FRS3 (fibroblast growth factor receptor substrate 3)

Gene: FRS3 (fibroblast growth factor receptor substrate 3) Homo sapiens

Analyze

Symbol:

FRS3

Name:

fibroblast growth factor receptor substrate 3

RGD ID:

1321005

HGNC Page

HGNC:16970

Description:

Enables fibroblast growth factor receptor binding activity and identical protein binding activity. Acts upstream of or within fibroblast growth factor receptor signaling pathway. Predicted to be located in plasma membrane. Predicted to be active in cytoplasm.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

FGFR substrate 3; FGFR-signaling adaptor SNT2; FRS2-beta; FRS2B; FRS2beta; MGC17167; SNT-2; SNT2; suc1-associated neurotrophic factor target 2 (FGFR signalling adaptor); testicular tissue protein Li 71

RGD Orthologs

Alliance Orthologs

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	6	41,770,176 - 41,779,900 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	6	41,770,176 - 41,786,542 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	6	41,737,914 - 41,747,638 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	6	41,845,892 - 41,855,608 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	6	41,845,891 - 41,855,608	NCBI
Celera	6	43,291,239 - 43,300,959 (-)	NCBI		Celera
Cytogenetic Map	6	p21.1	NCBI
HuRef	6	41,456,636 - 41,466,364 (-)	NCBI		HuRef
CHM1_1	6	41,741,297 - 41,751,016 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	6	41,598,738 - 41,608,458 (-)	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

infantile Refsum disease (IAGP)

Zellweger syndrome (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

1,2-dimethylhydrazine (ISO)

1,3-dinitrobenzene (ISO)

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

4,4'-diaminodiphenylmethane (ISO)

acrylamide (EXP)

aldrin (ISO)

aristolochic acid A (EXP)

benzo[a]pyrene (ISO)

bisphenol A (ISO)

bleomycin A5 (EXP)

butanal (EXP)

cadmium atom (EXP)

cadmium dichloride (EXP)

CGP 52608 (EXP)

cisplatin (EXP)

cocaine (ISO)

Cuprizon (ISO)

decabromodiphenyl ether (EXP)

dicrotophos (EXP)

dimethyl sulfoxide (EXP)

folic acid (ISO)

gentamycin (ISO)

N,N-diethyl-m-toluamide (ISO)

paracetamol (ISO)

permethrin (ISO)

phenytoin (EXP)

titanium dioxide (ISO)

triphenyl phosphate (ISO)

trovafloxacin (ISO)

valproic acid (ISO)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

fibroblast growth factor receptor signaling pathway (IBA,IEA,IGI,TAS)

signal transduction (TAS)

Cellular Component

cytoplasm (IBA,IEA)

membrane (IEA)

plasma membrane (TAS)

Molecular Function

fibroblast growth factor receptor binding (IBA,IEA,IPI)

identical protein binding (IPI)

protein binding (IPI)

transmembrane receptor protein tyrosine kinase adaptor activity (IBA,IEA)

References

References - curated

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

Additional References at PubMed

PMID:8761293	PMID:9660748	PMID:10383403	PMID:10629055	PMID:11432792	PMID:11877385	PMID:12477932	PMID:12586769	PMID:14574404	PMID:15094036	PMID:15188402	PMID:15485655
PMID:15489334	PMID:15738000	PMID:16169070	PMID:16341674	PMID:16702953	PMID:18985028	PMID:19204726	PMID:19322201	PMID:20228838	PMID:21653829	PMID:21873635	PMID:23279575
PMID:25231870	PMID:25416956	PMID:25814554	PMID:32296183

Genomics

Comparative Map Data

FRS3
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	6	41,770,176 - 41,779,900 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	6	41,770,176 - 41,786,542 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	6	41,737,914 - 41,747,638 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	6	41,845,892 - 41,855,608 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	6	41,845,891 - 41,855,608	NCBI
Celera	6	43,291,239 - 43,300,959 (-)	NCBI		Celera
Cytogenetic Map	6	p21.1	NCBI
HuRef	6	41,456,636 - 41,466,364 (-)	NCBI		HuRef
CHM1_1	6	41,741,297 - 41,751,016 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	6	41,598,738 - 41,608,458 (-)	NCBI		T2T-CHM13v2.0

Frs3
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	17	47,998,532 - 48,015,211 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	17	47,999,955 - 48,015,211 (+)	Ensembl		GRCm39 Ensembl
GRCm38	17	47,687,607 - 47,704,286 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	17	47,689,030 - 47,704,286 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	17	47,832,156 - 47,841,235 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	17	47,158,398 - 47,167,477 (+)	NCBI		MGSCv36	mm8
Celera	17	51,131,933 - 51,141,005 (+)	NCBI		Celera
Cytogenetic Map	17	C	NCBI
cM Map	17	23.88	NCBI

Frs3
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	9	20,786,096 - 20,800,905 (-)	NCBI		GRCr8
mRatBN7.2	9	13,288,559 - 13,297,285 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	9	13,288,667 - 13,295,382 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	9	21,868,552 - 21,877,278 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	9	26,932,631 - 26,941,366 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	9	25,231,958 - 25,240,684 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	9	15,297,794 - 15,306,850 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	9	15,297,895 - 15,306,465 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	9	14,222,004 - 14,236,718 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	9	8,754,714 - 8,761,537 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	9	8,755,010 - 8,761,834 (-)	NCBI
Celera	9	11,041,261 - 11,048,084 (-)	NCBI		Celera
Cytogenetic Map	9	q12	NCBI

Frs3
(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_004955437	8,166,140 - 8,175,324 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955437	8,166,724 - 8,182,551 (-)	NCBI	ChiLan1.0	ChiLan1.0

FRS3
(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	5	56,263,185 - 56,279,511 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	6	52,133,184 - 52,149,498 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	6	41,355,365 - 41,371,687 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	6	42,660,065 - 42,667,914 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	6	42,660,065 - 42,667,914 (-)	Ensembl	panpan1.1		panPan2

FRS3
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	12	10,457,186 - 10,472,488 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	12	10,457,539 - 10,465,160 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	12	10,486,643 - 10,496,355 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	12	10,937,385 - 10,947,107 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	12	10,937,362 - 10,947,081 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	12	10,467,975 - 10,477,691 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	12	10,551,661 - 10,561,372 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	12	10,645,374 - 10,655,097 (-)	NCBI		UU_Cfam_GSD_1.0

Frs3
(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_024404946	45,936,331 - 45,951,146 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936476	18,017,892 - 18,023,446 (+)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936476	18,015,953 - 18,023,871 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

FRS3
(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	36,959,468 - 36,969,478 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	7	36,959,468 - 36,969,677 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	7	42,238,861 - 42,248,983 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

FRS3
(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	17	30,383,336 - 30,392,964 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	17	30,386,484 - 30,393,095 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666044	41,764,599 - 41,774,383 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Frs3
(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_004624754	17,289,689 - 17,298,391 (+)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624754	17,288,369 - 17,297,989 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in FRS3
28 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 6p21.2-21.1(chr6:37777369-45653843)x1	copy number loss	See cases [RCV000052181]	Chr6:37777369..45653843 [GRCh38] Chr6:37745145..45621580 [GRCh37] Chr6:37853123..45729558 [NCBI36] Chr6:6p21.2-21.1	pathogenic
GRCh38/hg38 6p21.1-12.3(chr6:41638061-46512949)x1	copy number loss	See cases [RCV000052182]	Chr6:41638061..46512949 [GRCh38] Chr6:41605799..46480686 [GRCh37] Chr6:41713777..46588645 [NCBI36] Chr6:6p21.1-12.3	pathogenic
NM_006653.4(FRS3):c.1337C>T (p.Thr446Ile)	single nucleotide variant	Malignant melanoma [RCV000067366]	Chr6:41770761 [GRCh38] Chr6:41738499 [GRCh37] Chr6:41846477 [NCBI36] Chr6:6p21.1	not provided
GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	copy number gain	See cases [RCV000143497]	Chr6:156974..46789291 [GRCh38] Chr6:156974..46757028 [GRCh37] Chr6:101974..46864987 [NCBI36] Chr6:6p25.3-12.3	pathogenic
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	copy number gain	See cases [RCV000512067]	Chr6:156975..170919482 [GRCh37] Chr6:6p25.3-q27	pathogenic
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	copy number gain	See cases [RCV000510595]	Chr6:156975..170919482 [GRCh37] Chr6:6p25.3-q27	pathogenic
NM_006653.5(FRS3):c.815A>G (p.Asn272Ser)	single nucleotide variant	not specified [RCV004304205]	Chr6:41771283 [GRCh38] Chr6:41739021 [GRCh37] Chr6:6p21.1	uncertain significance
NM_006653.5(FRS3):c.813T>A (p.Asn271Lys)	single nucleotide variant	not specified [RCV004297872]	Chr6:41771285 [GRCh38] Chr6:41739023 [GRCh37] Chr6:6p21.1	uncertain significance
t(6;17)(p21.1;q24.3)	translocation	Camptomelic dysplasia [RCV000617016]	Chr6:41621953..41746502 [GRCh37] Chr17:67666390..67762983 [GRCh37] Chr17:17q24.3 Chr6:6p21.1	likely pathogenic
GRCh37/hg19 6p25.3-q27(chr6:108666-170980171)x3	copy number gain	not provided [RCV000745403]	Chr6:108666..170980171 [GRCh37] Chr6:6p25.3-q27	pathogenic
GRCh37/hg19 6p25.3-q27(chr6:60107-171054786)x3	copy number gain	not provided [RCV000745400]	Chr6:60107..171054786 [GRCh37] Chr6:6p25.3-q27	pathogenic
GRCh37/hg19 6p25.3-q27(chr6:165632-170919470)x3	copy number gain	not provided [RCV000745404]	Chr6:165632..170919470 [GRCh37] Chr6:6p25.3-q27	pathogenic
NM_006653.5(FRS3):c.476C>T (p.Ser159Leu)	single nucleotide variant	not provided [RCV000949298]	Chr6:41771904 [GRCh38] Chr6:41739642 [GRCh37] Chr6:6p21.1	benign
NM_006653.5(FRS3):c.514C>T (p.Pro172Ser)	single nucleotide variant	not provided [RCV000963172]	Chr6:41771866 [GRCh38] Chr6:41739604 [GRCh37] Chr6:6p21.1	benign
GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	copy number gain	not provided [RCV000767714]	Chr6:29455465..81447367 [GRCh37] Chr6:6p22.1-q14.1	pathogenic
NC_000006.11:g.(?_41126341)_(43737486_?)dup	duplication	PRPH2-Related Disorders [RCV003111022]	Chr6:41126341..43737486 [GRCh37] Chr6:6p21.1	uncertain significance
NC_000006.11:g.(?_41126341)_(43752536_?)del	deletion	Peroxisome biogenesis disorder [RCV003110948]	Chr6:41126341..43752536 [GRCh37] Chr6:6p21.1	pathogenic
NM_006653.5(FRS3):c.1192A>G (p.Arg398Gly)	single nucleotide variant	not specified [RCV004311825]	Chr6:41770906 [GRCh38] Chr6:41738644 [GRCh37] Chr6:6p21.1	uncertain significance
NM_006653.5(FRS3):c.1259T>C (p.Val420Ala)	single nucleotide variant	not specified [RCV004314766]	Chr6:41770839 [GRCh38] Chr6:41738577 [GRCh37] Chr6:6p21.1	uncertain significance
NM_006653.5(FRS3):c.536C>T (p.Thr179Ile)	single nucleotide variant	not specified [RCV004332208]	Chr6:41771844 [GRCh38] Chr6:41739582 [GRCh37] Chr6:6p21.1	uncertain significance
NM_006653.5(FRS3):c.242A>G (p.Gln81Arg)	single nucleotide variant	not specified [RCV004166832]	Chr6:41775430 [GRCh38] Chr6:41743168 [GRCh37] Chr6:6p21.1	uncertain significance
NM_006653.5(FRS3):c.1465G>A (p.Asp489Asn)	single nucleotide variant	not specified [RCV004131016]	Chr6:41770633 [GRCh38] Chr6:41738371 [GRCh37] Chr6:6p21.1	uncertain significance
NM_006653.5(FRS3):c.332A>G (p.Asn111Ser)	single nucleotide variant	not specified [RCV004119275]	Chr6:41772881 [GRCh38] Chr6:41740619 [GRCh37] Chr6:6p21.1	uncertain significance
NM_006653.5(FRS3):c.178C>A (p.Leu60Ile)	single nucleotide variant	not specified [RCV004109840]	Chr6:41775494 [GRCh38] Chr6:41743232 [GRCh37] Chr6:6p21.1	uncertain significance
NM_006653.5(FRS3):c.1033G>A (p.Asp345Asn)	single nucleotide variant	not specified [RCV004147824]	Chr6:41771065 [GRCh38] Chr6:41738803 [GRCh37] Chr6:6p21.1	uncertain significance
NM_006653.5(FRS3):c.878G>A (p.Gly293Glu)	single nucleotide variant	not specified [RCV004177094]	Chr6:41771220 [GRCh38] Chr6:41738958 [GRCh37] Chr6:6p21.1	uncertain significance
NM_006653.5(FRS3):c.37G>A (p.Val13Ile)	single nucleotide variant	not specified [RCV004198816]	Chr6:41776951 [GRCh38] Chr6:41744689 [GRCh37] Chr6:6p21.1	likely benign
NM_006653.5(FRS3):c.685C>T (p.Arg229Trp)	single nucleotide variant	not specified [RCV004218223]	Chr6:41771413 [GRCh38] Chr6:41739151 [GRCh37] Chr6:6p21.1	uncertain significance
NM_006653.5(FRS3):c.587C>T (p.Pro196Leu)	single nucleotide variant	not specified [RCV004215664]	Chr6:41771511 [GRCh38] Chr6:41739249 [GRCh37] Chr6:6p21.1	uncertain significance
NM_006653.5(FRS3):c.1046C>T (p.Ser349Leu)	single nucleotide variant	not specified [RCV004230763]	Chr6:41771052 [GRCh38] Chr6:41738790 [GRCh37] Chr6:6p21.1	uncertain significance
NM_006653.5(FRS3):c.670C>T (p.Arg224Trp)	single nucleotide variant	not specified [RCV004231641]	Chr6:41771428 [GRCh38] Chr6:41739166 [GRCh37] Chr6:6p21.1	uncertain significance
NM_006653.5(FRS3):c.1181G>A (p.Arg394His)	single nucleotide variant	not specified [RCV004081702]	Chr6:41770917 [GRCh38] Chr6:41738655 [GRCh37] Chr6:6p21.1	uncertain significance
NM_006653.5(FRS3):c.488G>A (p.Arg163Gln)	single nucleotide variant	not specified [RCV004268499]	Chr6:41771892 [GRCh38] Chr6:41739630 [GRCh37] Chr6:6p21.1	uncertain significance
NM_006653.5(FRS3):c.122C>T (p.Thr41Met)	single nucleotide variant	not specified [RCV004254171]	Chr6:41775550 [GRCh38] Chr6:41743288 [GRCh37] Chr6:6p21.1	uncertain significance
NM_006653.5(FRS3):c.1322C>T (p.Ala441Val)	single nucleotide variant	not specified [RCV004260795]	Chr6:41770776 [GRCh38] Chr6:41738514 [GRCh37] Chr6:6p21.1	uncertain significance
NM_006653.5(FRS3):c.991G>T (p.Val331Leu)	single nucleotide variant	not specified [RCV004339360]	Chr6:41771107 [GRCh38] Chr6:41738845 [GRCh37] Chr6:6p21.1	uncertain significance
NM_006653.5(FRS3):c.908G>T (p.Ser303Ile)	single nucleotide variant	not specified [RCV004343489]	Chr6:41771190 [GRCh38] Chr6:41738928 [GRCh37] Chr6:6p21.1	uncertain significance
NM_006653.5(FRS3):c.1220C>T (p.Pro407Leu)	single nucleotide variant	not specified [RCV004350172]	Chr6:41770878 [GRCh38] Chr6:41738616 [GRCh37] Chr6:6p21.1	uncertain significance
NM_006653.5(FRS3):c.887G>A (p.Arg296Gln)	single nucleotide variant	not specified [RCV004343765]	Chr6:41771211 [GRCh38] Chr6:41738949 [GRCh37] Chr6:6p21.1	uncertain significance
GRCh37/hg19 6p21.31-21.1(chr6:35562152-42003452)x1	copy number loss	not provided [RCV003485510]	Chr6:35562152..42003452 [GRCh37] Chr6:6p21.31-21.1	pathogenic
NM_006653.5(FRS3):c.127A>G (p.Ser43Gly)	single nucleotide variant	not specified [RCV004386881]	Chr6:41775545 [GRCh38] Chr6:41743283 [GRCh37] Chr6:6p21.1	uncertain significance
NM_006653.5(FRS3):c.716A>C (p.Gln239Pro)	single nucleotide variant	not specified [RCV004386885]	Chr6:41771382 [GRCh38] Chr6:41739120 [GRCh37] Chr6:6p21.1	uncertain significance
NM_006653.5(FRS3):c.745G>C (p.Ala249Pro)	single nucleotide variant	not specified [RCV004386886]	Chr6:41771353 [GRCh38] Chr6:41739091 [GRCh37] Chr6:6p21.1	uncertain significance
NM_006653.5(FRS3):c.809A>G (p.Asn270Ser)	single nucleotide variant	not specified [RCV004386888]	Chr6:41771289 [GRCh38] Chr6:41739027 [GRCh37] Chr6:6p21.1	uncertain significance
NM_006653.5(FRS3):c.1177C>T (p.Arg393Cys)	single nucleotide variant	not specified [RCV004386880]	Chr6:41770921 [GRCh38] Chr6:41738659 [GRCh37] Chr6:6p21.1	uncertain significance
NM_006653.5(FRS3):c.430G>A (p.Val144Ile)	single nucleotide variant	not specified [RCV004386883]	Chr6:41771950 [GRCh38] Chr6:41739688 [GRCh37] Chr6:6p21.1	uncertain significance
NM_006653.5(FRS3):c.116A>C (p.Glu39Ala)	single nucleotide variant	not specified [RCV004386879]	Chr6:41775556 [GRCh38] Chr6:41743294 [GRCh37] Chr6:6p21.1	uncertain significance
NM_006653.5(FRS3):c.361C>T (p.Arg121Cys)	single nucleotide variant	not specified [RCV004386882]	Chr6:41772852 [GRCh38] Chr6:41740590 [GRCh37] Chr6:6p21.1	uncertain significance
NM_006653.5(FRS3):c.688G>A (p.Asp230Asn)	single nucleotide variant	not specified [RCV004386884]	Chr6:41771410 [GRCh38] Chr6:41739148 [GRCh37] Chr6:6p21.1	uncertain significance
NM_006653.5(FRS3):c.808A>T (p.Asn270Tyr)	single nucleotide variant	not specified [RCV004386887]	Chr6:41771290 [GRCh38] Chr6:41739028 [GRCh37] Chr6:6p21.1	uncertain significance
NM_006653.5(FRS3):c.973C>G (p.Leu325Val)	single nucleotide variant	not specified [RCV004386889]	Chr6:41771125 [GRCh38] Chr6:41738863 [GRCh37] Chr6:6p21.1	uncertain significance

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	1407
Count of miRNA genes:	703
Interacting mature miRNAs:	818
Transcripts:	ENST00000259748, ENST00000373018, ENST00000422888, ENST00000426290, ENST00000466420
Prediction methods:	Miranda, Rnahybrid, Targetscan
Result types:	miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region

ECD02892

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	6	41,739,669 - 41,740,482	UniSTS	GRCh37
Build 36	6	41,847,647 - 41,848,460	RGD	NCBI36
Celera	6	43,292,994 - 43,293,807	RGD
Cytogenetic Map	6	p21.1	UniSTS
HuRef	6	41,458,391 - 41,459,204	UniSTS

ECD04945

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	6	41,738,036 - 41,738,785	UniSTS	GRCh37
Build 36	6	41,846,014 - 41,846,763	RGD	NCBI36
Celera	6	43,291,361 - 43,292,110	RGD
Cytogenetic Map	6	p21.1	UniSTS
HuRef	6	41,456,758 - 41,457,507	UniSTS

ECD05055

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	6	41,738,830 - 41,739,576	UniSTS	GRCh37
Build 36	6	41,846,808 - 41,847,554	RGD	NCBI36
Celera	6	43,292,155 - 43,292,901	RGD
Cytogenetic Map	6	p21.1	UniSTS
HuRef	6	41,457,552 - 41,458,298	UniSTS

ECD06290

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	6	41,742,753 - 41,743,465	UniSTS	GRCh37
Build 36	6	41,850,731 - 41,851,443	RGD	NCBI36
Celera	6	43,296,082 - 43,296,794	RGD
Cytogenetic Map	6	p21.1	UniSTS
HuRef	6	41,461,479 - 41,462,191	UniSTS

ECD07368

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	6	41,742,062 - 41,742,745	UniSTS	GRCh37
Build 36	6	41,850,040 - 41,850,723	RGD	NCBI36
Celera	6	43,295,391 - 43,296,074	RGD
Cytogenetic Map	6	p21.1	UniSTS
HuRef	6	41,460,788 - 41,461,471	UniSTS

ECD11666

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	6	41,744,401 - 41,744,966	UniSTS	GRCh37
Build 36	6	41,852,379 - 41,852,944	RGD	NCBI36
Celera	6	43,297,730 - 43,298,295	RGD
Cytogenetic Map	6	p21.1	UniSTS
HuRef	6	41,463,127 - 41,463,692	UniSTS

ECD12375

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	6	41,745,684 - 41,746,229	UniSTS	GRCh37
Build 36	6	41,853,662 - 41,854,207	RGD	NCBI36
Celera	6	43,299,013 - 43,299,558	RGD
Cytogenetic Map	6	p21.1	UniSTS
HuRef	6	41,464,410 - 41,464,955	UniSTS

ECD12783

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	6	41,745,086 - 41,745,620	UniSTS	GRCh37
Build 36	6	41,853,064 - 41,853,598	RGD	NCBI36
Celera	6	43,298,415 - 43,298,949	RGD
Cytogenetic Map	6	p21.1	UniSTS
HuRef	6	41,463,812 - 41,464,346	UniSTS

ECD14801

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	6	41,746,443 - 41,746,928	UniSTS	GRCh37
Build 36	6	41,854,421 - 41,854,906	RGD	NCBI36
Celera	6	43,299,772 - 43,300,257	RGD
Cytogenetic Map	6	p21.1	UniSTS
HuRef	6	41,465,169 - 41,465,654	UniSTS

ECD15184

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	6	41,748,522 - 41,748,998	UniSTS	GRCh37
Build 36	6	41,856,500 - 41,856,976	RGD	NCBI36
Celera	6	43,301,851 - 43,302,327	RGD
Cytogenetic Map	6	p21.1	UniSTS
Cytogenetic Map	6	p21.31	UniSTS
HuRef	6	41,467,243 - 41,467,719	UniSTS

ECD15499

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	6	41,749,024 - 41,749,492	UniSTS	GRCh37
Build 36	6	41,857,002 - 41,857,470	RGD	NCBI36
Celera	6	43,302,353 - 43,302,821	RGD
Cytogenetic Map	6	p21.1	UniSTS
Cytogenetic Map	6	p21.31	UniSTS
HuRef	6	41,467,745 - 41,468,213	UniSTS

ECD17096

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	6	41,746,966 - 41,747,379	UniSTS	GRCh37
Build 36	6	41,854,944 - 41,855,357	RGD	NCBI36
Celera	6	43,300,295 - 43,300,708	RGD
Cytogenetic Map	6	p21.1	UniSTS
Cytogenetic Map	6	p21.31	UniSTS
HuRef	6	41,465,692 - 41,466,105	UniSTS

ECD20747

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	6	41,743,649 - 41,743,922	UniSTS	GRCh37
Build 36	6	41,851,627 - 41,851,900	RGD	NCBI36
Celera	6	43,296,978 - 43,297,251	RGD
Cytogenetic Map	6	p21.1	UniSTS
HuRef	6	41,462,375 - 41,462,648	UniSTS

ECD20971

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	6	41,740,520 - 41,740,785	UniSTS	GRCh37
Build 36	6	41,848,498 - 41,848,763	RGD	NCBI36
Celera	6	43,293,849 - 43,294,114	RGD
Cytogenetic Map	6	p21.1	UniSTS
HuRef	6	41,459,246 - 41,459,511	UniSTS

ECD21233

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	6	41,748,051 - 41,748,307	UniSTS	GRCh37
Build 36	6	41,856,029 - 41,856,285	RGD	NCBI36
Celera	6	43,301,380 - 43,301,636	RGD
Cytogenetic Map	6	p21.1	UniSTS
Cytogenetic Map	6	p21.31	UniSTS
HuRef	6	41,466,772 - 41,467,028	UniSTS

ECD24161

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	6	41,747,741 - 41,747,897	UniSTS	GRCh37
Build 36	6	41,855,719 - 41,855,875	RGD	NCBI36
Celera	6	43,301,070 - 43,301,226	RGD
Cytogenetic Map	6	p21.1	UniSTS
Cytogenetic Map	6	p21.31	UniSTS
HuRef	6	41,466,462 - 41,466,618	UniSTS

REN60874

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	6	41,737,629 - 41,737,860	UniSTS	GRCh37
Build 36	6	41,845,607 - 41,845,838	RGD	NCBI36
Celera	6	43,290,953 - 43,291,185	RGD
Cytogenetic Map	6	p21.1	UniSTS
HuRef	6	41,456,350 - 41,456,582	UniSTS

REN60875

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	6	41,737,823 - 41,738,079	UniSTS	GRCh37
Build 36	6	41,845,801 - 41,846,057	RGD	NCBI36
Celera	6	43,291,148 - 43,291,404	RGD
Cytogenetic Map	6	p21.1	UniSTS
HuRef	6	41,456,545 - 41,456,801	UniSTS

REN60876

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	6	41,738,056 - 41,738,306	UniSTS	GRCh37
Build 36	6	41,846,034 - 41,846,284	RGD	NCBI36
Celera	6	43,291,381 - 43,291,631	RGD
Cytogenetic Map	6	p21.1	UniSTS
HuRef	6	41,456,778 - 41,457,028	UniSTS

REN60877

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	6	41,738,249 - 41,738,483	UniSTS	GRCh37
Build 36	6	41,846,227 - 41,846,461	RGD	NCBI36
Celera	6	43,291,574 - 43,291,808	RGD
Cytogenetic Map	6	p21.1	UniSTS
HuRef	6	41,456,971 - 41,457,205	UniSTS

REN60878

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	6	41,738,467 - 41,738,739	UniSTS	GRCh37
Build 36	6	41,846,445 - 41,846,717	RGD	NCBI36
Celera	6	43,291,792 - 43,292,064	RGD
Cytogenetic Map	6	p21.1	UniSTS
HuRef	6	41,457,189 - 41,457,461	UniSTS

REN60879

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	6	41,738,733 - 41,738,986	UniSTS	GRCh37
Build 36	6	41,846,711 - 41,846,964	RGD	NCBI36
Celera	6	43,292,058 - 43,292,311	RGD
Cytogenetic Map	6	p21.1	UniSTS
HuRef	6	41,457,455 - 41,457,708	UniSTS

REN60880

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	6	41,738,967 - 41,739,195	UniSTS	GRCh37
Build 36	6	41,846,945 - 41,847,173	RGD	NCBI36
Celera	6	43,292,292 - 43,292,520	RGD
Cytogenetic Map	6	p21.1	UniSTS
HuRef	6	41,457,689 - 41,457,917	UniSTS

REN60881

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	6	41,739,179 - 41,739,407	UniSTS	GRCh37
Build 36	6	41,847,157 - 41,847,385	RGD	NCBI36
Celera	6	43,292,504 - 43,292,732	RGD
Cytogenetic Map	6	p21.1	UniSTS
HuRef	6	41,457,901 - 41,458,129	UniSTS

REN60882

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	6	41,739,371 - 41,739,603	UniSTS	GRCh37
Build 36	6	41,847,349 - 41,847,581	RGD	NCBI36
Celera	6	43,292,696 - 43,292,928	RGD
Cytogenetic Map	6	p21.1	UniSTS
HuRef	6	41,458,093 - 41,458,325	UniSTS

REN60883

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	6	41,739,573 - 41,739,816	UniSTS	GRCh37
Build 36	6	41,847,551 - 41,847,794	RGD	NCBI36
Celera	6	43,292,898 - 43,293,141	RGD
Cytogenetic Map	6	p21.1	UniSTS
HuRef	6	41,458,295 - 41,458,538	UniSTS

REN60884

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	6	41,739,806 - 41,740,063	UniSTS	GRCh37
Build 36	6	41,847,784 - 41,848,041	RGD	NCBI36
Celera	6	43,293,131 - 43,293,388	RGD
Cytogenetic Map	6	p21.1	UniSTS
HuRef	6	41,458,528 - 41,458,785	UniSTS

REN60885

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	6	41,740,040 - 41,740,285	UniSTS	GRCh37
Build 36	6	41,848,018 - 41,848,263	RGD	NCBI36
Celera	6	43,293,365 - 43,293,610	RGD
Cytogenetic Map	6	p21.1	UniSTS
HuRef	6	41,458,762 - 41,459,007	UniSTS

REN60886

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	6	41,740,248 - 41,740,479	UniSTS	GRCh37
Build 36	6	41,848,226 - 41,848,457	RGD	NCBI36
Celera	6	43,293,573 - 43,293,804	RGD
Cytogenetic Map	6	p21.1	UniSTS
HuRef	6	41,458,970 - 41,459,201	UniSTS

REN60887

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	6	41,740,456 - 41,740,709	UniSTS	GRCh37
Build 36	6	41,848,434 - 41,848,687	RGD	NCBI36
Celera	6	43,293,781 - 43,294,038	RGD
Cytogenetic Map	6	p21.1	UniSTS
HuRef	6	41,459,178 - 41,459,435	UniSTS

REN60888

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	6	41,740,597 - 41,740,842	UniSTS	GRCh37
Build 36	6	41,848,575 - 41,848,820	RGD	NCBI36
Celera	6	43,293,926 - 43,294,171	RGD
Cytogenetic Map	6	p21.1	UniSTS
HuRef	6	41,459,323 - 41,459,568	UniSTS

REN60889

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	6	41,741,073 - 41,741,328	UniSTS	GRCh37
Build 36	6	41,849,051 - 41,849,306	RGD	NCBI36
Celera	6	43,294,402 - 43,294,657	RGD
Cytogenetic Map	6	p21.1	UniSTS
HuRef	6	41,459,799 - 41,460,054	UniSTS

REN60890

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	6	41,741,989 - 41,742,217	UniSTS	GRCh37
Build 36	6	41,849,967 - 41,850,195	RGD	NCBI36
Celera	6	43,295,318 - 43,295,546	RGD
Cytogenetic Map	6	p21.1	UniSTS
HuRef	6	41,460,715 - 41,460,943	UniSTS

REN60891

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	6	41,742,193 - 41,742,421	UniSTS	GRCh37
Build 36	6	41,850,171 - 41,850,399	RGD	NCBI36
Celera	6	43,295,522 - 43,295,750	RGD
Cytogenetic Map	6	p21.1	UniSTS
HuRef	6	41,460,919 - 41,461,147	UniSTS

REN60892

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	6	41,742,397 - 41,742,621	UniSTS	GRCh37
Build 36	6	41,850,375 - 41,850,599	RGD	NCBI36
Celera	6	43,295,726 - 43,295,950	RGD
Cytogenetic Map	6	p21.1	UniSTS
HuRef	6	41,461,123 - 41,461,347	UniSTS

REN60893

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	6	41,742,587 - 41,742,841	UniSTS	GRCh37
Build 36	6	41,850,565 - 41,850,819	RGD	NCBI36
Celera	6	43,295,916 - 43,296,170	RGD
Cytogenetic Map	6	p21.1	UniSTS
HuRef	6	41,461,313 - 41,461,567	UniSTS

REN60894

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	6	41,742,824 - 41,743,075	UniSTS	GRCh37
Build 36	6	41,850,802 - 41,851,053	RGD	NCBI36
Celera	6	43,296,153 - 43,296,404	RGD
Cytogenetic Map	6	p21.1	UniSTS
HuRef	6	41,461,550 - 41,461,801	UniSTS

REN60895

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	6	41,743,052 - 41,743,301	UniSTS	GRCh37
Build 36	6	41,851,030 - 41,851,279	RGD	NCBI36
Celera	6	43,296,381 - 43,296,630	RGD
Cytogenetic Map	6	p21.1	UniSTS
HuRef	6	41,461,778 - 41,462,027	UniSTS

REN60896

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	6	41,743,266 - 41,743,512	UniSTS	GRCh37
Build 36	6	41,851,244 - 41,851,490	RGD	NCBI36
Celera	6	43,296,595 - 43,296,841	RGD
Cytogenetic Map	6	p21.1	UniSTS
HuRef	6	41,461,992 - 41,462,238	UniSTS

REN60897

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	6	41,743,468 - 41,743,709	UniSTS	GRCh37
Build 36	6	41,851,446 - 41,851,687	RGD	NCBI36
Celera	6	43,296,797 - 43,297,038	RGD
Cytogenetic Map	6	p21.1	UniSTS
HuRef	6	41,462,194 - 41,462,435	UniSTS

REN60898

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	6	41,743,706 - 41,743,965	UniSTS	GRCh37
Build 36	6	41,851,684 - 41,851,943	RGD	NCBI36
Celera	6	43,297,035 - 43,297,294	RGD
Cytogenetic Map	6	p21.1	UniSTS
HuRef	6	41,462,432 - 41,462,691	UniSTS

REN60899

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	6	41,743,757 - 41,743,987	UniSTS	GRCh37
Build 36	6	41,851,735 - 41,851,965	RGD	NCBI36
Celera	6	43,297,086 - 43,297,316	RGD
Cytogenetic Map	6	p21.1	UniSTS
HuRef	6	41,462,483 - 41,462,713	UniSTS

REN60900

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	6	41,744,292 - 41,744,527	UniSTS	GRCh37
Build 36	6	41,852,270 - 41,852,505	RGD	NCBI36
Celera	6	43,297,621 - 43,297,856	RGD
Cytogenetic Map	6	p21.1	UniSTS
HuRef	6	41,463,018 - 41,463,253	UniSTS

REN60901

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	6	41,744,525 - 41,744,784	UniSTS	GRCh37
Build 36	6	41,852,503 - 41,852,762	RGD	NCBI36
Celera	6	43,297,854 - 43,298,113	RGD
Cytogenetic Map	6	p21.1	UniSTS
HuRef	6	41,463,251 - 41,463,510	UniSTS

REN60902

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	6	41,744,761 - 41,745,017	UniSTS	GRCh37
Build 36	6	41,852,739 - 41,852,995	RGD	NCBI36
Celera	6	43,298,090 - 43,298,346	RGD
Cytogenetic Map	6	p21.1	UniSTS
HuRef	6	41,463,487 - 41,463,743	UniSTS

REN60903

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	6	41,744,994 - 41,745,240	UniSTS	GRCh37
Build 36	6	41,852,972 - 41,853,218	RGD	NCBI36
Celera	6	43,298,323 - 43,298,569	RGD
Cytogenetic Map	6	p21.1	UniSTS
HuRef	6	41,463,720 - 41,463,966	UniSTS

REN60904

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	6	41,745,217 - 41,745,470	UniSTS	GRCh37
Build 36	6	41,853,195 - 41,853,448	RGD	NCBI36
Celera	6	43,298,546 - 43,298,799	RGD
Cytogenetic Map	6	p21.1	UniSTS
HuRef	6	41,463,943 - 41,464,196	UniSTS

REN60905

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	6	41,745,446 - 41,745,696	UniSTS	GRCh37
Build 36	6	41,853,424 - 41,853,674	RGD	NCBI36
Celera	6	43,298,775 - 43,299,025	RGD
Cytogenetic Map	6	p21.1	UniSTS
HuRef	6	41,464,172 - 41,464,422	UniSTS

REN60906

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	6	41,745,682 - 41,745,932	UniSTS	GRCh37
Build 36	6	41,853,660 - 41,853,910	RGD	NCBI36
Celera	6	43,299,011 - 43,299,261	RGD
Cytogenetic Map	6	p21.1	UniSTS
HuRef	6	41,464,408 - 41,464,658	UniSTS

REN60907

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	6	41,745,908 - 41,746,156	UniSTS	GRCh37
Build 36	6	41,853,886 - 41,854,134	RGD	NCBI36
Celera	6	43,299,237 - 43,299,485	RGD
Cytogenetic Map	6	p21.1	UniSTS
HuRef	6	41,464,634 - 41,464,882	UniSTS

REN60908

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	6	41,746,143 - 41,746,389	UniSTS	GRCh37
Build 36	6	41,854,121 - 41,854,367	RGD	NCBI36
Celera	6	43,299,472 - 43,299,718	RGD
Cytogenetic Map	6	p21.1	UniSTS
HuRef	6	41,464,869 - 41,465,115	UniSTS

REN60909

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	6	41,746,325 - 41,746,571	UniSTS	GRCh37
Build 36	6	41,854,303 - 41,854,549	RGD	NCBI36
Celera	6	43,299,654 - 43,299,900	RGD
Cytogenetic Map	6	p21.1	UniSTS
HuRef	6	41,465,051 - 41,465,297	UniSTS

REN60910

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	6	41,746,548 - 41,746,778	UniSTS	GRCh37
Build 36	6	41,854,526 - 41,854,756	RGD	NCBI36
Celera	6	43,299,877 - 43,300,107	RGD
Cytogenetic Map	6	p21.1	UniSTS
Cytogenetic Map	6	p21.31	UniSTS
HuRef	6	41,465,274 - 41,465,504	UniSTS

REN60911

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	6	41,746,716 - 41,746,974	UniSTS	GRCh37
Build 36	6	41,854,694 - 41,854,952	RGD	NCBI36
Celera	6	43,300,045 - 43,300,303	RGD
Cytogenetic Map	6	p21.1	UniSTS
Cytogenetic Map	6	p21.31	UniSTS
HuRef	6	41,465,442 - 41,465,700	UniSTS

REN60912

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	6	41,746,951 - 41,747,209	UniSTS	GRCh37
Build 36	6	41,854,929 - 41,855,187	RGD	NCBI36
Celera	6	43,300,280 - 43,300,538	RGD
Cytogenetic Map	6	p21.1	UniSTS
Cytogenetic Map	6	p21.31	UniSTS
HuRef	6	41,465,677 - 41,465,935	UniSTS

REN60913

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	6	41,747,139 - 41,747,390	UniSTS	GRCh37
Build 36	6	41,855,117 - 41,855,368	RGD	NCBI36
Celera	6	43,300,468 - 43,300,719	RGD
Cytogenetic Map	6	p21.1	UniSTS
Cytogenetic Map	6	p21.31	UniSTS
HuRef	6	41,465,865 - 41,466,116	UniSTS

REN60914

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	6	41,747,215 - 41,747,480	UniSTS	GRCh37
Build 36	6	41,855,193 - 41,855,458	RGD	NCBI36
Celera	6	43,300,544 - 43,300,809	RGD
Cytogenetic Map	6	p21.1	UniSTS
Cytogenetic Map	6	p21.31	UniSTS
HuRef	6	41,465,941 - 41,466,206	UniSTS

REN60915

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	6	41,747,733 - 41,747,958	UniSTS	GRCh37
Build 36	6	41,855,711 - 41,855,936	RGD	NCBI36
Celera	6	43,301,062 - 43,301,287	RGD
Cytogenetic Map	6	p21.1	UniSTS
Cytogenetic Map	6	p21.31	UniSTS
HuRef	6	41,466,454 - 41,466,679	UniSTS

REN60916

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	6	41,747,957 - 41,748,181	UniSTS	GRCh37
Build 36	6	41,855,935 - 41,856,159	RGD	NCBI36
Celera	6	43,301,286 - 43,301,510	RGD
Cytogenetic Map	6	p21.1	UniSTS
Cytogenetic Map	6	p21.31	UniSTS
HuRef	6	41,466,678 - 41,466,902	UniSTS

REN60917

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	6	41,748,094 - 41,748,323	UniSTS	GRCh37
Build 36	6	41,856,072 - 41,856,301	RGD	NCBI36
Celera	6	43,301,423 - 43,301,652	RGD
Cytogenetic Map	6	p21.1	UniSTS
Cytogenetic Map	6	p21.31	UniSTS
HuRef	6	41,466,815 - 41,467,044	UniSTS

REN60918

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	6	41,748,302 - 41,748,542	UniSTS	GRCh37
Build 36	6	41,856,280 - 41,856,520	RGD	NCBI36
Celera	6	43,301,631 - 43,301,871	RGD
Cytogenetic Map	6	p21.1	UniSTS
Cytogenetic Map	6	p21.31	UniSTS
HuRef	6	41,467,023 - 41,467,263	UniSTS

REN60919

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	6	41,748,520 - 41,748,771	UniSTS	GRCh37
Build 36	6	41,856,498 - 41,856,749	RGD	NCBI36
Celera	6	43,301,849 - 43,302,100	RGD
Cytogenetic Map	6	p21.1	UniSTS
Cytogenetic Map	6	p21.31	UniSTS
HuRef	6	41,467,241 - 41,467,492	UniSTS

REN60920

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	6	41,748,735 - 41,748,986	UniSTS	GRCh37
Build 36	6	41,856,713 - 41,856,964	RGD	NCBI36
Celera	6	43,302,064 - 43,302,315	RGD
Cytogenetic Map	6	p21.1	UniSTS
Cytogenetic Map	6	p21.31	UniSTS
HuRef	6	41,467,456 - 41,467,707	UniSTS

REN60921

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	6	41,748,956 - 41,749,196	UniSTS	GRCh37
Build 36	6	41,856,934 - 41,857,174	RGD	NCBI36
Celera	6	43,302,285 - 43,302,525	RGD
Cytogenetic Map	6	p21.1	UniSTS
Cytogenetic Map	6	p21.31	UniSTS
HuRef	6	41,467,677 - 41,467,917	UniSTS

REN60922

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	6	41,749,173 - 41,749,433	UniSTS	GRCh37
Build 36	6	41,857,151 - 41,857,411	RGD	NCBI36
Celera	6	43,302,502 - 43,302,762	RGD
Cytogenetic Map	6	p21.1	UniSTS
Cytogenetic Map	6	p21.31	UniSTS
HuRef	6	41,467,894 - 41,468,154	UniSTS

FRS3_9186

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	6	41,737,883 - 41,738,594	UniSTS	GRCh37
Build 36	6	41,845,861 - 41,846,572	RGD	NCBI36
Celera	6	43,291,208 - 43,291,919	RGD
HuRef	6	41,456,605 - 41,457,316	UniSTS

stSG635003

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	6	41,738,470 - 41,739,892	UniSTS	GRCh37
Build 36	6	41,846,448 - 41,847,870	RGD	NCBI36
Celera	6	43,291,795 - 43,293,217	RGD
HuRef	6	41,457,192 - 41,458,614	UniSTS

stSG635004

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	6	41,739,873 - 41,741,304	UniSTS	GRCh37
Build 36	6	41,847,851 - 41,849,282	RGD	NCBI36
Celera	6	43,293,198 - 43,294,633	RGD
HuRef	6	41,458,595 - 41,460,030	UniSTS

stSG635005

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	6	41,741,285 - 41,742,362	UniSTS	GRCh37
Build 36	6	41,849,263 - 41,850,340	RGD	NCBI36
Celera	6	43,294,614 - 43,295,691	RGD
HuRef	6	41,460,011 - 41,461,088	UniSTS

stSG635006

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	6	41,742,343 - 41,743,693	UniSTS	GRCh37
Build 36	6	41,850,321 - 41,851,671	RGD	NCBI36
Celera	6	43,295,672 - 43,297,022	RGD
HuRef	6	41,461,069 - 41,462,419	UniSTS

stSG635007

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	6	41,743,675 - 41,745,154	UniSTS	GRCh37
Build 36	6	41,851,653 - 41,853,132	RGD	NCBI36
Celera	6	43,297,004 - 43,298,483	RGD
HuRef	6	41,462,401 - 41,463,880	UniSTS

stSG635008

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	6	41,745,429 - 41,746,531	UniSTS	GRCh37
Build 36	6	41,853,407 - 41,854,509	RGD	NCBI36
Celera	6	43,298,758 - 43,299,860	RGD
HuRef	6	41,464,155 - 41,465,257	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

visual system

adipose tissue

appendage

entire extraembryonic component

pharyngeal arch

High

Medium

851

434

814

111

967

450

2715

949

867

264

796

Low

1588

2487

910

609

1766

456

3389

1747

1019

372

510

746

165

940

1992

Below cutoff

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_006653	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011514254	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011514255	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_017010193	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047418097	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054354066	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054354067	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AF036718	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL365205	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC010611	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BM741175	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471081	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068272	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CR457026	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	HM005384	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	HY036161	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

RefSeq Acc Id:

ENST00000259748 ⟹ ENSP00000259748

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	6	41,770,176 - 41,778,181 (-)	Ensembl

RefSeq Acc Id:

ENST00000373018 ⟹ ENSP00000362109

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	6	41,770,176 - 41,779,900 (-)	Ensembl

RefSeq Acc Id:

ENST00000422888 ⟹ ENSP00000413214

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	6	41,775,563 - 41,786,542 (-)	Ensembl

RefSeq Acc Id:

ENST00000426290 ⟹ ENSP00000396715

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	6	41,772,844 - 41,780,466 (-)	Ensembl

RefSeq Acc Id:

ENST00000466420

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	6	41,776,419 - 41,778,176 (-)	Ensembl

RefSeq Acc Id:

NM_006653 ⟹ NP_006644

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	6	41,770,176 - 41,779,900 (-)	NCBI
GRCh37	6	41,737,914 - 41,747,643 (-)	NCBI
Build 36	6	41,845,892 - 41,855,608 (-)	NCBI Archive
HuRef	6	41,456,636 - 41,466,364 (-)	NCBI
CHM1_1	6	41,741,297 - 41,751,016 (-)	NCBI
T2T-CHM13v2.0	6	41,598,738 - 41,608,458 (-)	NCBI

Sequence:

show sequence

GGGGAGGCCTTAGCTCCGGGCGGGCGGCGGCTGCTGCAGCGGGACCCGGGAGCGGGGCCCGGCG
CCGCCCGGGCCGCGGGGCGATGTGAGCCCCAGGTGTATCCCAGAGGGATCCGGGTGACTTCTCT
GCAGACTGTTTGCCATGACAGCCCACCAAGGACGGGGGGAATAAAGTGGGAACCCTTCCCCATG
CCCCTCCCACGGTCAGCTCCCCGATGGCCTGGGTGAGGGCAGGCTGGCTGCTCTGACACCATGG
GGAGCTGCTGCAGCTGCCTGAACAGAGACAGCGTTCCAGACAACCACCCCACCAAGTTCAAGGT
GACAAATGTGGATGATGAGGGGGTGGAGCTGGGCTCTGGGGTGATGGAGCTGACGCAGAGTGAG
CTGGTGCTGCACCTGCATCGGCGTGAGGCCGTCCGCTGGCCTTATCTCTGCTTGCGGCGCTATG
GCTACGACTCCAACCTCTTCTCCTTTGAGAGTGGCCGCCGATGTCAGACAGGCCAGGGAATATT
TGCATTTAAGTGTTCCCGGGCTGAGGAAATCTTCAACCTCCTTCAGGATCTGATGCAGTGCAAC
AGCATCAATGTGATGGAAGAGCCTGTCATCATCACCCGCAATAGCCACCCCGCTGAGCTTGACC
TCCCTCGAGCCCCCCAGCCACCCAATGCTCTAGGCTACACTGTCTCCAGCTTTTCCAATGGCTG
CCCTGGAGAGGGCCCACGATTCTCAGCTCCCCGGCGGCTCTCGACAAGCAGCCTGCGGCACCCC
TCGCTTGGGGAAGAGTCCACCCATGCCCTCATTGCTCCTGATGAGCAGTCCCACACCTATGTCA
ACACACCGGCCAGTGAAGATGACCACCGCAGGGGCCGCCACTGCCTGCAGCCCCTGCCTGAGGG
TCAGGCACCCTTCCTCCCGCAGGCCCGGGGACCTGACCAACGGGACCCACAGGTGTTCTTGCAG
CCAGGCCAGGTGAAGTTTGTGTTGGGCCCGACCCCTGCTCGGCGGCACATGGTGAAGTGCCAGG
GCCTCTGTCCCAGCCTGCATGACCCCCCACACCACAATAATAACAATGAGGCCCCTTCTGAGTG
TCCAGCCCAGCCCAAGTGCACCTACGAGAACGTCACCGGGGGGCTGTGGCGAGGGGCTGGCTGG
AGACTGAGCCCAGAGGAGCCGGGCTGGAATGGCCTTGCCCACCGCCGGGCCGCCCTGCTGCACT
ATGAGAACCTGCCCCCACTGCCCCCTGTGTGGGAAAGCCAAGCCCAGCAGCTGGGAGGGGAGGC
TGGGGATGATGGGGACTCGAGGGATGGGCTCACACCCTCTTCCAATGGCTTCCCTGATGGTGAG
GAGGACGAGACCCCACTGCAGAAGCCCACCAGCACCCGGGCCGCCATCCGCAGCCACGGCAGCT
TTCCTGTGCCACTGACCCGCCGCCGCGGCTCCCCAAGGGTCTTCAACTTTGATTTCCGCCGGCC
GGGGCCCGAGCCCCCAAGGCAGCTTAACTACATCCAGGTGGAGCTAAAGGGCTGGGGTGGAGAC
CGCCCTAAGGGGCCCCAGAACCCCTCGAGCCCCCAAGCCCCCATGCCCACCACCCACCCTGCCC
GAAGCTCAGACTCCTACGCCGTGATTGACCTCAAAAAGACCGTGGCCATGTCCAACCTGCAGAG
AGCTCTGCCCCGAGACGATGGCACCGCCAGGAAAACCCGGCACAACAGCACCGACCTGCCTCTG
TAGGGACTTCCCGGTCCTCACCACCCTCTGCCCCACCATGATCCAGCCTCTGCCTCACACTCCT
GTCCTCTGAACCCACCCTCCCCAGGGTTCAGGGTTGCTTTGCAGAAGGCATGGAGGTGGGACCA
GATGCTTCCCTGTGCTGGCTGGAGTCCCCAGAGATATCAGCCACCGAGTCTCCTGGTCTGTCTC
CAGGCTGGGGAGAGAAGGGTGACCAGGCGAGGAGGGAGCCGAGACGTCAACTGTGAAGGGTTCC
TGTGATTGCGTTTAGCGCCCTCCCGTTCTGTCCATTTGTCTTGTCTGCCGACTGTCCGTGTGTG
TTTTTTTTGGTTGGAATTTTGAAACATTTTGTACCTGTTGATTTTATTTATCAGTTTATTTTTC
TATTTATTGTTTTAAATGTAATTTAACATATTTATTATTAATATAATTATTTTTAAATTCTG

hide sequence

RefSeq Acc Id:

XM_011514254 ⟹ XP_011512556

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	6	41,770,176 - 41,779,672 (-)	NCBI

Sequence:

show sequence

GGGATCCGGGGACAGCGCGCACCCAGACCTCCTCATTCCTTACGGGCATGTAGAAATTCCCCTT
GACAGTCCTGTAGCCTGTCCTGCAGCCTCTGGCTCCCCCAACCCACCTCTACCCTCTCCGCCCT
GGACACATCATCGCATCTCCTGGAGCCCTCAGAACCCCCTCATTCACTCAACAAATCTCCTGCT
ATGCCCACGGACCCACCATTTCTCTTGGATGCCCCCAAATGCTTCCACTGCCCGGAAATTCCTA
GGATCCCTCATATCCCCATTCTCCTTGCACTATCCAAAATGCCCACATCCAAAATTCTTGCTCA
TGTTTCCCCAAACGTCCTCATACGTTTTCAGCCCCCACACCCCCCTCTCACTCCTGCCCCTGAT
CCATACCTATCCCAGACCAGAGGCCTCTCCCCATTTCCACTCAATGCAGTCCCTCCTCAGTGGG
CTATCTGATACATCCTGATATCTTAAGGAGAAGAGATGGTGATAGGGAAATTCAGCCCCTCCCC
CATCTTGCACCCTAGAGTTCTTCGTTTCAGTGCCCGCGCCGTGCCCCCGTCGGTGGCTCAAGCC
CCAGTATTTTCCCAGCAACCTATCTTTAGTCTGTGCACACCTCCCTGAGCCTGCTTCTTCCTTC
CAGAAAATAAGCCAGACCAAGGGGATGGGGTCCTTTTACCTGGAAGTTGTCCAAGGATGCAGGG
TGCAAGGGGCCCTGGGAAGTGTTTCTCCAGAGCAGGAATGTGGGATGTCCAGGGTCTGCAGAGT
CCTGGCTTGTTGACTTGTCTACCTTGGGCTCAGATATCCTGAAATTTTGGCTTACTGTTAACAT
TTATGTTAAAATTAGGCCTTTCAGAGCTTGGGGAGCAGAAAATCTATCAAGCTTCCAAATGCGA
AATTGAAGCAGCCTGTCTTGGAAGATGAACATGTCAATTTTAGTGAAGTGAGCCCCAGGTGTAT
CCCAGAGGGATCCGGGTGACTTCTCTGCAGACTGTTTGCCATGACAGCCCACCAAGGACGGGGG
GAATAAAGTGGGAACCCTTCCCCATGCCCCTCCCACGGTCAGCTCCCCGATGGCCTGGGTGAGG
GCAGGCTGGCTGCTCTGACACCATGGGGAGCTGCTGCAGCTGCCTGAACAGAGACAGCGTTCCA
GACAACCACCCCACCAAGTTCAAGGTGACAAATGTGGATGATGAGGGGGTGGAGCTGGGCTCTG
GGGTGATGGAGCTGACGCAGAGTGAGCTGGTGCTGCACCTGCATCGGCGTGAGGCCGTCCGCTG
GCCTTATCTCTGCTTGCGGCGCTATGGCTACGACTCCAACCTCTTCTCCTTTGAGAGTGGCCGC
CGATGTCAGACAGGCCAGGGAATATTTGCATTTAAGTGTTCCCGGGCTGAGGAAATCTTCAACC
TCCTTCAGGATCTGATGCAGTGCAACAGCATCAATGTGATGGAAGAGCCTGTCATCATCACCCG
CAATAGCCACCCCGCTGAGCTTGACCTCCCTCGAGCCCCCCAGCCACCCAATGCTCTAGGCTAC
ACTGTCTCCAGCTTTTCCAATGGCTGCCCTGGAGAGGGCCCACGATTCTCAGCTCCCCGGCGGC
TCTCGACAAGCAGCCTGCGGCACCCCTCGCTTGGGGAAGAGTCCACCCATGCCCTCATTGCTCC
TGATGAGCAGTCCCACACCTATGTCAACACACCGGCCAGTGAAGATGACCACCGCAGGGGCCGC
CACTGCCTGCAGCCCCTGCCTGAGGGTCAGGCACCCTTCCTCCCGCAGGCCCGGGGACCTGACC
AACGGGACCCACAGGTGTTCTTGCAGCCAGGCCAGGTGAAGTTTGTGTTGGGCCCGACCCCTGC
TCGGCGGCACATGGTGAAGTGCCAGGGCCTCTGTCCCAGCCTGCATGACCCCCCACACCACAAT
AATAACAATGAGGCCCCTTCTGAGTGTCCAGCCCAGCCCAAGTGCACCTACGAGAACGTCACCG
GGGGGCTGTGGCGAGGGGCTGGCTGGAGACTGAGCCCAGAGGAGCCGGGCTGGAATGGCCTTGC
CCACCGCCGGGCCGCCCTGCTGCACTATGAGAACCTGCCCCCACTGCCCCCTGTGTGGGAAAGC
CAAGCCCAGCAGCTGGGAGGGGAGGCTGGGGATGATGGGGACTCGAGGGATGGGCTCACACCCT
CTTCCAATGGCTTCCCTGATGGTGAGGAGGACGAGACCCCACTGCAGAAGCCCACCAGCACCCG
GGCCGCCATCCGCAGCCACGGCAGCTTTCCTGTGCCACTGACCCGCCGCCGCGGCTCCCCAAGG
GTCTTCAACTTTGATTTCCGCCGGCCGGGGCCCGAGCCCCCAAGGCAGCTTAACTACATCCAGG
TGGAGCTAAAGGGCTGGGGTGGAGACCGCCCTAAGGGGCCCCAGAACCCCTCGAGCCCCCAAGC
CCCCATGCCCACCACCCACCCTGCCCGAAGCTCAGACTCCTACGCCGTGATTGACCTCAAAAAG
ACCGTGGCCATGTCCAACCTGCAGAGAGCTCTGCCCCGAGACGATGGCACCGCCAGGAAAACCC
GGCACAACAGCACCGACCTGCCTCTGTAGGGACTTCCCGGTCCTCACCACCCTCTGCCCCACCA
TGATCCAGCCTCTGCCTCACACTCCTGTCCTCTGAACCCACCCTCCCCAGGGTTCAGGGTTGCT
TTGCAGAAGGCATGGAGGTGGGACCAGATGCTTCCCTGTGCTGGCTGGAGTCCCCAGAGATATC
AGCCACCGAGTCTCCTGGTCTGTCTCCAGGCTGGGGAGAGAAGGGTGACCAGGCGAGGAGGGAG
CCGAGACGTCAACTGTGAAGGGTTCCTGTGATTGCGTTTAGCGCCCTCCCGTTCTGTCCATTTG
TCTTGTCTGCCGACTGTCCGTGTGTGTTTTTTTTGGTTGGAATTTTGAAACATTTTGTACCTGT
TGATTTTATTTATCAGTTTATTTTTCTATTTATTGTTTTAAATGTAATTTAACATATTTATTAT
TAATATAATTATTTTTAAATTCTG

hide sequence

RefSeq Acc Id:

XM_047418097 ⟹ XP_047274053

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	6	41,770,176 - 41,779,900 (-)	NCBI

RefSeq Acc Id:

XM_054354066 ⟹ XP_054210041

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	6	41,598,738 - 41,608,458 (-)	NCBI

RefSeq Acc Id:

XM_054354067 ⟹ XP_054210042

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	6	41,598,738 - 41,608,240 (-)	NCBI

Protein Sequences


Protein RefSeqs	NP_006644	(Get FASTA)	NCBI Sequence Viewer
	XP_011512556	(Get FASTA)	NCBI Sequence Viewer
	XP_047274053	(Get FASTA)	NCBI Sequence Viewer
	XP_054210041	(Get FASTA)	NCBI Sequence Viewer
	XP_054210042	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAB92555	(Get FASTA)	NCBI Sequence Viewer
	AAH10611	(Get FASTA)	NCBI Sequence Viewer
	AEE60984	(Get FASTA)	NCBI Sequence Viewer
	CAG33307	(Get FASTA)	NCBI Sequence Viewer
	EAX04060	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000259748.2
	ENSP00000362109
	ENSP00000362109.3
	ENSP00000396715.1
	ENSP00000413214.1
GenBank Protein	O43559	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:

NP_006644 ⟸ NM_006653

- UniProtKB:

Q5T3D5 (UniProtKB/Swiss-Prot), O43559 (UniProtKB/Swiss-Prot), A0A140VJJ7 (UniProtKB/TrEMBL)

- Sequence:

show sequence

MGSCCSCLNRDSVPDNHPTKFKVTNVDDEGVELGSGVMELTQSELVLHLHRREAVRWPYLCLRR
YGYDSNLFSFESGRRCQTGQGIFAFKCSRAEEIFNLLQDLMQCNSINVMEEPVIITRNSHPAEL
DLPRAPQPPNALGYTVSSFSNGCPGEGPRFSAPRRLSTSSLRHPSLGEESTHALIAPDEQSHTY
VNTPASEDDHRRGRHCLQPLPEGQAPFLPQARGPDQRDPQVFLQPGQVKFVLGPTPARRHMVKC
QGLCPSLHDPPHHNNNNEAPSECPAQPKCTYENVTGGLWRGAGWRLSPEEPGWNGLAHRRAALL
HYENLPPLPPVWESQAQQLGGEAGDDGDSRDGLTPSSNGFPDGEEDETPLQKPTSTRAAIRSHG
SFPVPLTRRRGSPRVFNFDFRRPGPEPPRQLNYIQVELKGWGGDRPKGPQNPSSPQAPMPTTHP
ARSSDSYAVIDLKKTVAMSNLQRALPRDDGTARKTRHNSTDLPL

hide sequence

RefSeq Acc Id:	XP_011512556 ⟸ XM_011514254
- Peptide Label:	isoform X1
- UniProtKB:	Q5T3D5 (UniProtKB/Swiss-Prot), O43559 (UniProtKB/Swiss-Prot), A0A140VJJ7 (UniProtKB/TrEMBL)
- Sequence:	show sequence MGSCCSCLNRDSVPDNHPTKFKVTNVDDEGVELGSGVMELTQSELVLHLHRREAVRWPYLCLRR YGYDSNLFSFESGRRCQTGQGIFAFKCSRAEEIFNLLQDLMQCNSINVMEEPVIITRNSHPAEL DLPRAPQPPNALGYTVSSFSNGCPGEGPRFSAPRRLSTSSLRHPSLGEESTHALIAPDEQSHTY VNTPASEDDHRRGRHCLQPLPEGQAPFLPQARGPDQRDPQVFLQPGQVKFVLGPTPARRHMVKC QGLCPSLHDPPHHNNNNEAPSECPAQPKCTYENVTGGLWRGAGWRLSPEEPGWNGLAHRRAALL HYENLPPLPPVWESQAQQLGGEAGDDGDSRDGLTPSSNGFPDGEEDETPLQKPTSTRAAIRSHG SFPVPLTRRRGSPRVFNFDFRRPGPEPPRQLNYIQVELKGWGGDRPKGPQNPSSPQAPMPTTHP ARSSDSYAVIDLKKTVAMSNLQRALPRDDGTARKTRHNSTDLPL hide sequence

RefSeq Acc Id:

ENSP00000396715 ⟸ ENST00000426290

RefSeq Acc Id:

ENSP00000362109 ⟸ ENST00000373018

RefSeq Acc Id:

ENSP00000259748 ⟸ ENST00000259748

RefSeq Acc Id:

ENSP00000413214 ⟸ ENST00000422888

RefSeq Acc Id:	XP_047274053 ⟸ XM_047418097
- Peptide Label:	isoform X1
- UniProtKB:	O43559 (UniProtKB/Swiss-Prot), Q5T3D5 (UniProtKB/Swiss-Prot), A0A140VJJ7 (UniProtKB/TrEMBL)

RefSeq Acc Id:	XP_054210041 ⟸ XM_054354066
- Peptide Label:	isoform X1
- UniProtKB:	O43559 (UniProtKB/Swiss-Prot), Q5T3D5 (UniProtKB/Swiss-Prot), A0A140VJJ7 (UniProtKB/TrEMBL)

RefSeq Acc Id:	XP_054210042 ⟸ XM_054354067
- Peptide Label:	isoform X1
- UniProtKB:	O43559 (UniProtKB/Swiss-Prot), Q5T3D5 (UniProtKB/Swiss-Prot), A0A140VJJ7 (UniProtKB/TrEMBL)

Protein Domains

IRS-type PTB

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-O43559-F1-model_v2	AlphaFold	O43559	1-492	view protein structure

Promoters

RGD ID:

7208021

Promoter ID:

EPDNEW_H9756

Type:

initiation region

Name:

FRS3_2

Description:

fibroblast growth factor receptor substrate 3

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H9758

Experiment Methods:

Single-end sequencing.; Paired-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	6	41,786,523 - 41,786,583	EPDNEW

RGD ID:

7208025

Promoter ID:

EPDNEW_H9758

Type:

initiation region

Name:

FRS3_1

Description:

fibroblast growth factor receptor substrate 3

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H9756

Experiment Methods:

Single-end sequencing.; Paired-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	6	41,787,570 - 41,787,630	EPDNEW

RGD ID:

6804249

Promoter ID:

HG_KWN:53549

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

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

Transcripts:

OTTHUMT00000040532, OTTHUMT00000106770

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	6	41,855,576 - 41,856,142 (-)	MPROMDB

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:16970	AgrOrtholog
COSMIC	FRS3	COSMIC
Ensembl Genes	ENSG00000137218	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript	ENST00000259748.6	UniProtKB/Swiss-Prot
	ENST00000373018	ENTREZGENE
	ENST00000373018.7	UniProtKB/Swiss-Prot
	ENST00000422888.5	UniProtKB/TrEMBL
	ENST00000426290.1	UniProtKB/TrEMBL
Gene3D-CATH	2.30.29.30	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx	ENSG00000137218	GTEx
HGNC ID	HGNC:16970	ENTREZGENE
Human Proteome Map	FRS3	Human Proteome Map
InterPro	FRS2_PTB	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	IRS_PTB	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	PH-like_dom_sf	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	hsa:10817	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene	10817	ENTREZGENE
OMIM	607744	OMIM
PANTHER	DOCKING PROTEIN RELATED	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	FIBROBLAST GROWTH FACTOR RECEPTOR SUBSTRATE 3	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam	IRS	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA134961503	PharmGKB
PROSITE	IRS_PTB	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART	IRS	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	PTBI	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP	PH domain-like	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt	A0A0A0MSM8_HUMAN	UniProtKB/TrEMBL
	A0A140VJJ7	ENTREZGENE, UniProtKB/TrEMBL
	A6PVU0_HUMAN	UniProtKB/TrEMBL
	FRS3_HUMAN	UniProtKB/Swiss-Prot, ENTREZGENE
	Q5T3D5	ENTREZGENE
UniProt Secondary	Q5T3D5	UniProtKB/Swiss-Prot

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

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

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

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

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Imported Disease Annotations - ClinVar