MYF5 (myogenic factor 5) - Rat Genome Database

Name: MYF5
Creator: Rat Genome Database
License: Creative Commons CC BY 4.0
Keywords: Rat Gene RGD Genome

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Gene: MYF5 (myogenic factor 5) Homo sapiens

Analyze

Symbol:

MYF5

Name:

myogenic factor 5

RGD ID:

1318025

HGNC Page

HGNC:7565

Description:

Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to contribute to E-box binding activity. Predicted to be involved in several processes, including muscle cell fate commitment; positive regulation of cell differentiation; and skeletal muscle cell differentiation. Predicted to act upstream of or within several processes, including skeletal muscle tissue development; skeletal system morphogenesis; and somitogenesis. Located in nucleoplasm.

Type:

protein-coding

RefSeq Status:

VALIDATED

Previously known as:

bHLHc2; class C basic helix-loop-helix protein 2; EORVA; myf-5

RGD Orthologs

Mouse

Rat

Chinchilla

Bonobo

Dog

Squirrel

Pig

Green Monkey

Naked Mole-Rat

Alliance Genes

More Info

more info ...

More Info

Species	Gene symbol and name	Data Source	Assertion derived from	less info ...
Orthologs ¹				less info ...
Mus musculus (house mouse):	Myf5 (myogenic factor 5)	HGNC	EggNOG, Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Rattus norvegicus (Norway rat):	Myf5 (myogenic factor 5)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Chinchilla lanigera (long-tailed chinchilla):	Myf5 (myogenic factor 5)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	MYF5 (myogenic factor 5)	NCBI	Ortholog
Canis lupus familiaris (dog):	MYF5 (myogenic factor 5)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, Treefam
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Myf5 (myogenic factor 5)	NCBI	Ortholog
Sus scrofa (pig):	MYF5 (myogenic factor 5)	HGNC	EggNOG, Ensembl, NCBI, OMA, OrthoDB, Panther, Treefam
Chlorocebus sabaeus (green monkey):	MYF5 (myogenic factor 5)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Myf5 (myogenic factor 5)	NCBI	Ortholog
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Myf5 (myogenic factor 5)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Mus musculus (house mouse):	Myf5 (myogenic factor 5)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Danio rerio (zebrafish):	myf5 (myogenic factor 5)	Alliance	DIOPT (Ensembl Compara\|InParanoid\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid\|ZFIN)
Caenorhabditis elegans (roundworm):	hlh-1	Alliance	DIOPT (Ensembl Compara\|OrthoFinder\|OrthoInspector\|PANTHER\|SonicParanoid)
Drosophila melanogaster (fruit fly):	nau	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OrthoFinder\|OrthoInspector\|PANTHER\|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	12	80,716,912 - 80,719,671 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p13 Ensembl	12	80,716,912 - 80,719,671 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	12	81,110,691 - 81,113,450 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	12	79,634,839 - 79,637,578 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	12	79,613,268 - 79,615,915	NCBI
Celera	12	80,776,922 - 80,779,661 (+)	NCBI		Celera
Cytogenetic Map	12	q21.31	NCBI
HuRef	12	78,167,593 - 78,170,332 (+)	NCBI		HuRef
CHM1_1	12	81,077,115 - 81,079,854 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	12	80,695,622 - 80,698,381 (+)	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

OPHTHALMOPLEGIA, EXTERNAL, WITH RIB AND VERTEBRAL ANOMALIES (IAGP)

scoliosis (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

3-chloropropane-1,2-diol (ISO)

4,4'-sulfonyldiphenol (ISO)

5-azacytidine (ISO)

5-fluorouracil (ISO)

acetic acid (ISO)

amiloride (EXP)

benzo[a]pyrene (EXP,ISO)

bis(2-chloroethyl) sulfide (ISO)

bisphenol A (EXP,ISO)

bromochloroacetic acid (ISO)

bupivacaine (ISO)

cadmium atom (EXP,ISO)

CGP 52608 (EXP)

chromium atom (ISO)

dexamethasone (ISO)

dorsomorphin (EXP)

genistein (ISO)

lipopolysaccharide (ISO)

panobinostat (EXP)

paracetamol (EXP)

Ptaquiloside (ISO)

resveratrol (ISO)

SB 431542 (EXP)

sirolimus (ISO)

sodium arsenite (ISO)

spermine (ISO)

valproic acid (EXP,ISO)

vorinostat (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

anatomical structure development (IEA)

camera-type eye development (IEA,ISO)

cartilage condensation (IEA,ISO)

cell differentiation (IEA)

embryonic skeletal system morphogenesis (IEA,ISO)

extracellular matrix organization (IEA,ISO)

muscle cell fate commitment (ISS)

muscle organ development (IEA,ISO,TAS)

muscle organ morphogenesis (IEA,ISO)

muscle tissue morphogenesis (IEA,ISO)

ossification (IEA,ISO)

positive regulation of myoblast differentiation (IBA)

positive regulation of skeletal muscle fiber development (IBA)

positive regulation of transcription by RNA polymerase II (IEA,ISO)

regulation of cell-matrix adhesion (IEA,ISO)

regulation of DNA-templated transcription (IEA)

regulation of transcription by RNA polymerase II (IBA,TAS)

skeletal muscle cell differentiation (IBA,IEA,ISO)

skeletal muscle tissue development (IEA,ISO,TAS)

somitogenesis (IEA,ISO)

Cellular Component

chromatin (ISA)

nucleoplasm (IDA,TAS)

nucleus (IEA)

RNA polymerase II transcription regulator complex (ISS)

Molecular Function

DNA binding (IEA)

DNA-binding transcription activator activity, RNA polymerase II-specific (IEA)

DNA-binding transcription factor activity, RNA polymerase II-specific (IBA,ISA,TAS)

E-box binding (ISS)

protein binding (IPI)

protein dimerization activity (IEA)

RNA polymerase II cis-regulatory region sequence-specific DNA binding (IBA)

sequence-specific DNA binding (IEA)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Abnormal rib morphology (IAGP)

Autosomal recessive inheritance (IAGP)

Basilar invagination (IAGP)

Exotropia (IAGP)

External ophthalmoplegia (IAGP)

Hypotropia (IAGP)

Missing ribs (IAGP)

Pectus excavatum (IAGP)

Pseudoarthrosis (IAGP)

Ptosis (IAGP)

Scoliosis (IAGP)

Short ribs (IAGP)

Torticollis (IAGP)

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:2311584	PMID:2385294	PMID:2721498	PMID:8035824	PMID:8797820	PMID:8978788	PMID:9242638	PMID:9418854	PMID:9461343	PMID:10757985	PMID:10930450	PMID:12105204
PMID:12204280	PMID:12477932	PMID:15342556	PMID:15923648	PMID:16614355	PMID:19192046	PMID:19274049	PMID:19453261	PMID:19829708	PMID:21810080	PMID:21873635	PMID:24595098
PMID:28080960	PMID:29844345	PMID:29887215	PMID:32296183	PMID:34431227

Genomics

Comparative Map Data

MYF5
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	12	80,716,912 - 80,719,671 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p13 Ensembl	12	80,716,912 - 80,719,671 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	12	81,110,691 - 81,113,450 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	12	79,634,839 - 79,637,578 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	12	79,613,268 - 79,615,915	NCBI
Celera	12	80,776,922 - 80,779,661 (+)	NCBI		Celera
Cytogenetic Map	12	q21.31	NCBI
HuRef	12	78,167,593 - 78,170,332 (+)	NCBI		HuRef
CHM1_1	12	81,077,115 - 81,079,854 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	12	80,695,622 - 80,698,381 (+)	NCBI		T2T-CHM13v2.0

Myf5
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	10	107,318,769 - 107,322,787 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	10	107,318,769 - 107,321,995 (-)	Ensembl		GRCm39 Ensembl
GRCm38	10	107,482,908 - 107,486,927 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	10	107,482,908 - 107,486,134 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	10	106,919,964 - 106,923,190 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	10	106,887,018 - 106,890,244 (-)	NCBI		MGSCv36	mm8
Celera	10	109,425,392 - 109,428,623 (-)	NCBI		Celera
Cytogenetic Map	10	D1	NCBI
cM Map	10	55.95	NCBI

Myf5
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
mRatBN7.2	7	42,802,946 - 42,806,177 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	7	42,802,946 - 42,806,177 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	7	44,715,406 - 44,718,610 (-)	NCBI	Rnor_SHR
UTH_Rnor_SHRSP_BbbUtx_1.0	7	46,918,487 - 46,921,691 (-)	NCBI	Rnor_SHRSP
UTH_Rnor_WKY_Bbb_1.0	7	46,696,321 - 46,699,525 (-)	NCBI	Rnor_WKY
Rnor_6.0	7	49,729,533 - 49,732,974 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	7	49,729,533 - 49,732,764 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	7	49,739,441 - 49,742,672 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	7	46,189,256 - 46,192,487 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	7	46,210,584 - 46,212,529 (-)	NCBI
Celera	7	39,675,643 - 39,678,874 (-)	NCBI		Celera
Cytogenetic Map	7	q21	NCBI

Myf5
(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_004955405	19,345,943 - 19,348,453 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955405	19,345,943 - 19,348,453 (+)	NCBI	ChiLan1.0	ChiLan1.0

MYF5
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
PanPan1.1	12	81,347,640 - 81,350,389 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	12	81,347,324 - 81,350,389 (+)	Ensembl	panpan1.1		panPan2
Mhudiblu_PPA_v0	12	78,236,945 - 78,239,701 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3

MYF5
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	15	23,049,235 - 23,051,604 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	15	23,048,585 - 23,051,970 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	15	23,473,030 - 23,475,426 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	15	23,410,137 - 23,412,529 (+)	NCBI		ROS_Cfam_1.0
UMICH_Zoey_3.1	15	22,987,463 - 22,989,855 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	15	23,046,938 - 23,049,333 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	15	23,287,307 - 23,290,205 (+)	NCBI		UU_Cfam_GSD_1.0

Myf5
(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_024404945	37,300,158 - 37,303,273 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936698	1,609,227 - 1,611,283 (+)	Ensembl	SpeTri2.0
SpeTri2.0	NW_004936698	1,609,227 - 1,611,283 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

MYF5
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	5	100,752,890 - 100,755,494 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	5	100,753,440 - 100,755,558 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	5	105,701,164 - 105,703,283 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

MYF5
(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	11	76,189,122 - 76,193,830 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	11	76,191,579 - 76,193,549 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666037	169,243,360 - 169,246,115 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Myf5
(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_004624837	33,864 - 35,837 (+)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624837	33,735 - 36,052 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in MYF5
5 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 12q15-21.31(chr12:70337484-81761145)x1	copy number loss	See cases [RCV000051313]	Chr12:70337484..81761145 [GRCh38] Chr12:70731264..82154924 [GRCh37] Chr12:69017531..80679055 [NCBI36] Chr12:12q15-21.31	pathogenic
GRCh38/hg38 12q21.31(chr12:80266605-85253555)x1	copy number loss	See cases [RCV000051315]	Chr12:80266605..85253555 [GRCh38] Chr12:80660385..85647333 [GRCh37] Chr12:79184516..84171464 [NCBI36] Chr12:12q21.31	pathogenic
GRCh38/hg38 12q21.31(chr12:80393097-81021534)x1	copy number loss	See cases [RCV000051316]	Chr12:80393097..81021534 [GRCh38] Chr12:80786877..81415313 [GRCh37] Chr12:79311008..79939444 [NCBI36] Chr12:12q21.31	pathogenic
GRCh38/hg38 12q21.31(chr12:80530108-80719071)x1	copy number loss	See cases [RCV000051317]	Chr12:80530108..80719071 [GRCh38] Chr12:80923887..81112850 [GRCh37] Chr12:79448018..79636981 [NCBI36] Chr12:12q21.31	pathogenic
GRCh38/hg38 12q21.31(chr12:80538484-80798086)x1	copy number loss	See cases [RCV000051318]	Chr12:80538484..80798086 [GRCh38] Chr12:80932263..81191865 [GRCh37] Chr12:79456394..79715996 [NCBI36] Chr12:12q21.31	pathogenic
GRCh38/hg38 12q21.2-21.31(chr12:77564757-85370822)x3	copy number gain	See cases [RCV000053684]	Chr12:77564757..85370822 [GRCh38] Chr12:77958537..85764600 [GRCh37] Chr12:76482668..84288731 [NCBI36] Chr12:12q21.2-21.31	pathogenic
NM_005593.2(MYF5):c.12G>A (p.Met4Ile)	single nucleotide variant	Malignant melanoma [RCV000070232]	Chr12:80717075 [GRCh38] Chr12:81110854 [GRCh37] Chr12:79634985 [NCBI36] Chr12:12q21.31	not provided
NM_005593.2(MYF5):c.449G>T (p.Gly150Val)	single nucleotide variant	Malignant melanoma [RCV000070233]	Chr12:80717512 [GRCh38] Chr12:81111291 [GRCh37] Chr12:79635422 [NCBI36] Chr12:12q21.31	not provided
GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	copy number gain	See cases [RCV000139555]	Chr12:121271..133196807 [GRCh38] Chr12:282465..133773393 [GRCh37] Chr12:100698..132283466 [NCBI36] Chr12:12p13.33-q24.33	pathogenic
GRCh38/hg38 12q21.2-21.31(chr12:76566873-82021089)x1	copy number loss	See cases [RCV000141023]	Chr12:76566873..82021089 [GRCh38] Chr12:76960653..82414868 [GRCh37] Chr12:75484784..80938999 [NCBI36] Chr12:12q21.2-21.31	likely pathogenic
GRCh38/hg38 12q21.1-22(chr12:73485697-92795805)x1	copy number loss	See cases [RCV000143099]	Chr12:73485697..92795805 [GRCh38] Chr12:73879477..93189581 [GRCh37] Chr12:72165744..91713712 [NCBI36] Chr12:12q21.1-22	pathogenic
GRCh37/hg19 12q21.31(chr12:80945046-81113470)x1	copy number loss	See cases [RCV000240132]	Chr12:80945046..81113470 [GRCh37] Chr12:12q21.31	uncertain significance
GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	copy number gain	See cases [RCV000258805]	Chr12:1..133851895 [GRCh37] Chr12:12p13.33-q24.33	pathogenic\|likely pathogenic
GRCh37/hg19 12q21.31(chr12:80927874-81503412)x3	copy number gain	Ductal breast carcinoma [RCV000207319]	Chr12:80927874..81503412 [GRCh37] Chr12:12q21.31	uncertain significance
NM_005593.3(MYF5):c.23_32del (p.Gln8fs)	deletion	Ophthalmoplegia, external, with rib and vertebral anomalies [RCV000714295]\|Scoliosis [RCV000659262]	Chr12:80717084..80717093 [GRCh38] Chr12:81110863..81110872 [GRCh37] Chr12:12q21.31	pathogenic
GRCh37/hg19 12q21.31(chr12:81075122-81163129)x1	copy number loss	See cases [RCV000446795]	Chr12:81075122..81163129 [GRCh37] Chr12:12q21.31	uncertain significance
GRCh37/hg19 12q21.31(chr12:80902982-81207393)x1	copy number loss	See cases [RCV000447661]	Chr12:80902982..81207393 [GRCh37] Chr12:12q21.31	uncertain significance
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	copy number gain	See cases [RCV000510482]	Chr12:173787..133777902 [GRCh37] Chr12:12p13.33-q24.33	pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	copy number gain	See cases [RCV000511643]	Chr12:173787..133777902 [GRCh37] Chr12:12p13.33-q24.33	pathogenic
GRCh37/hg19 12q21.31(chr12:80622857-81449637)x3	copy number gain	See cases [RCV000512357]	Chr12:80622857..81449637 [GRCh37] Chr12:12q21.31	uncertain significance
NM_005593.3(MYF5):c.283C>T (p.Arg95Cys)	single nucleotide variant	Ophthalmoplegia, external, with rib and vertebral anomalies [RCV000714296]\|Scoliosis [RCV000714278]	Chr12:80717346 [GRCh38] Chr12:81111125 [GRCh37] Chr12:12q21.31	pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:191619-133777645)x3	copy number gain	not provided [RCV000750246]	Chr12:191619..133777645 [GRCh37] Chr12:12p13.33-q24.33	pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:621220-133779118)x3	copy number gain	not provided [RCV000750253]	Chr12:621220..133779118 [GRCh37] Chr12:12p13.33-q24.33	pathogenic
GRCh37/hg19 12q15-21.33(chr12:69608090-89629345)x1	copy number loss	not provided [RCV000737927]	Chr12:69608090..89629345 [GRCh37] Chr12:12q15-21.33	pathogenic
GRCh37/hg19 12q21.31(chr12:80883788-81175910)x1	copy number loss	not provided [RCV000737957]	Chr12:80883788..81175910 [GRCh37] Chr12:12q21.31	pathogenic
NM_005593.3(MYF5):c.138G>A (p.Leu46=)	single nucleotide variant	not provided [RCV000969076]	Chr12:80717201 [GRCh38] Chr12:81110980 [GRCh37] Chr12:12q21.31	benign
GRCh37/hg19 12q21.2-22(chr12:77737623-94330526)x1	copy number loss	not provided [RCV000848027]	Chr12:77737623..94330526 [GRCh37] Chr12:12q21.2-22	pathogenic
GRCh37/hg19 12q21.2-21.31(chr12:79302790-82128250)x1	copy number loss	not provided [RCV001006516]	Chr12:79302790..82128250 [GRCh37] Chr12:12q21.2-21.31	uncertain significance
NM_005593.3(MYF5):c.51C>G (p.Asp17Glu)	single nucleotide variant	Ophthalmoplegia, external, with rib and vertebral anomalies [RCV001330096]	Chr12:80717114 [GRCh38] Chr12:81110893 [GRCh37] Chr12:12q21.31	uncertain significance
GRCh37/hg19 12q21.31(chr12:80902982-81207393)	copy number loss	not specified [RCV002053003]	Chr12:80902982..81207393 [GRCh37] Chr12:12q21.31	uncertain significance

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	214
Count of miRNA genes:	168
Interacting mature miRNAs:	179
Transcripts:	ENST00000228644
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

GDB:384940

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	12	81,112,865 - 81,113,111	UniSTS	GRCh37
Build 36	12	79,636,996 - 79,637,242	RGD	NCBI36
Celera	12	80,779,079 - 80,779,325	RGD
Cytogenetic Map	12	q21	UniSTS
HuRef	12	78,169,750 - 78,169,996	UniSTS

SHGC-104971

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	12	81,108,792 - 81,109,118	UniSTS	GRCh37
Build 36	12	79,632,923 - 79,633,249	RGD	NCBI36
Celera	12	80,775,006 - 80,775,332	RGD
Cytogenetic Map	12	q21	UniSTS
HuRef	12	78,165,677 - 78,166,003	UniSTS
TNG Radiation Hybrid Map	12	38882.0	UniSTS

WI-16580

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	12	81,110,724 - 81,110,857	UniSTS	GRCh37
Build 36	12	79,634,855 - 79,634,988	RGD	NCBI36
Celera	12	80,776,938 - 80,777,071	RGD
Cytogenetic Map	12	q21	UniSTS
HuRef	12	78,167,609 - 78,167,742	UniSTS
GeneMap99-GB4 RH Map	12	350.08	UniSTS
Whitehead-RH Map	12	455.1	UniSTS

SHGC-12688

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	12	81,112,844 - 81,113,177	UniSTS	GRCh37
Build 36	12	79,636,975 - 79,637,308	RGD	NCBI36
Celera	12	80,779,058 - 80,779,391	RGD
Cytogenetic Map	12	q21	UniSTS
HuRef	12	78,169,729 - 78,170,062	UniSTS
TNG Radiation Hybrid Map	12	38865.0	UniSTS
Stanford-G3 RH Map	12	3214.0	UniSTS
GeneMap99-G3 RH Map	12	3160.0	UniSTS

Myf5

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	12	81,111,210 - 81,112,197	UniSTS	GRCh37
Celera	12	80,777,424 - 80,778,411	UniSTS
HuRef	12	78,168,095 - 78,169,082	UniSTS

MYF5HAEIII

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	12	81,111,575 - 81,112,766	UniSTS	GRCh37
Celera	12	80,777,789 - 80,778,980	UniSTS
HuRef	12	78,168,460 - 78,169,651	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	pharyngeal arch
High
Medium		1			1		25	28	1		1	1	1			25
Low	10	2	5	18	3		770	783	5	6	24	6	19	1		767	1
Below cutoff	106	177	128	60	69	11	282	98	211	58	298	73	49		69	131

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_005593	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AC025568	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC069373	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BP231293	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BT019399	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BX089431	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471054	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068266	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CS018099	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CS025614	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KT584083	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	U27313	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	X14894	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Reference Sequences

RefSeq Acc Id:

ENST00000228644 ⟹ ENSP00000228644

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	12	80,716,912 - 80,719,671 (+)	Ensembl

RefSeq Acc Id:

NM_005593 ⟹ NP_005584

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	12	80,716,912 - 80,719,671 (+)	NCBI
GRCh37	12	81,110,708 - 81,113,447 (+)	ENTREZGENE
Build 36	12	79,634,839 - 79,637,578 (+)	NCBI Archive
HuRef	12	78,167,593 - 78,170,332 (+)	ENTREZGENE
CHM1_1	12	81,077,115 - 81,079,854 (+)	NCBI
T2T-CHM13v2.0	12	80,695,622 - 80,698,381 (+)	NCBI

Sequence:

show sequence

ACCCAGGCCAACAGGCGTCTGCCCTTGTTAATTACCGGAGCGACAGACTAGGGAGCTCCGCCCG
GGATTTGCCCATCGGCGGAGGCGCCAGGCTCCCGTTTCTCCCCATCCCTCTCGCTGCCGTCCAG
GTGCACCGCCTGCCTCTCAGCAGGATGGACGTGATGGATGGCTGCCAGTTCTCACCTTCTGAGT
ACTTCTACGACGGCTCCTGCATACCGTCCCCCGAGGGTGAATTTGGGGACGAGTTTGTGCCGCG
AGTGGCTGCCTTCGGAGCGCACAAAGCAGAGCTGCAGGGCTCAGATGAGGACGAGCACGTGCGA
GCGCCTACCGGCCACCACCAGGCTGGTCACTGCCTCATGTGGGCCTGCAAAGCCTGCAAGAGGA
AGTCCACCACCATGGATCGGCGGAAGGCAGCCACTATGCGCGAGCGGAGGCGCCTGAAGAAGGT
CAACCAGGCTTTCGAAACCCTCAAGAGGTGTACCACGACCAACCCCAACCAGAGGCTGCCCAAG
GTGGAGATCCTCAGGAATGCCATCCGCTACATCGAGAGCCTGCAGGAGTTGCTGAGAGAGCAGG
TGGAGAACTACTATAGCCTGCCGGGACAGAGCTGCTCGGAGCCCACCAGCCCCACCTCCAACTG
CTCTGATGGCATGCCCGAATGTAACAGTCCTGTCTGGTCCAGAAAGAGCAGTACTTTTGACAGC
ATCTACTGTCCTGATGTATCAAATGTATATGCCACAGATAAAAACTCCTTATCCAGCTTGGATT
GCTTATCCAACATAGTGGACCGGATCACCTCCTCAGAGCAACCTGGGTTGCCTCTCCAGGATCT
GGCTTCTCTCTCTCCAGTTGCCAGCACCGATTCACAGCCTGCAACTCCAGGGGCTTCTAGTTCC
AGGCTTATCTATCATGTGCTATGAACTAATTTTCTGGTCTATATGACTTCTTCCAGGAGGGCCT
AATACACAGGAAGAAGAAGGCTTCAAAAAGTCCCAAACCAAGACAACATGTACATAAAGATTTC
TTTTCAGTTGTAAATTTGTAAAGATTACCTTGCCACTTTATAAGAAAGTGTATTTAACTAAAAA
GTCATCATTGCAAATAATACTTTCTTCTTCTTTATTATTCTTTGCTTAGATATTAATACATAGT
TCCAGTAATACTATTTCTGATAGGGGGCCATTGATTGAGGGTAGCTTGTTGCAATGCTTAACTT
ATATATACATATATATATATTATAAATATTGCTCATCAAAATGTCTCTGGTGTTTAGAGCTTTA
TTTTTTTCTTTAAAACATTAAAACAGCTGAGAATCAGTTAAATGGAATTTTAAATATATTTAAC
TATTTCTTTTCTCTTTAATCCTTTAGTTATATTGTATTAAATAAAAATATAATACTGCCTAATG
TATATATTTTGATCTTTTCTTGTAAGAAATGTATCTTTTAAATGTAAGCACAAAATAGTACTTT
GTGGATCATTTCAAGATATAAGAAATTTTGGAAATTCCACCATAAATAAAATTTTTTACTACAA
GAAA

hide sequence

Protein Sequences


Protein RefSeqs	NP_005584	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAA69824	(Get FASTA)	NCBI Sequence Viewer
	AAH69373	(Get FASTA)	NCBI Sequence Viewer
	AAV38206	(Get FASTA)	NCBI Sequence Viewer
	CAA33025	(Get FASTA)	NCBI Sequence Viewer
	CAI58664	(Get FASTA)	NCBI Sequence Viewer
	CAI61684	(Get FASTA)	NCBI Sequence Viewer
	EAW97368	(Get FASTA)	NCBI Sequence Viewer
	P13349	(Get FASTA)	NCBI Sequence Viewer

Reference Sequences

RefSeq Acc Id:

NP_005584 ⟸ NM_005593

- UniProtKB:

Q6ISR9 (UniProtKB/Swiss-Prot), P13349 (UniProtKB/Swiss-Prot)

- Sequence:

show sequence

MDVMDGCQFSPSEYFYDGSCIPSPEGEFGDEFVPRVAAFGAHKAELQGSDEDEHVRAPTGHHQA
GHCLMWACKACKRKSTTMDRRKAATMRERRRLKKVNQAFETLKRCTTTNPNQRLPKVEILRNAI
RYIESLQELLREQVENYYSLPGQSCSEPTSPTSNCSDGMPECNSPVWSRKSSTFDSIYCPDVSN
VYATDKNSLSSLDCLSNIVDRITSSEQPGLPLQDLASLSPVASTDSQPATPGASSSRLIYHVL

hide sequence

RefSeq Acc Id:

ENSP00000228644 ⟸ ENST00000228644

Protein Domains

bHLH

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-P13349-F1-model_v2	AlphaFold	P13349	1-255	view protein structure

Promoters

RGD ID:

7224907

Promoter ID:

EPDNEW_H18199

Type:

single initiation site

Name:

MYF5_1

Description:

myogenic factor 5

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	12	80,716,912 - 80,716,972	EPDNEW

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:7565	AgrOrtholog
COSMIC	MYF5	COSMIC
Ensembl Genes	ENSG00000111049	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein	ENSP00000228644	ENTREZGENE
	ENSP00000228644.3	UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000228644	ENTREZGENE
	ENST00000228644.4	UniProtKB/Swiss-Prot
Gene3D-CATH	4.10.280.10	UniProtKB/Swiss-Prot
GTEx	ENSG00000111049	GTEx
HGNC ID	HGNC:7565	ENTREZGENE
Human Proteome Map	MYF5	Human Proteome Map
InterPro	Basic	UniProtKB/Swiss-Prot
	bHLH_dom	UniProtKB/Swiss-Prot
	HLH_DNA-bd_sf	UniProtKB/Swiss-Prot
	Myf5	UniProtKB/Swiss-Prot
	Myogenic_factor	UniProtKB/Swiss-Prot
KEGG Report	hsa:4617	UniProtKB/Swiss-Prot
NCBI Gene	4617	ENTREZGENE
OMIM	159990	OMIM
	618155	OMIM
PANTHER	PTHR11534	UniProtKB/Swiss-Prot
Pfam	Basic	UniProtKB/Swiss-Prot
	HLH	UniProtKB/Swiss-Prot
	Myf5	UniProtKB/Swiss-Prot
PharmGKB	PA31363	PharmGKB
PROSITE	BHLH	UniProtKB/Swiss-Prot
SMART	BASIC	UniProtKB/Swiss-Prot
	HLH	UniProtKB/Swiss-Prot
Superfamily-SCOP	SSF47459	UniProtKB/Swiss-Prot
UniProt	MYF5_HUMAN	UniProtKB/Swiss-Prot, ENTREZGENE
	Q6ISR9	ENTREZGENE
UniProt Secondary	Q6ISR9	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)

Imported Disease Annotations - ClinVar

Imported Disease Annotations - OMIM

Imported Human Phenotype Annotations - HPO

Imported Human Phenotype Annotations - ClinVar

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Imported Disease Annotations - ClinVar

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