTGCCCAGTACAAATTC
TTCATTGTTGCCTGTGACCCCCCTCAGAAGAGCGATCCCCCCTACAAGTTGGTTCCTGTACACT
TAGATAGTATTCTCTAAGGCATCCACTGCATTTCCTTTCATTTGACATAGCTTCTGTTACAATT
GCATCCATGTTTTCTTTTCTTTTGTTGATTTTCTTGTTCCCGTAGAAGAAAGAAGAAAGGTGTT
TGGAGAATTCGAGTGCCTAGGATGCCAGACCAGAGTTGAGACAAAAAGAAATAAGATTATTTTC
TGCTTTGTAGTTCTGTACTTTTCGAGAGAAGGGAATAGGGAAGACAGCAAAGAAAGATTCAGAT
TTCTAACCCTGCAACTTTTGCCAAGCTTTATTGCCCTGTGTTCACAGCAATAAAACCACTTCCT
GCTGCATTCTAA

hide sequence

RefSeq Acc Id:

XM_017021566 ⟹ XP_016877055

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	14	20,781,070 - 20,782,467 (+)	NCBI

Sequence:

show sequence

GTTTTCAGTCATGTTGTTTCTTTAAGTTGGTTTAGCCTTCCTGTATACATGTGATAATGATACT
GTTTTAAAGAACAGGGCTCGAAGGGTTAGAGAAGAAAGGCAGACAACAGCTTCTGAGCTTTGGA
CTAATCACAGCCTCTGTTCTCAGCAGGAGCCCCAACACTGAGACCAGAAAAGATGGTGCTATGC
TTTCCTCTTCTTTTACTGCTGCTGGTTCTATGGGGACCAGTGTGTCCACTTCATGCTTGGCCTA
AGCGTCTCACCAAGGCTCACTGGTTTGAAATTCAGCATATACAGCCAAGTCCTCTCCAATGCAA
CAGGGCAATGAGTGGCATCAACAATTATACCCAGCACTGTAAGCATCAAAATACCTTTCTGCAT
GACTCTTTCCAGAATGTGGCTGCTGTCTGTGATTTGCTCAGCATTGTCTGCAAAAATCGTCGGC
ACAACTGCCACCAGAGCTCAAAGCCTGTCAACATGACTGACTGCAGACTCACTTCAGGAAAGTA
TCCCCAGTGCCGCTATAGTGCTGCTGCCCAGTACAAATTCTTCATTGTTGCCTGTGACCCCCCT
CAGAAGAGCGATCCCCCCTACAAGTTGGTTCCTGTACACTTAGATAGTATTCTCTAAGGCATCC
ACTGCATTTCCTTTCATTTGACATAGCTTCTGTTACAATTGCATCCATGTTTTCTTTTCTTTTG
TTGATTTTCTTGTTCCCGTAGAAGAAAGAAGAAAGGTGTTTGGAGAATTCGAGTGCCTAGGATG
CCAGACCAGAGTTGAGACAAAAAGAAATAAGATTATTTTCTGCTTTGTAGTTCTGTACTTTTCG
AGAGAAGGGAATAGGGAAGACAGCAAAGAAAGATTCAGATTTCTAACCCTGCAACTTTTGCCAA
GCTTTATTGCCCTGTGTTCACAGCAATAAAACCACTTCCTGCTGCATTCTAA

hide sequence

RefSeq Acc Id:

XM_054376539 ⟹ XP_054232514

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	14	14,978,092 - 14,979,588 (+)	NCBI

RefSeq Acc Id:

XM_054376540 ⟹ XP_054232515

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	14	14,978,172 - 14,979,588 (+)	NCBI

Protein Sequences


Protein RefSeqs	NP_005606	(Get FASTA)	NCBI Sequence Viewer
	XP_016877055	(Get FASTA)	NCBI Sequence Viewer
	XP_054232514	(Get FASTA)	NCBI Sequence Viewer
	XP_054232515	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAC51848	(Get FASTA)	NCBI Sequence Viewer
	AAH20848	(Get FASTA)	NCBI Sequence Viewer
	AEE61077	(Get FASTA)	NCBI Sequence Viewer
	BAG36350	(Get FASTA)	NCBI Sequence Viewer
	CAG33246	(Get FASTA)	NCBI Sequence Viewer
	CDG31914	(Get FASTA)	NCBI Sequence Viewer
	EAW66440	(Get FASTA)	NCBI Sequence Viewer
	EAW66441	(Get FASTA)	NCBI Sequence Viewer
	EAW66442	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000302046
	ENSP00000302046.2
GenBank Protein	Q93091	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_005606 ⟸ NM_005615
- Peptide Label:	precursor
- UniProtKB:	Q93091 (UniProtKB/Swiss-Prot), Q6IB39 (UniProtKB/TrEMBL)
- Sequence:	show sequence MVLCFPLLLLLLVLWGPVCPLHAWPKRLTKAHWFEIQHIQPSPLQCNRAMSGINNYTQHCKHQN TFLHDSFQNVAAVCDLLSIVCKNRRHNCHQSSKPVNMTDCRLTSGKYPQCRYSAAAQYKFFIVA CDPPQKSDPPYKLVPVHLDSIL hide sequence

RefSeq Acc Id:	XP_016877055 ⟸ XM_017021566
- Peptide Label:	isoform X1
- UniProtKB:	Q93091 (UniProtKB/Swiss-Prot), Q6IB39 (UniProtKB/TrEMBL)
- Sequence:	show sequence MVLCFPLLLLLLVLWGPVCPLHAWPKRLTKAHWFEIQHIQPSPLQCNRAMSGINNYTQHCKHQN TFLHDSFQNVAAVCDLLSIVCKNRRHNCHQSSKPVNMTDCRLTSGKYPQCRYSAAAQYKFFIVA CDPPQKSDPPYKLVPVHLDSIL hide sequence

RefSeq Acc Id:

ENSP00000302046 ⟸ ENST00000304677

RefSeq Acc Id:	XP_054232514 ⟸ XM_054376539
- Peptide Label:	isoform X1
- UniProtKB:	Q93091 (UniProtKB/Swiss-Prot), Q6IB39 (UniProtKB/TrEMBL)

RefSeq Acc Id:	XP_054232515 ⟸ XM_054376540
- Peptide Label:	isoform X1
- UniProtKB:	Q93091 (UniProtKB/Swiss-Prot), Q6IB39 (UniProtKB/TrEMBL)

Protein Domains

Ribonuclease A-domain

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q93091-F1-model_v2	AlphaFold	Q93091	1-150	view protein structure

Promoters

RGD ID:

6791847

Promoter ID:

HG_KWN:18787

Type:

Non-CpG

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

Lymphoblastoid

Transcripts:

NM_005615, UC010AIC.1

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	14	20,318,946 - 20,319,446 (+)	MPROMDB

RGD ID:

7226983

Promoter ID:

EPDNEW_H19237

Type:

initiation region

Name:

RNASE6_1

Description:

ribonuclease A family member k6

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	20,781,070 - 20,781,130	EPDNEW

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:10048	AgrOrtholog
COSMIC	RNASE6	COSMIC
Ensembl Genes	ENSG00000169413	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000304677	ENTREZGENE
	ENST00000304677.3	UniProtKB/Swiss-Prot
Gene3D-CATH	3.10.130.10	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx	ENSG00000169413	GTEx
HGNC ID	HGNC:10048	ENTREZGENE
Human Proteome Map	RNASE6	Human Proteome Map
InterPro	RNaseA	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	RNaseA-like_dom_sf	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	RNaseA_AS	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	RNaseA_domain	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	hsa:6039	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene	6039	ENTREZGENE
OMIM	601981	OMIM
PANTHER	PTHR11437	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	RIBONUCLEASE K6	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam	RnaseA	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA34416	PharmGKB, RGD
PRINTS	RIBONUCLEASE	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE	RNASE_PANCREATIC	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART	RNAse_Pc	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP	SSF54076	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt	Q6IB39	ENTREZGENE, UniProtKB/TrEMBL
	Q93091	ENTREZGENE, UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2016-01-26	RNASE6	ribonuclease A family member k6		ribonuclease, RNase A family, k6	Symbol and/or name change	5135510	APPROVED

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

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

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

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

Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

Send us a Message

Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD