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Gene: CFC1 (cryptic, EGF-CFC family member 1) Homo sapiens

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Symbol:

CFC1

Name:

cryptic, EGF-CFC family member 1

RGD ID:

1353993

HGNC Page

HGNC:18292

Description:

Enables nodal binding activity. Involved in nodal signaling pathway. Predicted to be located in plasma membrane and side of membrane. Predicted to be active in cell surface and extracellular region. Implicated in visceral heterotaxy 2.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

CFC1B; cripto, FRL-1, cryptic family 1; cryptic; cryptic family protein 1; DTGA2; FLJ77897; heterotaxy 2 (autosomal dominant); HTX2; MGC133213

RGD Orthologs

Green Monkey

Alliance Orthologs

More Info

more info ...

More Info

Species	Gene symbol and name	Data Source	Assertion derived from	less info ...
Orthologs ¹				less info ...
Chlorocebus sabaeus (green monkey):	LOC103247122 (cryptic protein)	NCBI	Ortholog
Other homologs ²
Sus scrofa (pig):	CFC1B (cryptic, EGF-CFC family member 1B)	HGNC	Ensembl, OMA, Panther, Treefam
Alliance orthologs ³
Mus musculus (house mouse):	Cfc1 (cryptic, EGF-CFC family member 1)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Rattus norvegicus (Norway rat):	Cfc1 (cripto, FRL-1, cryptic family 1)	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|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	2	130,592,165 - 130,599,575 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	2	130,592,165 - 130,599,575 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	2	131,349,738 - 131,357,148 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	2	131,066,805 - 131,073,552 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	2	131,066,530 - 131,073,278	NCBI
Cytogenetic Map	2	q21.1	NCBI
HuRef	2	123,493,958 - 123,501,368 (-)	NCBI		HuRef
CHM1_1	2	131,353,398 - 131,360,664 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	2	131,026,073 - 131,033,483 (-)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CFC1	Human	genetic disease		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar
CFC1	Human	Neurodevelopmental Disorders		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Neurodevelopmental disorder	ClinVar	PMID:25741868
CFC1	Human	visceral heterotaxy 2		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Heterotaxy more ...	ClinVar	PMID:11799476
CFC1	Human	visceral heterotaxy 2		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Heterotaxy more ...	ClinVar	PMID:11062482
CFC1	Human	visceral heterotaxy 2		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Heterotaxy more ...	ClinVar	PMID:11062482 more ...
CFC1	Human	visceral heterotaxy 2		IAGP	(Homo sapiens) and (Homo sapiens)	8554872	ClinVar Annotator: match by term: Heterotaxy more ...	ClinVar

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CFC1	Human	dextro-looped transposition of the great arteries		EXP		11554173	CTD Direct Evidence: marker/mechanism	CTD	PMID:11799476
CFC1	Human	double outlet right ventricle		EXP		11554173	CTD Direct Evidence: marker/mechanism	CTD	PMID:11799476

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CFC1	Human	visceral heterotaxy 2		IAGP		7240710		OMIM

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CFC1	Human	2-palmitoylglycerol	increases expression	EXP		6480464	2-palmitoylglycerol results in increased expression of CFC1 mRNA	CTD	PMID:37199045
CFC1	Human	aflatoxin B1	increases methylation	EXP		6480464	Aflatoxin B1 results in increased methylation of CFC1 gene	CTD	PMID:27153756
CFC1	Human	arsane	affects expression	EXP		6480464	Arsenic affects the expression of CFC1 protein	CTD	PMID:24675094
CFC1	Human	arsenic atom	affects expression	EXP		6480464	Arsenic affects the expression of CFC1 protein	CTD	PMID:24675094
CFC1	Human	CGP 52608	multiple interactions	EXP		6480464	CGP 52608 promotes the reaction [RORA protein binds to CFC1 gene]	CTD	PMID:28238834
CFC1	Human	N-methyl-4-phenylpyridinium	increases expression	EXP		6480464	1-Methyl-4-phenylpyridinium results in increased expression of CFC1 mRNA	CTD	PMID:24810058

Biological Process

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CFC1	Human	anterior/posterior pattern specification	involved_in	IBA	MGI:109448 more ...	150520179		GO_Central	GO_REF:0000033
CFC1	Human	blood vessel development	involved_in	IBA	MGI:109448 more ...	150520179		GO_Central	GO_REF:0000033
CFC1	Human	determination of left/right symmetry	involved_in	NAS		150520179	PMID:11062482	UniProt	PMID:11062482
CFC1	Human	determination of left/right symmetry	involved_in	IBA	MGI:109448 more ...	150520179		GO_Central	GO_REF:0000033
CFC1	Human	gastrulation	involved_in	IEA	UniProtKB-KW:KW-0306	150520179		UniProt	GO_REF:0000043
CFC1	Human	heart development	involved_in	IBA	MGI:109448 more ...	150520179		GO_Central	GO_REF:0000033
CFC1	Human	nodal signaling pathway	involved_in	IMP		150520179	PMID:12052855	UniProt	PMID:12052855
CFC1	Human	nodal signaling pathway	involved_in	IBA	MGI:109448 more ...	150520179		GO_Central	GO_REF:0000033
CFC1	Human	signal transduction	involved_in	IEA	ARBA:ARBA00029050	150520179		UniProt	GO_REF:0000117

Cellular Component

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CFC1	Human	cell surface	is_active_in	IBA	MGI:98658 more ...	150520179		GO_Central	GO_REF:0000033
CFC1	Human	extracellular region	located_in	IEA	UniProtKB-SubCell:SL-0243	150520179		UniProt	GO_REF:0000044
CFC1	Human	extracellular region	is_active_in	IBA	FB:FBgn0003390 more ...	150520179		GO_Central	GO_REF:0000033
CFC1	Human	extracellular region	located_in	IEA	UniProtKB-KW:KW-0964	150520179		UniProt	GO_REF:0000043
CFC1	Human	membrane	located_in	IEA	UniProtKB-KW:KW-0472	150520179		UniProt	GO_REF:0000043
CFC1	Human	plasma membrane	located_in	IEA	UniProtKB-KW:KW-1003	150520179		UniProt	GO_REF:0000043
CFC1	Human	plasma membrane	located_in	IEA	UniProtKB-SubCell:SL-0039	150520179		UniProt	GO_REF:0000044
CFC1	Human	side of membrane	located_in	IEA	UniProtKB-KW:KW-0336	150520179		UniProt	GO_REF:0000043

Molecular Function

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CFC1	Human	activin receptor binding	enables	IBA	MGI:109448 more ...	150520179		GO_Central	GO_REF:0000033
CFC1	Human	nodal binding	enables	IPI	UniProtKB:P43021	150520179	PMID:12052855	UniProt	PMID:12052855
CFC1	Human	nodal binding	enables	IBA	MGI:98658 more ...	150520179		GO_Central	GO_REF:0000033

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CFC1	Human	Abdominal situs inversus		IAGP		8699517		HPO	MIM:605376
CFC1	Human	Agenesis of corpus callosum		IAGP		8699517		HPO	MIM:605376
CFC1	Human	Asplenia		IAGP		8699517		HPO	MIM:605376
CFC1	Human	Atrioventricular canal defect		IAGP		8699517		HPO	MIM:605376
CFC1	Human	Autosomal dominant inheritance		IAGP		8699517		HPO	MIM:605376
CFC1	Human	Bilateral superior vena cava		IAGP		8699517		HPO	MIM:605376
CFC1	Human	Congenital onset		IAGP		8699517		HPO	MIM:605376
CFC1	Human	Dextrocardia		IAGP		8699517		HPO	MIM:605376
CFC1	Human	Double outlet right ventricle		IAGP		8699517		HPO	MIM:605376
CFC1	Human	Intestinal malrotation		IAGP		8699517		HPO	MIM:605376
CFC1	Human	Left atrial isomerism		IAGP		8699517		HPO	MIM:605376
CFC1	Human	Mesocardia		IAGP		8699517		HPO	MIM:605376
CFC1	Human	Microcephaly		IAGP		8699517		HPO	MIM:605376
CFC1	Human	Polysplenia		IAGP		8699517		HPO	MIM:605376
CFC1	Human	Situs inversus totalis		IAGP		8699517		HPO	MIM:605376
CFC1	Human	Transposition of the great arteries		IAGP		8699517		HPO	MIM:605376
CFC1	Human	Typified by incomplete penetrance		IAGP		8699517		HPO	MIM:605376

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CFC1	Human	Double outlet right ventricle		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Double outlet right ventricle	ClinVar

#	Reference Title	Reference Citation
1.	GOAs Human GO annotations	GOA_HUMAN data from the GO Consortium
2.	OMIM Disease Annotation Pipeline	OMIM Disease Annotation Pipeline
3.	ClinVar Automated Import and Annotation Pipeline	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions
5.	RGD HPO Phenotype Annotation Pipeline	RGD automated import pipeline for human HPO-to-gene-to-disease annotations

PMID:7747776	PMID:10858660	PMID:11062482	PMID:11799476	PMID:12477932	PMID:15096953	PMID:15252450	PMID:15489334	PMID:15815621	PMID:17072672	PMID:17445335	PMID:18162845
PMID:18456715	PMID:18930707	PMID:19661783	PMID:19853937	PMID:20634891	PMID:21640172	PMID:21873635	PMID:25423076	PMID:26186194	PMID:26476731	PMID:27793090	PMID:28620148
PMID:33961781

CFC1
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	2	130,592,165 - 130,599,575 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	2	130,592,165 - 130,599,575 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	2	131,349,738 - 131,357,148 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	2	131,066,805 - 131,073,552 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	2	131,066,530 - 131,073,278	NCBI
Cytogenetic Map	2	q21.1	NCBI
HuRef	2	123,493,958 - 123,501,368 (-)	NCBI		HuRef
CHM1_1	2	131,353,398 - 131,360,664 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	2	131,026,073 - 131,033,483 (-)	NCBI		T2T-CHM13v2.0

LOC103247122
(Chlorocebus sabaeus - green monkey)

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Vero_WHO_p1.0	NW_023666037	331,197 - 346,120 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Variants in CFC1
32 total Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
NM_032545.4(CFC1):c.334C>T (p.Arg112Cys)	single nucleotide variant	Heterotaxy, visceral, 2, autosomal [RCV000005496]	Chr2:130597896 [GRCh38] Chr2:131355469 [GRCh37] Chr2:2q21.1	pathogenic
NM_032545.4(CFC1):c.522del (p.Ala175fs)	deletion	Heterotaxy, visceral, 2, autosomal [RCV000005497]\|not provided [RCV001570086]\|not specified [RCV002247251]	Chr2:130593027 [GRCh38] Chr2:131350600 [GRCh37] Chr2:2q21.1	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance
CFC1, 1-BP DEL, 174G	deletion	Double outlet right ventricle [RCV000005498]\|Heterotaxy, visceral, 2, autosomal [RCV000005499]	Chr2:2q21.1	pathogenic
NM_032545.4(CFC1):c.361_362+18dup	duplication	Heterotaxy, visceral, 2, autosomal [RCV000005500]	Chr2:130597849..130597850 [GRCh38] Chr2:131355422..131355423 [GRCh37] Chr2:2q21.1	pathogenic
GRCh38/hg38 2q14.1-21.3(chr2:118086324-134964738)x1	copy number loss	See cases [RCV000054058]	Chr2:118086324..134964738 [GRCh38] Chr2:118843900..135722308 [GRCh37] Chr2:118560370..135438778 [NCBI36] Chr2:2q14.1-21.3	pathogenic
NM_032545.4(CFC1):c.61A>C (p.Asn21His)	single nucleotide variant	not provided [RCV000420471]\|not specified [RCV000124251]	Chr2:130598922 [GRCh38] Chr2:131356495 [GRCh37] Chr2:2q21.1	benign
NM_032545.4(CFC1):c.63T>C (p.Asn21=)	single nucleotide variant	not provided [RCV004708000]\|not specified [RCV000124252]	Chr2:130598920 [GRCh38] Chr2:131356493 [GRCh37] Chr2:2q21.1	benign
NM_032545.4(CFC1):c.140G>A (p.Arg47Gln)	single nucleotide variant	not provided [RCV001723690]\|not specified [RCV000124253]	Chr2:130598749 [GRCh38] Chr2:131356322 [GRCh37] Chr2:2q21.1	benign\|likely benign
NM_032545.4(CFC1):c.225C>A (p.Pro75=)	single nucleotide variant	not specified [RCV000124254]	Chr2:130598664 [GRCh38] Chr2:131356237 [GRCh37] Chr2:2q21.1	benign
NM_032545.4(CFC1):c.433G>A (p.Ala145Thr)	single nucleotide variant	Heterotaxy, visceral, 2, autosomal [RCV000986817]\|not specified [RCV000124255]	Chr2:130597533 [GRCh38] Chr2:131355106 [GRCh37] Chr2:2q21.1	benign
NM_032545.4(CFC1):c.588C>A (p.Pro196=)	single nucleotide variant	not provided [RCV001701673]\|not specified [RCV000124256]	Chr2:130592961 [GRCh38] Chr2:131350534 [GRCh37] Chr2:2q21.1	benign\|likely benign
NM_032545.4(CFC1):c.600G>T (p.Arg200=)	single nucleotide variant	not specified [RCV000124257]	Chr2:130592949 [GRCh38] Chr2:131350522 [GRCh37] Chr2:2q21.1	benign
NM_032545.4(CFC1):c.606G>C (p.Leu202=)	single nucleotide variant	not provided [RCV001701674]\|not specified [RCV000124258]	Chr2:130592943 [GRCh38] Chr2:131350516 [GRCh37] Chr2:2q21.1	benign\|likely benign
NM_032545.4(CFC1):c.615C>G (p.Ser205=)	single nucleotide variant	not specified [RCV000124259]	Chr2:130592934 [GRCh38] Chr2:131350507 [GRCh37] Chr2:2q21.1	benign
GRCh38/hg38 2q14.3-22.1(chr2:123445762-140592538)x1	copy number loss	See cases [RCV000136714]	Chr2:123445762..140592538 [GRCh38] Chr2:124203338..141350107 [GRCh37] Chr2:123919808..141066577 [NCBI36] Chr2:2q14.3-22.1	pathogenic
GRCh38/hg38 2q21.1(chr2:130594216-131310557)x3	copy number gain	See cases [RCV000137619]	Chr2:130594216..131310557 [GRCh38] Chr2:131351789..132068130 [GRCh37] Chr2:131068259..131784600 [NCBI36] Chr2:2q21.1	uncertain significance
GRCh38/hg38 2q21.1(chr2:130527409-130594290)x1	copy number loss	See cases [RCV000142913]	Chr2:130527409..130594290 [GRCh38] Chr2:131284982..131351863 [GRCh37] Chr2:131001452..131068333 [NCBI36] Chr2:2q21.1	likely benign
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3	copy number gain	not provided [RCV000752802]	Chr2:14238..243048760 [GRCh37] Chr2:2p25.3-q37.3	pathogenic
GRCh37/hg19 2q14.3-22.1(chr2:128490257-138210164)x1	copy number loss	See cases [RCV000445892]	Chr2:128490257..138210164 [GRCh37] Chr2:2q14.3-22.1	pathogenic
NM_032545.4(CFC1):c.204G>T (p.Trp68Cys)	single nucleotide variant	not provided [RCV000484824]	Chr2:130598685 [GRCh38] Chr2:131356258 [GRCh37] Chr2:2q21.1	uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	copy number gain	See cases [RCV000512056]	Chr2:12771..242783384 [GRCh37] Chr2:2p25.3-q37.3	pathogenic
GRCh37/hg19 2q21.1-21.2(chr2:130920847-134220436)x3	copy number gain	See cases [RCV000511730]	Chr2:130920847..134220436 [GRCh37] Chr2:2q21.1-21.2	uncertain significance
GRCh37/hg19 2q21.1(chr2:130685932-131478005)x3	copy number gain	See cases [RCV000511540]	Chr2:130685932..131478005 [GRCh37] Chr2:2q21.1	uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	copy number gain	See cases [RCV000511212]	Chr2:12771..242783384 [GRCh37] Chr2:2p25.3-q37.3	pathogenic
GRCh37/hg19 2q12.1-24.3(chr2:104172062-168223828)x1	copy number loss	Poly (ADP-Ribose) polymerase inhibitor response [RCV000626436]	Chr2:104172062..168223828 [GRCh37] Chr2:2q12.1-24.3	drug response
GRCh37/hg19 2q14.2-22.1(chr2:120571363-141627287)x1	copy number loss	See cases [RCV000512348]	Chr2:120571363..141627287 [GRCh37] Chr2:2q14.2-22.1	pathogenic
GRCh37/hg19 2q21.1(chr2:130874475-131765997)x1	copy number loss	not provided [RCV000682106]	Chr2:130874475..131765997 [GRCh37] Chr2:2q21.1	likely pathogenic
Single allele	deletion	not provided [RCV000714264]	Chr2:40608411..146900718 [GRCh37] Chr2:2p22.1-q22.3	likely pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3	copy number gain	not provided [RCV000752804]	Chr2:15672..243101834 [GRCh37] Chr2:2p25.3-q37.3	pathogenic
Single allele	deletion	Neurodevelopmental disorder [RCV000787418]	Chr2:131198454..131632188 [GRCh37] Chr2:2q21.1	uncertain significance
GRCh37/hg19 2q21.1-21.2(chr2:130916858-134213436)x3	copy number gain	not provided [RCV000846479]	Chr2:130916858..134213436 [GRCh37] Chr2:2q21.1-21.2	uncertain significance
NM_032545.4(CFC1):c.484T>C (p.Phe162Leu)	single nucleotide variant	Heterotaxy, visceral, 2, autosomal [RCV000986816]	Chr2:130593065 [GRCh38] Chr2:131350638 [GRCh37] Chr2:2q21.1	benign
NM_032545.4(CFC1):c.232C>T (p.Arg78Trp)	single nucleotide variant	not provided [RCV001593758]	Chr2:130598657 [GRCh38] Chr2:131356230 [GRCh37] Chr2:2q21.1	likely benign
GRCh37/hg19 2q14.3-21.2(chr2:122952356-133826358)x1	copy number loss	See cases [RCV001194541]	Chr2:122952356..133826358 [GRCh37] Chr2:2q14.3-21.2	likely pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	copy number gain	Mosaic trisomy 2 [RCV002280628]	Chr2:1..243199373 [GRCh37] Chr2:2p25.3-q37.3	pathogenic
NM_032545.4(CFC1):c.36G>T (p.Thr12=)	single nucleotide variant	not provided [RCV001756281]	Chr2:130598947 [GRCh38] Chr2:131356520 [GRCh37] Chr2:2q21.1	uncertain significance
NM_032545.4(CFC1):c.523G>A (p.Ala175Thr)	single nucleotide variant	not provided [RCV004809359]	Chr2:130593026 [GRCh38] Chr2:131350599 [GRCh37] Chr2:2q21.1	benign
GRCh37/hg19 2q14.3-22.2(chr2:122699106-143799629)x1	copy number loss	not provided [RCV001832883]	Chr2:122699106..143799629 [GRCh37] Chr2:2q14.3-22.2	pathogenic
GRCh37/hg19 2q13-22.3(chr2:111484468-146333604)x3	copy number gain	not provided [RCV001832896]	Chr2:111484468..146333604 [GRCh37] Chr2:2q13-22.3	pathogenic
GRCh37/hg19 2q13-22.3(chr2:112475655-145691999)x3	copy number gain	2q13q22.3 microduplication syndrome [RCV002226436]	Chr2:112475655..145691999 [GRCh37] Chr2:2q13-22.3	pathogenic
NM_032545.4(CFC1):c.331G>A (p.Gly111Ser)	single nucleotide variant	not provided [RCV004588626]	Chr2:130597899 [GRCh38] Chr2:131355472 [GRCh37] Chr2:2q21.1	uncertain significance
NM_032545.4(CFC1):c.260_267del (p.Arg87fs)	deletion	not provided [RCV002511258]	Chr2:130597963..130597970 [GRCh38] Chr2:131355536..131355543 [GRCh37] Chr2:2q21.1	uncertain significance
NM_032545.4(CFC1):c.92A>G (p.His31Arg)	single nucleotide variant	Inborn genetic diseases [RCV003000462]	Chr2:130598797 [GRCh38] Chr2:131356370 [GRCh37] Chr2:2q21.1	uncertain significance
NM_032545.4(CFC1):c.211G>C (p.Glu71Gln)	single nucleotide variant	Inborn genetic diseases [RCV002888990]	Chr2:130598678 [GRCh38] Chr2:131356251 [GRCh37] Chr2:2q21.1	likely benign
NM_032545.4(CFC1):c.584C>T (p.Ala195Val)	single nucleotide variant	Inborn genetic diseases [RCV002768412]	Chr2:130592965 [GRCh38] Chr2:131350538 [GRCh37] Chr2:2q21.1	uncertain significance
NM_032545.4(CFC1):c.214G>A (p.Glu72Lys)	single nucleotide variant	Inborn genetic diseases [RCV002835883]	Chr2:130598675 [GRCh38] Chr2:131356248 [GRCh37] Chr2:2q21.1	uncertain significance
NM_032545.4(CFC1):c.209C>T (p.Pro70Leu)	single nucleotide variant	Inborn genetic diseases [RCV002965100]	Chr2:130598680 [GRCh38] Chr2:131356253 [GRCh37] Chr2:2q21.1	uncertain significance
NM_032545.4(CFC1):c.196_207dup (p.Gly69_Pro70insGluGlyTrpGly)	duplication	not specified [RCV003155676]	Chr2:130598681..130598682 [GRCh38] Chr2:131356254..131356255 [GRCh37] Chr2:2q21.1	uncertain significance
NM_032545.4(CFC1):c.175G>A (p.Gly59Arg)	single nucleotide variant	Inborn genetic diseases [RCV003255489]	Chr2:130598714 [GRCh38] Chr2:131356287 [GRCh37] Chr2:2q21.1	likely benign
NM_032545.4(CFC1):c.81_82del (p.Lys30fs)	deletion	not provided [RCV003328828]	Chr2:130598807..130598808 [GRCh38] Chr2:131356380..131356381 [GRCh37] Chr2:2q21.1	uncertain significance
GRCh37/hg19 2q21.1(chr2:130817326-132099295)x1	copy number loss	not provided [RCV003484893]	Chr2:130817326..132099295 [GRCh37] Chr2:2q21.1	uncertain significance
GRCh37/hg19 2q12.2-21.2(chr2:106755586-134302739)x1	copy number loss	not specified [RCV003986380]	Chr2:106755586..134302739 [GRCh37] Chr2:2q12.2-21.2	pathogenic
NM_032545.4(CFC1):c.235G>A (p.Ala79Thr)	single nucleotide variant	Inborn genetic diseases [RCV004436582]	Chr2:130598654 [GRCh38] Chr2:131356227 [GRCh37] Chr2:2q21.1	uncertain significance
NM_032545.4(CFC1):c.596C>T (p.Pro199Leu)	single nucleotide variant	not provided [RCV004775889]	Chr2:130592953 [GRCh38] Chr2:131350526 [GRCh37] Chr2:2q21.1	uncertain significance
NM_032545.4(CFC1):c.20T>G (p.Val7Gly)	single nucleotide variant	not provided [RCV004781021]	Chr2:130599268 [GRCh38] Chr2:131356841 [GRCh37] Chr2:2q21.1	uncertain significance
NM_032545.4(CFC1):c.509C>G (p.Pro170Arg)	single nucleotide variant	not provided [RCV004763207]		uncertain significance
NM_032545.4(CFC1):c.97G>A (p.Gly33Ser)	single nucleotide variant	Inborn genetic diseases [RCV004967819]	Chr2:130598792 [GRCh38] Chr2:131356365 [GRCh37] Chr2:2q21.1	uncertain significance
NM_032545.4(CFC1):c.82A>G (p.Arg28Gly)	single nucleotide variant	Inborn genetic diseases [RCV004976587]	Chr2:130598807 [GRCh38] Chr2:131356380 [GRCh37] Chr2:2q21.1	uncertain significance
NM_032545.4(CFC1):c.183_184insGG (p.Thr62fs)	insertion	Heterotaxy, visceral, 2, autosomal [RCV005229553]	Chr2:130598705..130598706 [GRCh38] Chr2:131356278..131356279 [GRCh37] Chr2:2q21.1	not provided
NM_032545.4(CFC1):c.178_179insCGCCG (p.Glu60fs)	insertion	Heterotaxy, visceral, 2, autosomal [RCV005229555]	Chr2:130598710..130598711 [GRCh38] Chr2:131356283..131356284 [GRCh37] Chr2:2q21.1	not provided
NM_032545.4(CFC1):c.181_182insGC (p.Val61fs)	insertion	Heterotaxy, visceral, 2, autosomal [RCV005229554]	Chr2:130598707..130598708 [GRCh38] Chr2:131356280..131356281 [GRCh37] Chr2:2q21.1	not provided

Predicted Target Of

	Summary Value
Count of predictions:	103
Count of miRNA genes:	103
Interacting mature miRNAs:	103
Transcripts:	ENST00000259216
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.

G65628

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	2	131,355,657 - 131,355,887	UniSTS	GRCh37
GRCh37	2	131,280,031 - 131,280,261	UniSTS	GRCh37
Build 36	2	130,996,501 - 130,996,731	RGD	NCBI36
Cytogenetic Map	2	q21.1	UniSTS
HuRef	2	123,499,877 - 123,500,107	UniSTS

Click on a value in the shaded box below the category label to view a detailed expression data table for that system.

adipose tissue	alimentary part of gastrointestinal system	appendage	circulatory system	ectoderm	endocrine system	endoderm	exocrine system	hemolymphoid system	hepatobiliary system	integumental system	mesenchyme	mesoderm	musculoskeletal system	nervous system	renal system	reproductive system	respiratory system	sensory system
437	633	276	535	3301	567	603	51	232	36	305	1483	1671	1	2975	283	998	322	15


RefSeq Transcripts	NG_008148	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001270420	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001270421	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_032545	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011511486	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054343017	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AC140481	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF312769	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF312925	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK290094	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK315326	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC069508	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC074825	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC074826	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC110080	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC146897	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BG654700	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BI793242	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BM310214	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BM509218	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CA777249	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CA941621	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CA948246	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068276	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DQ786275	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	JA283766	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000259216 ⟹ ENSP00000259216

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	2	130,592,165 - 130,599,575 (-)	Ensembl

Ensembl Acc Id:

ENST00000615342 ⟹ ENSP00000480526

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	2	130,592,168 - 130,599,575 (-)	Ensembl

Ensembl Acc Id:

ENST00000621673 ⟹ ENSP00000480843

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	2	130,592,168 - 130,599,575 (-)	Ensembl

RefSeq Acc Id:

NM_001270420 ⟹ NP_001257349

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	2	130,592,165 - 130,599,575 (-)	NCBI
GRCh37	2	131,349,738 - 131,357,148 (-)	NCBI
HuRef	2	123,493,958 - 123,501,368 (-)	NCBI
CHM1_1	2	131,353,398 - 131,360,664 (-)	NCBI
T2T-CHM13v2.0	2	131,026,073 - 131,033,483 (-)	NCBI

Sequence:

show sequence

AGTCCCCACCCCCCAGCCAGGTCTCATAGAGGGAATTGTTCTTCAGGCTCGGAGGGGCCTGCCTGTCACTGCGCCCCCGACCCTAGCTCAGGGACTGCAGAACTCAAGATACCATCCCGTTTCTCCTG
GCTGAGGAAGGGAAGGGAACATCCACATCTTCTGTACTCGTCCATTCTGTGTCCCCGGGGCCTGGAGTAAAGACACCTTCAAATGCAGAGACTCTTCAGATTCAGCTTTCCTGGAAACTGATCTTCAA
TGCACTAAGAGAAGGAGACTCTCAAACCAAAAATGACCTGGAGGCACCATGTCAGGCTTCTGTTTACGGTCAGTTTGGCATTACAGATCATCAATTTGGGAAACAGCTATCAAAGAGAGAAACATAAC
GGCGGTAGAGAGGAAGTCACCAAGGTTGCCACTCAGAAGCACCGACAGTCACCGCTCAACTGGACCTCCAGTCATTTCGGAGAGGTGACTGGGAGCGCCGAGGGCTGGGGGCCGGAGGAGCCGCTCCC
CTACTCCCGGGCTTTCGGAGAGGTGAATGCGGCGCCCTGGAGCACGGAGCCTGGACCCTCCGCGCCTGCCACCTCTGCAGGTGCATCTTCGGGGCCCTGCACTGCCTCCCCCTCCAGACGCCTGACCG
CTGTGACCCGAAAGACTTCCTGGCCTCCCACGCTCACGGGCCGAGCGCCGGGGGCGCGCCCAGCCTGCTACTCTTGCTGCCCTGCGCACTCCTGCACCGCCTCCTGCGCCCGGATGCGCCCGCGCACC
CTCGGTCCCTGGTCCCTTCCGTCCTCCAGCGGGAGCGGCGCCCCTGCGGAAGGCCGGGACTTGGGCATCGCCTTTAATTTTCTATGTTGTAAATAATAGATGTGTTTAGTTTACCGTAAGCTGAAGCA
CTGGGTGAATATTTTTATTGGGTAATAAATATTTTCATGAAAGCGCCTTTGGCTCCAGATCCTTGGGAGAGGGACACGTGTGTCCCCAGCACCACTGTGACCGGTAGGTAGAGACAGCAGAACAACAG
CGAGAAGGAGCCAAAGCTGGAGCCAGAAAGCCTGGCACCGCCACCTTCCCCTGACAGTTAGCACCTTCCTTTCACAACATCTCCCTTAAGGGGGAAGCGTCTGCTGTGGAACCCACCGCAAGGCAACG
CAGGCAGAGTTCAGCCTGAAGAGCGCCAGGCCAGCCTCCTCTGTCTTCCGAGCACCGCTTCTCAGGTCGCTTCCCAATCTGAGGAGGCTGTCGTGTCCACAACCAGTCCAGGGGGATGTGCGCCACTA
GCTGAGGACGCCAGGCCCGGCGACACCACAAAGGCTTGGCCATGCGGAATGTGCCCTCAAGAGCACACACTTCGGGTAGAGGGCACTTGCATTGAGCTCTTCAGCTTTTTAAATCCACTGTAGTTCAT
GAGCCTGTGTGACATAATTACTTTTACATTTTATATTGTCAATTAGTTTATTGGCATTTTCAATCTTTTCAACTATTGGCTATGAAAATATGAATTTAACGTAACATTCAAATGAGTATTAAAGAAAA
ATAAAGTAGAACTTCATTAGA

hide sequence

RefSeq Acc Id:

NM_001270421 ⟹ NP_001257350

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	2	130,592,165 - 130,599,575 (-)	NCBI
GRCh37	2	131,349,738 - 131,357,148 (-)	NCBI
HuRef	2	123,493,958 - 123,501,368 (-)	NCBI
CHM1_1	2	131,353,398 - 131,360,664 (-)	NCBI
T2T-CHM13v2.0	2	131,026,073 - 131,033,483 (-)	NCBI

Sequence:

show sequence

AGTCCCCACCCCCCAGCCAGGTCTCATAGAGGGAATTGTTCTTCAGGCTCGGAGGGGCCTGCCT
GTCACTGCGCCCCCGACCCTAGCTCAGGGACTGCAGAACTCAAGATACCATCCCGTTTCTCCTGGCTGAGGAAGGGAAGGGAACATCCACATCTTCTGTACTCGTCCATTCTGTGTCCCCGGGGCCTG
GAGTAAAGACACCTTCAAATGCAGAGACTCTTCAGATTCAGCTTTCCTGGAAACTGATCTTCAATGCACTAAGAGAAGGAGACTCTCAAACCAAAAATGACCTGGAGGCACCATGTCAGGCTTCTGTT
TACGGTCAGTTTGGCATTACAGATCATCAATTTGGGAAACAGCTATCAAAGAGAGAAACATAACGGCGGTAGAGAGGAAGTCACCAAGGTTGCCACTCAGAAGCACCGACAGTCACCGCTCAACTGGA
CCTCCAGTCATTTCGGAGAGGTGACTGGGAGCGCCGAGGGCTGGGGGCCGGAGGAGCCGCTCCCCTACTCCCGGGCTTTCGGAGAGGACCCGAAAGACTTCCTGGCCTCCCACGCTCACGGGCCGAGC
GCCGGGGGCGCGCCCAGCCTGCTACTCTTGCTGCCCTGCGCACTCCTGCACCGCCTCCTGCGCCCGGATGCGCCCGCGCACCCTCGGTCCCTGGTCCCTTCCGTCCTCCAGCGGGAGCGGCGCCCCTG
CGGAAGGCCGGGACTTGGGCATCGCCTTTAATTTTCTATGTTGTAAATAATAGATGTGTTTAGTTTACCGTAAGCTGAAGCACTGGGTGAATATTTTTATTGGGTAATAAATATTTTCATGAAAGCGC
CTTTGGCTCCAGATCCTTGGGAGAGGGACACGTGTGTCCCCAGCACCACTGTGACCGGTAGGTAGAGACAGCAGAACAACAGCGAGAAGGAGCCAAAGCTGGAGCCAGAAAGCCTGGCACCGCCACCT
TCCCCTGACAGTTAGCACCTTCCTTTCACAACATCTCCCTTAAGGGGGAAGCGTCTGCTGTGGAACCCACCGCAAGGCAACGCAGGCAGAGTTCAGCCTGAAGAGCGCCAGGCCAGCCTCCTCTGTCT
TCCGAGCACCGCTTCTCAGGTCGCTTCCCAATCTGAGGAGGCTGTCGTGTCCACAACCAGTCCAGGGGGATGTGCGCCACTAGCTGAGGACGCCAGGCCCGGCGACACCACAAAGGCTTGGCCATGCG
GAATGTGCCCTCAAGAGCACACACTTCGGGTAGAGGGCACTTGCATTGAGCTCTTCAGCTTTTTAAATCCACTGTAGTTCATGAGCCTGTGTGACATAATTACTTTTACATTTTATATTGTCAATTAG
TTTATTGGCATTTTCAATCTTTTCAACTATTGGCTATGAAAATATGAATTTAACGTAACATTCAAATGAGTATTAAAGAAAAATAAAGTAGAACTTCATTAGA

hide sequence

RefSeq Acc Id:

NM_032545 ⟹ NP_115934

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	2	130,592,165 - 130,599,575 (-)	NCBI
GRCh37	2	131,349,738 - 131,357,148 (-)	NCBI
Build 36	2	131,066,805 - 131,073,552 (-)	NCBI Archive
HuRef	2	123,493,958 - 123,501,368 (-)	NCBI
CHM1_1	2	131,353,398 - 131,360,664 (-)	NCBI
T2T-CHM13v2.0	2	131,026,073 - 131,033,483 (-)	NCBI

Sequence:

show sequence

AGTCCCCACCCCCCAGCCAGGTCTCATAGAGGGAATTGTTCTTCAGGCTCGGAGGGGCCTGCCTGTCACTGCGCCCCCGACCCTAGCTCAGGGACTGCAGAACTCAAGATACCATCCCGTTTCTCCTG
GCTGAGGAAGGGAAGGGAACATCCACATCTTCTGTACTCGTCCATTCTGTGTCCCCGGGGCCTGGAGTAAAGACACCTTCAAATGCAGAGACTCTTCAGATTCAGCTTTCCTGGAAACTGATCTTCAA
TGCACTAAGAGAAGGAGACTCTCAAACCAAAAATGACCTGGAGGCACCATGTCAGGCTTCTGTTTACGGTCAGTTTGGCATTACAGATCATCAATTTGGGAAACAGCTATCAAAGAGAGAAACATAAC
GGCGGTAGAGAGGAAGTCACCAAGGTTGCCACTCAGAAGCACCGACAGTCACCGCTCAACTGGACCTCCAGTCATTTCGGAGAGGTGACTGGGAGCGCCGAGGGCTGGGGGCCGGAGGAGCCGCTCCC
CTACTCCCGGGCTTTCGGAGAGGGTGCGTCCGCGCGGCCGCGCTGCTGCAGGAACGGCGGTACCTGCGTGCTGGGCAGCTTCTGCGTGTGCCCGGCCCACTTCACCGGCCGCTACTGCGAGCATGACC
AGAGGCGCAGTGAATGCGGCGCCCTGGAGCACGGAGCCTGGACCCTCCGCGCCTGCCACCTCTGCAGGTGCATCTTCGGGGCCCTGCACTGCCTCCCCCTCCAGACGCCTGACCGCTGTGACCCGAAA
GACTTCCTGGCCTCCCACGCTCACGGGCCGAGCGCCGGGGGCGCGCCCAGCCTGCTACTCTTGCTGCCCTGCGCACTCCTGCACCGCCTCCTGCGCCCGGATGCGCCCGCGCACCCTCGGTCCCTGGT
CCCTTCCGTCCTCCAGCGGGAGCGGCGCCCCTGCGGAAGGCCGGGACTTGGGCATCGCCTTTAATTTTCTATGTTGTAAATAATAGATGTGTTTAGTTTACCGTAAGCTGAAGCACTGGGTGAATATT
TTTATTGGGTAATAAATATTTTCATGAAAGCGCCTTTGGCTCCAGATCCTTGGGAGAGGGACACGTGTGTCCCCAGCACCACTGTGACCGGTAGGTAGAGACAGCAGAACAACAGCGAGAAGGAGCCA
AAGCTGGAGCCAGAAAGCCTGGCACCGCCACCTTCCCCTGACAGTTAGCACCTTCCTTTCACAACATCTCCCTTAAGGGGGAAGCGTCTGCTGTGGAACCCACCGCAAGGCAACGCAGGCAGAGTTCA
GCCTGAAGAGCGCCAGGCCAGCCTCCTCTGTCTTCCGAGCACCGCTTCTCAGGTCGCTTCCCAATCTGAGGAGGCTGTCGTGTCCACAACCAGTCCAGGGGGATGTGCGCCACTAGCTGAGGACGCCA
GGCCCGGCGACACCACAAAGGCTTGGCCATGCGGAATGTGCCCTCAAGAGCACACACTTCGGGTAGAGGGCACTTGCATTGAGCTCTTCAGCTTTTTAAATCCACTGTAGTTCATGAGCCTGTGTGAC
ATAATTACTTTTACATTTTATATTGTCAATTAGTTTATTGGCATTTTCAATCTTTTCAACTATTGGCTATGAAAATATGAATTTAACGTAACATTCAAATGAGTATTAAAGAAAAATAAAGTAGAACT
TCATTAGA

hide sequence

RefSeq Acc Id:

XM_011511486 ⟹ XP_011509788

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	2	130,597,998 - 130,599,575 (-)	NCBI

Sequence:

show sequence

CCACCCCCCAGCCAGGTCTCATAGAGGGAATTGTTCTTCAGGCTCGGAGGGGCCTGCCTGTCAC
TGCGCCCCCGACCCTAGCTCAGGGACTGCAGAACTCAAGATACCATCCCGTTTCTCCTGGCTGAGGAAGGGAAGGGAACATCCACATCTTCTGTACTCGTCCATTCTGTGTCCCCGGGGCCTGGAGTA
AAGACACCTTCAAATGCAGAGACTCTTCAGATTCAGCTTTCCTGGAAACTGATCTTCAATGCACTAAGAGAAGGAGACTCTCAAACCAAAAATGACCTGGAGGCACCATGTCAGGCTTCTGTTTACGG
TCAGTTTGGCATTACAGATCATCAATTTGGGAAACAGCTATCAAAGAGAGAAACATAACGGCGGTAGAGAGGAAGTCACCAAGGTTGCCACTCAGAAGCACCGACAGTCACCGCTCAACTGGACCTCC
AGTCATTTCGGAGAGGTGACTGGGAGCGCCGAGGGCTGGGGGCCGGAGGAGCCGCTCCCCTACTCCCGGGCTTTCGGAGAGGATCTAGAGAACTGTGATTTAAATGTGTTGAAAATAAATATCCCAAG
CCAAGATAACAGCGGACTCTTGCTTGGCTTCTCCCAGACACCGCGTCCCCAGGAGGCCCCTCGCCGGTGGGTTTGGCGTCATCACACCCGTGGGTGGTCCCGCCCAGGAGGCCTGTGCTTAATCACTG
TCAGGTGAAGCCACAGCCAGAGGTTAACATGTGAAAGGAAGGGAGAGAGCAAGCCCGGCTTGCAGGCCGCACCCCTGATAGTTTGTTTCACATCCCTAACAAGCAGGGTTTACCTGAGCAAACACACT
TGGCTGGAGGCTGATTTTACTGCCTCCCCTGGGCGGCCACGTTCGGCCCCGTCCCTGCGGGGAGGGCCACGGGCCGCGGGGGGCGCGGGGCTGACGCCCG

hide sequence

RefSeq Acc Id:

XM_054343017 ⟹ XP_054198992

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	2	131,031,906 - 131,033,458 (-)	NCBI


Protein RefSeqs	NP_001257349	(Get FASTA)	NCBI Sequence Viewer
	NP_001257350	(Get FASTA)	NCBI Sequence Viewer
	NP_115934	(Get FASTA)	NCBI Sequence Viewer
	XP_011509788	(Get FASTA)	NCBI Sequence Viewer
	XP_054198992	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAG30294	(Get FASTA)	NCBI Sequence Viewer
	AAG42475	(Get FASTA)	NCBI Sequence Viewer
	AAH69508	(Get FASTA)	NCBI Sequence Viewer
	AAH74825	(Get FASTA)	NCBI Sequence Viewer
	AAH74826	(Get FASTA)	NCBI Sequence Viewer
	AAI10081	(Get FASTA)	NCBI Sequence Viewer
	AAI46898	(Get FASTA)	NCBI Sequence Viewer
	BAF82783	(Get FASTA)	NCBI Sequence Viewer
	BAG37727	(Get FASTA)	NCBI Sequence Viewer
	CCA65395	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000259216
	ENSP00000259216.5
	ENSP00000480526
	ENSP00000480843
GenBank Protein	P0CG37	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_115934 ⟸ NM_032545
- Peptide Label:	isoform 1 precursor
- UniProtKB:	P0CG37 (UniProtKB/Swiss-Prot), A8K229 (UniProtKB/TrEMBL)
- Sequence:	show sequence MTWRHHVRLLFTVSLALQIINLGNSYQREKHNGGREEVTKVATQKHRQSPLNWTSSHFGEVTGSAEGWGPEEPLPYSRAFGEGASARPRCCRNGGTCVLGSFCVCPAHFTGRYCEHDQRRSECGALEH GAWTLRACHLCRCIFGALHCLPLQTPDRCDPKDFLASHAHGPSAGGAPSLLLLLPCALLHRLLRPDAPAHPRSLVPSVLQRERRPCGRPGLGHRL hide sequence

RefSeq Acc Id:	NP_001257350 ⟸ NM_001270421
- Peptide Label:	isoform 3 precursor
- UniProtKB:	A0A087WX98 (UniProtKB/TrEMBL), A0A087WWE4 (UniProtKB/TrEMBL)
- Sequence:	show sequence MTWRHHVRLLFTVSLALQIINLGNSYQREKHNGGREEVTKVATQKHRQSPLNWTSSHFGEVTGSAEGWGPEEPLPYSRAFGEDPKDFLASHAHGPSAGGAPSLLLLLPCALLHRLLRPDAPAHPRSLV PSVLQRERRPCGRPGLGHRL hide sequence

RefSeq Acc Id:	NP_001257349 ⟸ NM_001270420
- Peptide Label:	isoform 2 precursor
- UniProtKB:	A0A087WWV2 (UniProtKB/TrEMBL), A0A087X0G3 (UniProtKB/TrEMBL)
- Sequence:	show sequence MTWRHHVRLLFTVSLALQIINLGNSYQREKHNGGREEVTKVATQKHRQSPLNWTSSHFGEVTGS AEGWGPEEPLPYSRAFGEVNAAPWSTEPGPSAPATSAGASSGPCTASPSRRLTAVTRKTSWPPTLTGRAPGARPACYSCCPAHSCTASCARMRPRTLGPWSLPSSSGSGAPAEGRDLGIAFNFLCCK hide sequence

RefSeq Acc Id:	XP_011509788 ⟸ XM_011511486
- Peptide Label:	isoform X1
- Sequence:	show sequence MTWRHHVRLLFTVSLALQIINLGNSYQREKHNGGREEVTKVATQKHRQSPLNWTSSHFGEVTGSAEGWGPEEPLPYSRAFGEDLENCDLNVLKINIPSQDNSGLLLGFSQTPRPQEAPRRWVWRHHTR GWSRPGGLCLITVR hide sequence

Ensembl Acc Id:

ENSP00000480843 ⟸ ENST00000621673

Protein Domains

EGF-like

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-P0CG37-F1-model_v2	AlphaFold	P0CG37	1-223	view protein structure

RGD ID:

6861584

Promoter ID:

EPDNEW_H3947

Type:

initiation region

Name:

CFC1_1

Description:

cripto, FRL-1, cryptic family 1

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	2	130,599,550 - 130,599,610	EPDNEW

Database	Acc Id	Source(s)
COSMIC	CFC1	COSMIC
Ensembl Genes	ENSG00000136698	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000259216	ENTREZGENE
	ENST00000259216.6	UniProtKB/Swiss-Prot
	ENST00000615342	ENTREZGENE
	ENST00000621673	ENTREZGENE
Gene3D-CATH	Laminin	UniProtKB/Swiss-Prot
GTEx	ENSG00000136698	GTEx
HGNC ID	HGNC:18292	ENTREZGENE
Human Proteome Map	CFC1	Human Proteome Map
InterPro	Cryptic/Cripto_CFC-dom	UniProtKB/Swiss-Prot
	EGF-like_dom	UniProtKB/Swiss-Prot
KEGG Report	hsa:55997	UniProtKB/Swiss-Prot
NCBI Gene	55997	ENTREZGENE
OMIM	605194	OMIM
Pfam	CFC	UniProtKB/Swiss-Prot
PharmGKB	PA134916180	PharmGKB
PROSITE	EGF_1	UniProtKB/Swiss-Prot
	EGF_3	UniProtKB/Swiss-Prot
Superfamily-SCOP	EGF/Laminin	UniProtKB/Swiss-Prot
UniProt	A0A087WWE4	ENTREZGENE
	A0A087WWV2	ENTREZGENE, UniProtKB/TrEMBL
	A0A087WX98	ENTREZGENE, UniProtKB/TrEMBL
	A0A087X0G3	ENTREZGENE
	A8K229	ENTREZGENE, UniProtKB/TrEMBL
	CFC1_HUMAN	UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary	B2RCY0	UniProtKB/Swiss-Prot
	B9EJD3	UniProtKB/Swiss-Prot
	Q53T05	UniProtKB/Swiss-Prot
	Q9GZR3	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2023-06-12	CFC1	cryptic, EGF-CFC family member 1	CFC1	cripto, FRL-1, cryptic family 1	Symbol and/or name change	19259463	PROVISIONAL
2016-04-04	CFC1	cripto, FRL-1, cryptic family 1	HTX2	heterotaxy 2 (autosomal dominant)	Data merged from RGD:1346871	737654	PROVISIONAL

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


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


Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
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MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable

Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

Imported Disease Annotations - OMIM

Imported Human Phenotype Annotations - HPO

Imported Human Phenotype Annotations - ClinVar

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Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

Imported Disease Annotations - OMIM

Imported Human Phenotype Annotations - HPO

Imported Human Phenotype Annotations - ClinVar