CGRRF1 (cell growth regulator with ring finger domain 1)

Gene: CGRRF1 (cell growth regulator with ring finger domain 1) Sus scrofa

Analyze

Symbol:

CGRRF1

Name:

cell growth regulator with ring finger domain 1

RGD ID:

14150809

Description:

INVOLVED IN negative regulation of cell growth (ortholog); ASSOCIATED WITH dystonia 5 (ortholog); genetic disease (ortholog); syndromic microphthalmia 6 (ortholog); FOUND IN endoplasmic reticulum (inferred); intracellular membrane-bounded organelle (inferred); membrane (inferred); INTERACTS WITH deoxynivalenol

Type:

protein-coding

RefSeq Status:

MODEL

Previously known as:

cell growth regulator with RING finger domain protein 1

RGD Orthologs

Alliance Genes

More Info

more info ...

Latest Assembly:

Sscrofa11.1 - Pig Sscrofa11.1 Assembly

Position:

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	1	183,876,919 - 183,903,897 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	1	183,863,459 - 183,903,803 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

dystonia 5 (ISO)

genetic disease (ISO)

syndromic microphthalmia 6 (ISO)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

deoxynivalenol (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

negative regulation of cell growth (IBA,IEA,ISO)

Cellular Component

endoplasmic reticulum (IEA)

intracellular membrane-bounded organelle (IEA)

membrane (IEA)

nucleoplasm (IEA)

Molecular Function

protein binding (ISO)

References

Additional References at PubMed

PMID:30032202

Genomics

Comparative Map Data

CGRRF1
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	1	183,876,919 - 183,903,897 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	1	183,863,459 - 183,903,803 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1

CGRRF1
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	14	54,509,906 - 54,539,292 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	14	54,509,812 - 54,539,292 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	14	54,976,624 - 55,006,010 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	14	54,046,337 - 54,075,084 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	14	54,046,336 - 54,075,084	NCBI
Celera	14	35,026,117 - 35,054,859 (+)	NCBI		Celera
Cytogenetic Map	14	q22.2	NCBI
HuRef	14	35,139,231 - 35,168,038 (+)	NCBI		HuRef
CHM1_1	14	54,915,302 - 54,944,048 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	14	48,715,069 - 48,744,462 (+)	NCBI		T2T-CHM13v2.0

Cgrrf1
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	14	47,069,591 - 47,091,655 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	14	47,069,582 - 47,091,650 (+)	Ensembl		GRCm39 Ensembl
GRCm38	14	46,832,134 - 46,854,198 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	14	46,832,125 - 46,854,193 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	14	47,451,919 - 47,473,865 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	14	45,754,121 - 45,776,067 (+)	NCBI		MGSCv36	mm8
Celera	14	43,006,333 - 43,028,378 (+)	NCBI		Celera
Cytogenetic Map	14	C1	NCBI
cM Map	14	24.34	NCBI

Cgrrf1
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	15	22,560,902 - 22,588,815 (+)	NCBI		GRCr8
mRatBN7.2	15	20,088,564 - 20,109,042 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	15	20,088,571 - 20,109,037 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	15	22,869,313 - 22,889,742 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	15	23,827,307 - 23,847,736 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	15	22,077,598 - 22,098,042 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	15	23,619,176 - 23,639,622 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	15	23,619,123 - 23,639,628 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	15	27,562,664 - 27,583,110 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	15	22,683,387 - 22,703,833 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	15	22,699,086 - 22,719,533 (+)	NCBI
Celera	15	20,486,913 - 20,507,359 (+)	NCBI		Celera
Cytogenetic Map	15	p14	NCBI

Cgrrf1
(Chinchilla lanigera - long-tailed chinchilla)

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0 Ensembl	NW_004955409	8,939,521 - 8,966,351 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955409	8,939,793 - 8,966,351 (-)	NCBI	ChiLan1.0	ChiLan1.0

CGRRF1
(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	55,628,211 - 55,660,946 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	14	54,847,901 - 54,877,462 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	14	35,096,716 - 35,126,072 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	14	53,374,648 - 53,404,122 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	14	53,374,648 - 53,404,122 (+)	Ensembl	panpan1.1		panPan2

CGRRF1
(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	30,419,716 - 30,449,616 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	8	30,419,772 - 30,448,577 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	8	30,188,309 - 30,218,202 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	8	30,676,833 - 30,706,769 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	8	30,676,881 - 30,706,946 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	8	30,280,955 - 30,310,909 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	8	30,357,426 - 30,387,463 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	8	30,723,002 - 30,753,117 (+)	NCBI		UU_Cfam_GSD_1.0

Cgrrf1
(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	74,797,701 - 74,831,731 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936697	569,148 - 605,945 (-)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936697	573,477 - 605,899 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

CGRRF1
(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	31,686,757 - 31,715,593 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
Vero_WHO_p1.0	NW_023666053	19,916,271 - 19,944,701 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Cgrrf1
(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_004624731	14,760,426 - 14,787,582 (-)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624731	14,761,560 - 14,790,277 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in CGRRF1
847 total Variants

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	hemolymphoid system	musculoskeletal system	nervous system	renal system	reproductive system	respiratory system
High
Medium	7		3	1		7		2
Low	3	4		4	2	16	2	1	3
Below cutoff

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	XM_021102210	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_021102212	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_021102214	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_021102217	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XR_002346942	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AEMK02000004	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	GFLN01118445	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

RefSeq Acc Id:

ENSSSCT00000027967 ⟹ ENSSSCP00000021693

Type:

CODING

Position:

Pig Assembly	Chr	Position (strand)	Source
Sscrofa11.1 Ensembl	1	183,876,919 - 183,903,897 (+)	Ensembl

RefSeq Acc Id:

XM_021102210 ⟹ XP_020957869

Type:

CODING

Position:

Pig Assembly	Chr	Position (strand)	Source
Sscrofa11.1	1	183,876,859 - 183,903,803 (+)	NCBI

Sequence:

show sequence

GCCTTTAACCCTGGCGGAGTGGGCGGGGCTGCGCTAGGCTGGGCTGGGCGGCTAGAGCCCGGCT
CAGCTTTGGAGACCTGATGGCTGCGGTGTTTCTGGTAACGCTCTATGAGTACTCGCCGCTTTTC
TATATTGCAGTGGTCTTTACGTGCTTCATCGTGACTACTGGCCTGGTGTTGGGATGGTTTGGTT
GGGATGTTCCAGTAATTCTGAGAAATTCAGAAGAGACCCAATTCAACACAAGAGTTTTCAAAAA
GCAAATGAGACAAGTCAAGAATCCTTTTGGCTTAGAGATCACCAATCCATCTTCAGCTTCAATT
ACAACTGGCATAACTTTGAGAACAGATTGCCTTGAAGACAGCCTCCTTACATGCTACTGGGGGT
GCAGTGTTCAAAGATTATATGAAGCTCTGCAGAAACACTTTTATTGCTTCCGAATAAGCACTCC
CCGAGCATTGGATGATGCTCTGTATAGTGAATATCTCTATCAAGAGCAGTATTTTATTAAAAAG
GACAGCAAAGAAGAAATATATTGCCAGTTACCAAGAGAGAACAAAATTGAAGATTTTGGTATGG
TGCCCAGATCTCGTTATCCACTTGTAGCCCTGTTGACCCTGGCCGATGAGGATGACCGAGAAAT
TTATGATATTATTTCTATGGTGTCAGTAATTCATATTCCTGATAAGACTTATAAACTCTCATGT
AGAATATTATATCAATATTTACTCCTGGCTCAAGGTCAATTTCATGATCTTAAGCAACTTTTCA
TGTCTGCAAATAATAATTCCACTCCCTCCAGCAATTCCTCTCCAGAAGGAAAAAATACAGACCA
AAGCTTGATGGAAAAGGCAGGACTATCTGAAAGTGAAGTAGAGCCACTGGAGGAGAACAGCAAG
GACTGTGTGGTTTGCCAGAATGGGACAGTGAACTGGGTGCTCTTGCCGTGTAGACACACATGCT
TGTGTGATGGCTGTGTTAAGTATTTTCAGCAGTGCCCTATGTGCAGGCAGTTTGTTCAGGAATC
TTTTGCACTTTGCAGTCAAAAAGAGCAAGATAAAGACAAACTGAAAAGTCTCTGAGGATGTTGT
TACTACTGAAAAGTACACTTTCCACTGAAGATGCAAACATATGTTCTTAGAATTAATCATAACA
TGGAATCTACGGTATTAAACATCAGTGAAAATTCTGTTTTAACTTCATATTTGTACATGGTACA
TGGATGATGAAAATGAGTTATTCCTTGCTGTTCACTATGGCAAACACTGGAATCCTATTCAGTG
TCAACGCATAAAAATTCATCCAACTCTCGAGAAGAATGTAAACGTTTGGACTTTTATCAGCTGG
TGGATTTCATGTAATGTCCATGAGAAAACTTCTGAAAATCAATCCATCCAAAATTTGAGGAAGT
AAAAGTCTTAAGATTTTTCAATGTTTTTCCTTTGACATAATCTGGAGTTCAATTGGGTAAAAAC
TAATTTCTTCTTAAAGTACTTGTATATTCCCTAGTTTACAAAAGAGTAGGAAAGGGCTTCTAAC
TTTAAATCCTTTCATATCAGTTTTTATAAATATCCATCTGTTTAGTTTCTAATTTTCTTATAAT
CATAGTCATATAAACACGTCTTAATTTTTAAATATAGTTTCTTAAATCATAAATGCAAGATACA
GATCTTGACTGTTCTCAGTGTATCATAGATTAAAATGATACTCATTTATAGGAAGCAGATATAT
AAATCATGGGTAATAAAATTTCTTGGATAATTAAATTTATTGTCAAAGATGATTAGATTAGCAG
AATGTGACCTATCAGGAAGATCTATGAGATTTTAATGCCTTACCTTACATTTCCTCCTGCACAA
GGAATCTATCCAAAACTGGAGGGTTTTTAGAGCCAGAAAAATCACTAAAAGAAGCAAATAACTA
TATTTTTCTAGTGTGGTTTTTATTCCAAATAAACCCCATGTCCTCTGAATAGTAAATCACTTTC
TTTATCTCCTGTTTCATCCTCTTAAGAATTGAGGAAATGGAAAGATGGAAAGTCAAAAAAAAAA
AAAAAAAAAAAAGAGCCCCCACTCCTCACTTTCTCCAGGATGACCCAGAAGAAAAAAGTAAATC
AGAGCTTCCTGTTTCTTTGGTGGAAATTACCTTTAATTCGCTAAGAAATTAGATCATGGTAAAT
AAACTATGACATGCAGGGAGATTTCCAAA

hide sequence

RefSeq Acc Id:

XM_021102212 ⟹ XP_020957871

Type:

CODING

Position:

Pig Assembly	Chr	Position (strand)	Source
Sscrofa11.1	1	183,873,455 - 183,903,803 (+)	NCBI

Sequence:

show sequence

CATTTTCTGAATGAAGAAGTAAGAGGTTTGGTTGGGATGTTCCAGTAATTCTGAGAAATTCAGA
AGAGACCCAATTCAACACAAGAGTTTTCAAAAAGCAAATGAGACAAGTCAAGAATCCTTTTGGC
TTAGAGATCACCAATCCATCTTCAGCTTCAATTACAACTGGCATAACTTTGAGAACAGATTGCC
TTGAAGACAGCCTCCTTACATGCTACTGGGGGTGCAGTGTTCAAAGATTATATGAAGCTCTGCA
GAAACACTTTTATTGCTTCCGAATAAGCACTCCCCGAGCATTGGATGATGCTCTGTATAGTGAA
TATCTCTATCAAGAGCAGTATTTTATTAAAAAGGACAGCAAAGAAGAAATATATTGCCAGTTAC
CAAGAGAGAACAAAATTGAAGATTTTGGTATGGTGCCCAGATCTCGTTATCCACTTGTAGCCCT
GTTGACCCTGGCCGATGAGGATGACCGAGAAATTTATGATATTATTTCTATGGTGTCAGTAATT
CATATTCCTGATAAGACTTATAAACTCTCATGTAGAATATTATATCAATATTTACTCCTGGCTC
AAGGTCAATTTCATGATCTTAAGCAACTTTTCATGTCTGCAAATAATAATTCCACTCCCTCCAG
CAATTCCTCTCCAGAAGGAAAAAATACAGACCAAAGCTTGATGGAAAAGGCAGGACTATCTGAA
AGTGAAGTAGAGCCACTGGAGGAGAACAGCAAGGACTGTGTGGTTTGCCAGAATGGGACAGTGA
ACTGGGTGCTCTTGCCGTGTAGACACACATGCTTGTGTGATGGCTGTGTTAAGTATTTTCAGCA
GTGCCCTATGTGCAGGCAGTTTGTTCAGGAATCTTTTGCACTTTGCAGTCAAAAAGAGCAAGAT
AAAGACAAACTGAAAAGTCTCTGAGGATGTTGTTACTACTGAAAAGTACACTTTCCACTGAAGA
TGCAAACATATGTTCTTAGAATTAATCATAACATGGAATCTACGGTATTAAACATCAGTGAAAA
TTCTGTTTTAACTTCATATTTGTACATGGTACATGGATGATGAAAATGAGTTATTCCTTGCTGT
TCACTATGGCAAACACTGGAATCCTATTCAGTGTCAACGCATAAAAATTCATCCAACTCTCGAG
AAGAATGTAAACGTTTGGACTTTTATCAGCTGGTGGATTTCATGTAATGTCCATGAGAAAACTT
CTGAAAATCAATCCATCCAAAATTTGAGGAAGTAAAAGTCTTAAGATTTTTCAATGTTTTTCCT
TTGACATAATCTGGAGTTCAATTGGGTAAAAACTAATTTCTTCTTAAAGTACTTGTATATTCCC
TAGTTTACAAAAGAGTAGGAAAGGGCTTCTAACTTTAAATCCTTTCATATCAGTTTTTATAAAT
ATCCATCTGTTTAGTTTCTAATTTTCTTATAATCATAGTCATATAAACACGTCTTAATTTTTAA
ATATAGTTTCTTAAATCATAAATGCAAGATACAGATCTTGACTGTTCTCAGTGTATCATAGATT
AAAATGATACTCATTTATAGGAAGCAGATATATAAATCATGGGTAATAAAATTTCTTGGATAAT
TAAATTTATTGTCAAAGATGATTAGATTAGCAGAATGTGACCTATCAGGAAGATCTATGAGATT
TTAATGCCTTACCTTACATTTCCTCCTGCACAAGGAATCTATCCAAAACTGGAGGGTTTTTAGA
GCCAGAAAAATCACTAAAAGAAGCAAATAACTATATTTTTCTAGTGTGGTTTTTATTCCAAATA
AACCCCATGTCCTCTGAATAGTAAATCACTTTCTTTATCTCCTGTTTCATCCTCTTAAGAATTG
AGGAAATGGAAAGATGGAAAGTCAAAAAAAAAAAAAAAAAAAAAAGAGCCCCCACTCCTCACTT
TCTCCAGGATGACCCAGAAGAAAAAAGTAAATCAGAGCTTCCTGTTTCTTTGGTGGAAATTACC
TTTAATTCGCTAAGAAATTAGATCATGGTAAATAAACTATGACATGCAGGGAGATTTCCAAA

hide sequence

RefSeq Acc Id:

XM_021102214 ⟹ XP_020957873

Type:

CODING

Position:

Pig Assembly	Chr	Position (strand)	Source
Sscrofa11.1	1	183,863,485 - 183,903,798 (+)	NCBI

Sequence:

show sequence

CAGTGGACGCTATCGGATTCGGAGTGGAGGACTTCCAGTGCCAAAATGTATCCTCAAAATTCGA
GCCAGTTTTTGCTTCCTTTCAACCCTCCTCAATCTCTGAGAGAAATTTCATGGTGACATGATTG
AGTCAACGATTTCAATGGTTTGGTTGGGATGTTCCAGTAATTCTGAGAAATTCAGAAGAGACCC
AATTCAACACAAGAGTTTTCAAAAAGCAAATGAGACAAGTCAAGAATCCTTTTGGCTTAGAGAT
CACCAATCCATCTTCAGCTTCAATTACAACTGGCATAACTTTGAGAACAGATTGCCTTGAAGAC
AGCCTCCTTACATGCTACTGGGGGTGCAGTGTTCAAAGATTATATGAAGCTCTGCAGAAACACT
TTTATTGCTTCCGAATAAGCACTCCCCGAGCATTGGATGATGCTCTGTATAGTGAATATCTCTA
TCAAGAGCAGTATTTTATTAAAAAGGACAGCAAAGAAGAAATATATTGCCAGTTACCAAGAGAG
AACAAAATTGAAGATTTTGGTATGGTGCCCAGATCTCGTTATCCACTTGTAGCCCTGTTGACCC
TGGCCGATGAGGATGACCGAGAAATTTATGATATTATTTCTATGGTGTCAGTAATTCATATTCC
TGATAAGACTTATAAACTCTCATGTAGAATATTATATCAATATTTACTCCTGGCTCAAGGTCAA
TTTCATGATCTTAAGCAACTTTTCATGTCTGCAAATAATAATTCCACTCCCTCCAGCAATTCCT
CTCCAGAAGGAAAAAATACAGACCAAAGCTTGATGGAAAAGGCAGGACTATCTGAAAGTGAAGT
AGAGCCACTGGAGGAGAACAGCAAGGACTGTGTGGTTTGCCAGAATGGGACAGTGAACTGGGTG
CTCTTGCCGTGTAGACACACATGCTTGTGTGATGGCTGTGTTAAGTATTTTCAGCAGTGCCCTA
TGTGCAGGCAGTTTGTTCAGGAATCTTTTGCACTTTGCAGTCAAAAAGAGCAAGATAAAGACAA
ACTGAAAAGTCTCTGAGGATGTTGTTACTACTGAAAAGTACACTTTCCACTGAAGATGCAAACA
TATGTTCTTAGAATTAATCATAACATGGAATCTACGGTATTAAACATCAGTGAAAATTCTGTTT
TAACTTCATATTTGTACATGGTACATGGATGATGAAAATGAGTTATTCCTTGCTGTTCACTATG
GCAAACACTGGAATCCTATTCAGTGTCAACGCATAAAAATTCATCCAACTCTCGAGAAGAATGT
AAACGTTTGGACTTTTATCAGCTGGTGGATTTCATGTAATGTCCATGAGAAAACTTCTGAAAAT
CAATCCATCCAAAATTTGAGGAAGTAAAAGTCTTAAGATTTTTCAATGTTTTTCCTTTGACATA
ATCTGGAGTTCAATTGGGTAAAAACTAATTTCTTCTTAAAGTACTTGTATATTCCCTAGTTTAC
AAAAGAGTAGGAAAGGGCTTCTAACTTTAAATCCTTTCATATCAGTTTTTATAAATATCCATCT
GTTTAGTTTCTAATTTTCTTATAATCATAGTCATATAAACACGTCTTAATTTTTAAATATAGTT
TCTTAAATCATAAATGCAAGATACAGATCTTGACTGTTCTCAGTGTATCATAGATTAAAATGAT
ACTCATTTATAGGAAGCAGATATATAAATCATGGGTAATAAAATTTCTTGGATAATTAAATTTA
TTGTCAAAGATGATTAGATTAGCAGAATGTGACCTATCAGGAAGATCTATGAGATTTTAATGCC
TTACCTTACATTTCCTCCTGCACAAGGAATCTATCCAAAACTGGAGGGTTTTTAGAGCCAGAAA
AATCACTAAAAGAAGCAAATAACTATATTTTTCTAGTGTGGTTTTTATTCCAAATAAACCCCAT
GTCCTCTGAATAGTAAATCACTTTCTTTATCTCCTGTTTCATCCTCTTAAGAATTGAGGAAATG
GAAAGATGGAAAGTCAAAAAAAAAAAAAAAAAAAAAAGAGCCCCCACTCCTCACTTTCTCCAGG
ATGACCCAGAAGAAAAAAGTAAATCAGAGCTTCCTGTTTCTTTGGTGGAAATTACCTTTAATTC
GCTAAGAAATTAGATCATGGTAAATAAACTATGACATGCAGGGAGATTT

hide sequence

RefSeq Acc Id:

XM_021102217 ⟹ XP_020957876

Type:

CODING

Position:

Pig Assembly	Chr	Position (strand)	Source
Sscrofa11.1	1	183,876,910 - 183,903,803 (+)	NCBI

Sequence:

show sequence

CTAGAGCCCGGCTCAGCTTTGGAGACCTGATGGCTGCGGTGTTTCTGGTAACGCTCTATGAGTA
CTCGCCGCTTTTCTATATTGCAGTGGTCTTTACGTGCTTCATCGTGACTACTGGCCTGGTGTTG
GGATGGCACTTGTGCAGAAAGGAGACCCGAATGTCATATATATCCTTTAATGGTCTCAGATAAT
CAGTCCCCTTGACTCTGCAGGTTTGGTTGGGATGTTCCAGTAATTCTGAGAAATTCAGAAGAGA
CCCAATTCAACACAAGAGTTTTCAAAAAGCAAATGAGACAAGTCAAGAATCCTTTTGGCTTAGA
GATCACCAATCCATCTTCAGCTTCAATTACAACTGGCATAACTTTGAGAACAGATTGCCTTGAA
GACAGCCTCCTTACATGCTACTGGGGGTGCAGTGTTCAAAGATTATATGAAGCTCTGCAGAAAC
ACTTTTATTGCTTCCGAATAAGCACTCCCCGAGCATTGGATGATGCTCTGTATAGTGAATATCT
CTATCAAGAGCAGTATTTTATTAAAAAGGACAGCAAAGAAGAAATATATTGCCAGTTACCAAGA
GAGAACAAAATTGAAGATTTTGGTATGGTGCCCAGATCTCGTTATCCACTTGTAGCCCTGTTGA
CCCTGGCCGATGAGGATGACCGAGAAATTTATGATATTATTTCTATGGTGTCAGTAATTCATAT
TCCTGATAAGACTTATAAACTCTCATGTAGAATATTATATCAATATTTACTCCTGGCTCAAGGT
CAATTTCATGATCTTAAGCAACTTTTCATGTCTGCAAATAATAATTCCACTCCCTCCAGCAATT
CCTCTCCAGAAGGAAAAAATACAGACCAAAGCTTGATGGAAAAGGCAGGACTATCTGAAAGTGA
AGTAGAGCCACTGGAGGAGAACAGCAAGGACTGTGTGGTTTGCCAGAATGGGACAGTGAACTGG
GTGCTCTTGCCGTGTAGACACACATGCTTGTGTGATGGCTGTGTTAAGTATTTTCAGCAGTGCC
CTATGTGCAGGCAGTTTGTTCAGGAATCTTTTGCACTTTGCAGTCAAAAAGAGCAAGATAAAGA
CAAACTGAAAAGTCTCTGAGGATGTTGTTACTACTGAAAAGTACACTTTCCACTGAAGATGCAA
ACATATGTTCTTAGAATTAATCATAACATGGAATCTACGGTATTAAACATCAGTGAAAATTCTG
TTTTAACTTCATATTTGTACATGGTACATGGATGATGAAAATGAGTTATTCCTTGCTGTTCACT
ATGGCAAACACTGGAATCCTATTCAGTGTCAACGCATAAAAATTCATCCAACTCTCGAGAAGAA
TGTAAACGTTTGGACTTTTATCAGCTGGTGGATTTCATGTAATGTCCATGAGAAAACTTCTGAA
AATCAATCCATCCAAAATTTGAGGAAGTAAAAGTCTTAAGATTTTTCAATGTTTTTCCTTTGAC
ATAATCTGGAGTTCAATTGGGTAAAAACTAATTTCTTCTTAAAGTACTTGTATATTCCCTAGTT
TACAAAAGAGTAGGAAAGGGCTTCTAACTTTAAATCCTTTCATATCAGTTTTTATAAATATCCA
TCTGTTTAGTTTCTAATTTTCTTATAATCATAGTCATATAAACACGTCTTAATTTTTAAATATA
GTTTCTTAAATCATAAATGCAAGATACAGATCTTGACTGTTCTCAGTGTATCATAGATTAAAAT
GATACTCATTTATAGGAAGCAGATATATAAATCATGGGTAATAAAATTTCTTGGATAATTAAAT
TTATTGTCAAAGATGATTAGATTAGCAGAATGTGACCTATCAGGAAGATCTATGAGATTTTAAT
GCCTTACCTTACATTTCCTCCTGCACAAGGAATCTATCCAAAACTGGAGGGTTTTTAGAGCCAG
AAAAATCACTAAAAGAAGCAAATAACTATATTTTTCTAGTGTGGTTTTTATTCCAAATAAACCC
CATGTCCTCTGAATAGTAAATCACTTTCTTTATCTCCTGTTTCATCCTCTTAAGAATTGAGGAA
ATGGAAAGATGGAAAGTCAAAAAAAAAAAAAAAAAAAAAAGAGCCCCCACTCCTCACTTTCTCC
AGGATGACCCAGAAGAAAAAAGTAAATCAGAGCTTCCTGTTTCTTTGGTGGAAATTACCTTTAA
TTCGCTAAGAAATTAGATCATGGTAAATAAACTATGACATGCAGGGAGATTTCCAAA

hide sequence

RefSeq Acc Id:

XR_002346942

Type:

NON-CODING

Position:

Pig Assembly	Chr	Position (strand)	Source
Sscrofa11.1	1	183,863,459 - 183,903,793 (+)	NCBI

Sequence:

show sequence

TCTCCCGCGCTGTTTCTTGAACCCTCCAGTGGACGCTATCGGATTCGGAGTGGAGGACTTCCAG
TGCCAAAATGTATCCTCAAAATTCGAGCCAGTTTTTGCTTCCTTTCAACCCTCCTCAATCTCTG
AGAGAAATTTCATGGTGACATGATTGAGTCAACGATTTCAATGCAGGGATATAGACATGGTGGC
TGGAGCTACAGCAGGCATTTTGGACCATGAGGCAACCTTAGGAATGGTGGGGACTACACATGGT
GGAACAAAATAGAAGCCTAAGTCCCTTGCAGCATGGAACACTATATCAGTTCTGTATAACCAAC
TTCTGGATTTTTACCTGAAAGAGAAATAAACTTCTATCTCAAGCTTTCGACAGTGTCTGGCAAA
TATCTGACATTCAACAAACATTTTCTGAATGAAGAAGTAAGAGCAGGGCCCTGCTGCTCAGAAT
AAAAGACTGCATTTCCCTGACTCTGTGGTAGCTGGGTGTGGCCTTGCAACTACAGGCAAGTCAA
GAAGATGTCAGTGGAAGCATTGTGAGAGACTTCCAGGGAGGCTACCCTGATGGAGTTGACTGAT
TGGAAGGCGTGGAGAGGAGCGGTGGGCATTCTGCTTCTTTCTGGTCTGCCGCAGATCTAATATG
TAGGATTACAGGATTTAGACTTTGTGGCGTGGATTTCGGACTGTGTCTCCTCTCTCTGGCATCT
TACCTGAGTCCTGAACGCAGCTGGCACCAAAAGCAATTCAGAATTTGCCGCAGAAAAACGTGGA
CCTCAAAAACGTTGTCAAAGACGCTCTCGGGGTTCAGGGAATTTGAGCCAGGGGCGGGACGAGT
CGGGGCCGCGTCCAAGCTCGCCCCGCCCCTTTGCGAAGCCAATAACTCGGGACGAGAGTGGGAG
GGGTAGGGCAAGAAGGCGACCTCGTGATTGGCACGCCGACACCCGCAGCCTAAGAGGCTACCTC
TGTATCTAGTCTACCAGAGCGCTAGGCAAGTGCAGATCTATAAAGTTTGTCCACTCCGGGGCAC
CGTAGTGCCTTTAACCCTGGCGGAGTGGGCGGGGCTGCGCTAGGCTGGGCTGGGCGGCTAGAGC
CCGGCTCAGCTTTGGAGACCTGATGGCTGCGGTGTTTCTGGTAACGCTCTATGAGTACTCGCCG
CTTTTCTATATTGCAGTGGTCTTTACGTGCTTCATCGTGACTACTGGCCTGGTGTTGGGATGGT
TTGGTTGGGATGTTCCAGTAATTCTGAGAAATTCAGAAGAGACCCAATTCAACACAAGAGTTTT
CAAAAAGCAAATGAGACAAGTCAAGAATCCTTTTGGCTTAGAGATCACCAATCCATCTTCAGCT
TCAATTACAAGTTTGGAGAGCCAGAATCAGAGTCTGTTCAGCCAGGAACAGTGACCAAAACCAT
GCCCTTTTGATCTGCTGGCATAACTTTGAGAACAGATTGCCTTGAAGACAGCCTCCTTACATGC
TACTGGGGGTGCAGTGTTCAAAGATTATATGAAGCTCTGCAGAAACACTTTTATTGCTTCCGAA
TAAGCACTCCCCGAGCATTGGATGATGCTCTGTATAGTGAATATCTCTATCAAGAGCAGTATTT
TATTAAAAAGGACAGCAAAGAAGAAATATATTGCCAGTTACCAAGAGAGAACAAAATTGAAGAT
TTTGGTATGGTGCCCAGATCTCGTTATCCACTTGTAGCCCTGTTGACCCTGGCCGATGAGGATG
ACCGAGAAATTTATGATATTATTTCTATGGTGTCAGTAATTCATATTCCTGATAAGACTTATAA
ACTCTCATGTAGAATATTATATCAATATTTACTCCTGGCTCAAGGTCAATTTCATGATCTTAAG
CAACTTTTCATGTCTGCAAATAATAATTCCACTCCCTCCAGCAATTCCTCTCCAGAAGGAAAAA
ATACAGACCAAAGCTTGATGGAAAAGGCAGGACTATCTGAAAGTGAAGTAGAGCCACTGGAGGA
GAACAGCAAGGACTGTGTGGTTTGCCAGAATGGGACAGTGAACTGGGTGCTCTTGCCGTGTAGA
CACACATGCTTGTGTGATGGCTGTGTTAAGTATTTTCAGCAGTGCCCTATGTGCAGGCAGTTTG
TTCAGGAATCTTTTGCACTTTGCAGTCAAAAAGAGCAAGATAAAGACAAACTGAAAAGTCTCTG
AGGATGTTGTTACTACTGAAAAGTACACTTTCCACTGAAGATGCAAACATATGTTCTTAGAATT
AATCATAACATGGAATCTACGGTATTAAACATCAGTGAAAATTCTGTTTTAACTTCATATTTGT
ACATGGTACATGGATGATGAAAATGAGTTATTCCTTGCTGTTCACTATGGCAAACACTGGAATC
CTATTCAGTGTCAACGCATAAAAATTCATCCAACTCTCGAGAAGAATGTAAACGTTTGGACTTT
TATCAGCTGGTGGATTTCATGTAATGTCCATGAGAAAACTTCTGAAAATCAATCCATCCAAAAT
TTGAGGAAGTAAAAGTCTTAAGATTTTTCAATGTTTTTCCTTTGACATAATCTGGAGTTCAATT
GGGTAAAAACTAATTTCTTCTTAAAGTACTTGTATATTCCCTAGTTTACAAAAGAGTAGGAAAG
GGCTTCTAACTTTAAATCCTTTCATATCAGTTTTTATAAATATCCATCTGTTTAGTTTCTAATT
TTCTTATAATCATAGTCATATAAACACGTCTTAATTTTTAAATATAGTTTCTTAAATCATAAAT
GCAAGATACAGATCTTGACTGTTCTCAGTGTATCATAGATTAAAATGATACTCATTTATAGGAA
GCAGATATATAAATCATGGGTAATAAAATTTCTTGGATAATTAAATTTATTGTCAAAGATGATT
AGATTAGCAGAATGTGACCTATCAGGAAGATCTATGAGATTTTAATGCCTTACCTTACATTTCC
TCCTGCACAAGGAATCTATCCAAAACTGGAGGGTTTTTAGAGCCAGAAAAATCACTAAAAGAAG
CAAATAACTATATTTTTCTAGTGTGGTTTTTATTCCAAATAAACCCCATGTCCTCTGAATAGTA
AATCACTTTCTTTATCTCCTGTTTCATCCTCTTAAGAATTGAGGAAATGGAAAGATGGAAAGTC
AAAAAAAAAAAAAAAAAAAAAAGAGCCCCCACTCCTCACTTTCTCCAGGATGACCCAGAAGAAA
AAAGTAAATCAGAGCTTCCTGTTTCTTTGGTGGAAATTACCTTTAATTCGCTAAGAAATTAGAT
CATGGTAAATAAACTATGACATGCAGGGA

hide sequence

Protein Sequences


Protein RefSeqs	XP_020957869	(Get FASTA)	NCBI Sequence Viewer
	XP_020957871	(Get FASTA)	NCBI Sequence Viewer
	XP_020957873	(Get FASTA)	NCBI Sequence Viewer
	XP_020957876	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSSSCP00000021693
	ENSSSCP00000021693.2
	ENSSSCP00005032584.1
	ENSSSCP00005032597.1
	ENSSSCP00005032613.1
	ENSSSCP00015026628.1
	ENSSSCP00025038825.1
	ENSSSCP00030024524.1
	ENSSSCP00035015032.1
	ENSSSCP00040035428.1
	ENSSSCP00045009387.1
	ENSSSCP00050015199.1
	ENSSSCP00055046942.1
	ENSSSCP00060023827.1
	ENSSSCP00065003783.1
	ENSSSCP00070052519.1

RefSeq Acc Id:

XP_020957873 ⟸ XM_021102214

- Peptide Label:

isoform X2

- Sequence:

show sequence

MRQVKNPFGLEITNPSSASITTGITLRTDCLEDSLLTCYWGCSVQRLYEALQKHFYCFRISTPR
ALDDALYSEYLYQEQYFIKKDSKEEIYCQLPRENKIEDFGMVPRSRYPLVALLTLADEDDREIY
DIISMVSVIHIPDKTYKLSCRILYQYLLLAQGQFHDLKQLFMSANNNSTPSSNSSPEGKNTDQS
LMEKAGLSESEVEPLEENSKDCVVCQNGTVNWVLLPCRHTCLCDGCVKYFQQCPMCRQFVQESF
ALCSQKEQDKDKLKSL

hide sequence

RefSeq Acc Id:

XP_020957871 ⟸ XM_021102212

- Peptide Label:

isoform X2

- Sequence:

show sequence

MRQVKNPFGLEITNPSSASITTGITLRTDCLEDSLLTCYWGCSVQRLYEALQKHFYCFRISTPR
ALDDALYSEYLYQEQYFIKKDSKEEIYCQLPRENKIEDFGMVPRSRYPLVALLTLADEDDREIY
DIISMVSVIHIPDKTYKLSCRILYQYLLLAQGQFHDLKQLFMSANNNSTPSSNSSPEGKNTDQS
LMEKAGLSESEVEPLEENSKDCVVCQNGTVNWVLLPCRHTCLCDGCVKYFQQCPMCRQFVQESF
ALCSQKEQDKDKLKSL

hide sequence

RefSeq Acc Id:	XP_020957869 ⟸ XM_021102210
- Peptide Label:	isoform X1
- UniProtKB:	A0A4X1WE40 (UniProtKB/TrEMBL), I3LCB8 (UniProtKB/TrEMBL), A0A8D0JSM1 (UniProtKB/TrEMBL)
- Sequence:	show sequence MAAVFLVTLYEYSPLFYIAVVFTCFIVTTGLVLGWFGWDVPVILRNSEETQFNTRVFKKQMRQV KNPFGLEITNPSSASITTGITLRTDCLEDSLLTCYWGCSVQRLYEALQKHFYCFRISTPRALDD ALYSEYLYQEQYFIKKDSKEEIYCQLPRENKIEDFGMVPRSRYPLVALLTLADEDDREIYDIIS MVSVIHIPDKTYKLSCRILYQYLLLAQGQFHDLKQLFMSANNNSTPSSNSSPEGKNTDQSLMEK AGLSESEVEPLEENSKDCVVCQNGTVNWVLLPCRHTCLCDGCVKYFQQCPMCRQFVQESFALCS QKEQDKDKLKSL hide sequence

RefSeq Acc Id:

XP_020957876 ⟸ XM_021102217

- Peptide Label:

isoform X2

- Sequence:

show sequence

MRQVKNPFGLEITNPSSASITTGITLRTDCLEDSLLTCYWGCSVQRLYEALQKHFYCFRISTPR
ALDDALYSEYLYQEQYFIKKDSKEEIYCQLPRENKIEDFGMVPRSRYPLVALLTLADEDDREIY
DIISMVSVIHIPDKTYKLSCRILYQYLLLAQGQFHDLKQLFMSANNNSTPSSNSSPEGKNTDQS
LMEKAGLSESEVEPLEENSKDCVVCQNGTVNWVLLPCRHTCLCDGCVKYFQQCPMCRQFVQESF
ALCSQKEQDKDKLKSL

hide sequence

RefSeq Acc Id:

ENSSSCP00000021693 ⟸ ENSSSCT00000027967

Protein Domains

RING-type

Additional Information

External Database Links

Database	Acc Id	Source(s)
Ensembl Genes	ENSSSCG00000021451	Ensembl, ENTREZGENE, UniProtKB/TrEMBL
	ENSSSCG00005033040	UniProtKB/TrEMBL
	ENSSSCG00015049878	UniProtKB/TrEMBL
	ENSSSCG00025064762	UniProtKB/TrEMBL
	ENSSSCG00030038605	UniProtKB/TrEMBL
	ENSSSCG00035028512	UniProtKB/TrEMBL
	ENSSSCG00040059935	UniProtKB/TrEMBL
	ENSSSCG00045008084	UniProtKB/TrEMBL
	ENSSSCG00050027184	UniProtKB/TrEMBL
	ENSSSCG00055029526	UniProtKB/TrEMBL
	ENSSSCG00060041161	UniProtKB/TrEMBL
	ENSSSCG00065006705	UniProtKB/TrEMBL
	ENSSSCG00070030596	UniProtKB/TrEMBL
Ensembl Transcript	ENSSSCT00000027967	ENTREZGENE
	ENSSSCT00000027967.3	UniProtKB/TrEMBL
	ENSSSCT00005052741.1	UniProtKB/TrEMBL
	ENSSSCT00005052775.1	UniProtKB/TrEMBL
	ENSSSCT00005052808.1	UniProtKB/TrEMBL
	ENSSSCT00015066436.1	UniProtKB/TrEMBL
	ENSSSCT00025088828.1	UniProtKB/TrEMBL
	ENSSSCT00030053728.1	UniProtKB/TrEMBL
	ENSSSCT00035037703.1	UniProtKB/TrEMBL
	ENSSSCT00040081500.1	UniProtKB/TrEMBL
	ENSSSCT00045013580.1	UniProtKB/TrEMBL
	ENSSSCT00050036568.1	UniProtKB/TrEMBL
	ENSSSCT00055058645.1	UniProtKB/TrEMBL
	ENSSSCT00060055782.1	UniProtKB/TrEMBL
	ENSSSCT00065009015.1	UniProtKB/TrEMBL
	ENSSSCT00070061592.1	UniProtKB/TrEMBL
Gene3D-CATH	3.30.40.10	UniProtKB/TrEMBL
InterPro	CGRF1	UniProtKB/TrEMBL
	Znf_RING	UniProtKB/TrEMBL
	Znf_RING/FYVE/PHD	UniProtKB/TrEMBL
NCBI Gene	CGRRF1	ENTREZGENE
PANTHER	CELL GROWTH REGULATOR WITH RING FINGER DOMAIN PROTEIN 1	UniProtKB/TrEMBL
	PTHR15379	UniProtKB/TrEMBL
Pfam	zf-C3HC4_3	UniProtKB/TrEMBL
PROSITE	ZF_RING_2	UniProtKB/TrEMBL
SMART	RING	UniProtKB/TrEMBL
Superfamily-SCOP	RING/U-box	UniProtKB/TrEMBL
UniProt	A0A4X1WE40	ENTREZGENE
	A0A8D0JSM1	ENTREZGENE, UniProtKB/TrEMBL
	I3LCB8	ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary	A0A4X1WE40	UniProtKB/TrEMBL
VGNC ID	VGNC:86617	ENTREZGENE

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