MESP1 (mesoderm posterior bHLH transcription factor 1)

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Gene: MESP1 (mesoderm posterior bHLH transcription factor 1) Homo sapiens

Analyze

Symbol:

MESP1

Name:

mesoderm posterior bHLH transcription factor 1

RGD ID:

1603631

HGNC Page

HGNC:29658

Description:

Enables DNA-binding transcription factor activity and transcription cis-regulatory region binding activity. Involved in several processes, including endothelial cell differentiation; heart development; and positive regulation of transcription by RNA polymerase II. Predicted to be part of chromatin. Predicted to be active in nucleus.

Type:

protein-coding

RefSeq Status:

VALIDATED

Previously known as:

bHLHc5; class C basic helix-loop-helix protein 5; mesoderm posterior 1 homolog; mesoderm posterior basic helix-loop-helix transcription factor 1; mesoderm posterior protein 1; MGC10676

RGD Orthologs

Mouse

Rat

Bonobo

Dog

Squirrel

Pig

Green Monkey

Alliance Genes

More Info

more info ...

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	15	89,732,446 - 89,751,249 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p13 Ensembl	15	89,749,875 - 89,751,249 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	15	90,293,106 - 90,294,480 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	15	88,094,110 - 88,095,552 (-)	NCBI	NCBI36		hg18	NCBI36
Celera	15	66,695,858 - 66,697,300 (-)	NCBI
Cytogenetic Map	15	q26.1	NCBI
HuRef	15	66,406,054 - 66,407,496 (-)	NCBI		HuRef
CHM1_1	15	90,133,926 - 90,135,368 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	15	87,505,752 - 87,507,126 (-)	NCBI

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

Bloom syndrome (IAGP)

colorectal cancer (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

17beta-estradiol (EXP)

2,2',4,4',5,5'-hexachlorobiphenyl (EXP)

2,2',4,4'-Tetrabromodiphenyl ether (EXP)

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

3-methylcholanthrene (EXP)

4,4'-sulfonyldiphenol (ISO)

5-fluorouracil (ISO)

6-propyl-2-thiouracil (ISO)

all-trans-retinoic acid (EXP,ISO)

aristolochic acid (EXP)

benzo[a]pyrene (EXP)

benzylpenicillin (ISO)

bisphenol A (EXP,ISO)

bisphenol F (ISO)

butanal (EXP)

cadmium atom (EXP)

carbamazepine (EXP)

carbon nanotube (ISO)

cefaloridine (ISO)

chlorpyrifos (ISO)

choline (ISO)

cisplatin (EXP)

dexamethasone (EXP)

dextran sulfate (ISO)

dorsomorphin (EXP)

folic acid (ISO)

L-methionine (ISO)

lead(0) (EXP)

lead(2+) (EXP)

leflunomide (EXP)

lithium chloride (ISO)

Monobutylphthalate (ISO)

ozone (ISO)

perfluorooctanoic acid (EXP)

phenylmercury acetate (EXP)

phenytoin (ISO)

resveratrol (EXP)

rotenone (EXP)

saccharin (ISO)

SB 431542 (EXP)

sodium arsenite (EXP)

temozolomide (EXP)

tetrachloroethene (ISO)

tetraphene (ISO)

thapsigargin (EXP)

tributylstannane (ISO)

trichloroethene (ISO)

valproic acid (EXP,ISO)

vorinostat (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

cardiac atrium formation (IMP)

cardiac cell fate determination (IEA,ISS)

cardiac muscle cell differentiation (IMP)

cardiac vascular smooth muscle cell differentiation (IMP)

cardiac ventricle formation (IMP)

cardioblast anterior-lateral migration (IEA,ISS)

cardioblast migration (IEA,ISO)

cardioblast migration to the midline involved in heart field formation (IEA,ISS)

embryonic heart tube morphogenesis (IEA,ISS)

endothelial cell differentiation (IMP)

gastrulation (IEA,ISS)

gene expression (IEA,ISO)

growth involved in heart morphogenesis (IEA,ISS)

heart looping (IEA,ISS)

heart morphogenesis (IBA,IEA,ISO)

lateral mesoderm development (IEA,ISS)

mesoderm formation (IBA)

mesodermal cell migration (IEA,ISO)

negative regulation of DNA-templated transcription (IEA,ISS)

negative regulation of endodermal cell fate specification (IEA,ISS)

negative regulation of mesodermal cell fate specification (IEA,ISS)

neurogenesis (IMP)

Notch signaling pathway (IEA)

positive regulation of DNA-templated transcription (IEA,ISS)

positive regulation of heart induction by negative regulation of canonical Wnt signaling pathway (IEA,ISS)

positive regulation of hepatocyte differentiation (IEA,ISS)

positive regulation of Notch signaling pathway (IEA,ISS)

positive regulation of Notch signaling pathway involved in heart induction (IEA)

positive regulation of striated muscle cell differentiation (IEA,ISS)

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

regulation of transcription by RNA polymerase II (IBA)

secondary heart field specification (IEA,ISS)

signal transduction involved in regulation of gene expression (IEA,ISO)

sinoatrial node cell differentiation (IMP)

sinus venosus morphogenesis (IEA,ISS)

somite rostral/caudal axis specification (IBA)

Cellular Component

chromatin (ISA)

nucleus (IBA,IC,IEA)

Molecular Function

cis-regulatory region sequence-specific DNA binding (IEA)

DNA binding (IEA)

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

DNA-binding transcription factor activity (IDA,IEA)

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

protein binding (IPI)

protein dimerization activity (IEA)

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

transcription cis-regulatory region binding (IDA)

References

References - curated

#	Reference Title	Reference Citation
1.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions

Additional References at PubMed

PMID:8787751	PMID:11578861	PMID:12477932	PMID:15342556	PMID:18297060	PMID:19274049	PMID:21873635	PMID:22826236	PMID:24056064	PMID:25187301	PMID:26694203	PMID:28677747
PMID:30389344	PMID:31761621	PMID:32814053

Genomics

Comparative Map Data

MESP1
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	15	89,732,446 - 89,751,249 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p13 Ensembl	15	89,749,875 - 89,751,249 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	15	90,293,106 - 90,294,480 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	15	88,094,110 - 88,095,552 (-)	NCBI	NCBI36		hg18	NCBI36
Celera	15	66,695,858 - 66,697,300 (-)	NCBI
Cytogenetic Map	15	q26.1	NCBI
HuRef	15	66,406,054 - 66,407,496 (-)	NCBI		HuRef
CHM1_1	15	90,133,926 - 90,135,368 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	15	87,505,752 - 87,507,126 (-)	NCBI

Mesp1
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	7	79,441,989 - 79,443,338 (-)	NCBI	GRCm39		mm39
GRCm39 Ensembl	7	79,441,989 - 79,443,536 (-)	Ensembl
GRCm38	7	79,792,241 - 79,793,590 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	7	79,792,241 - 79,793,788 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	7	86,937,127 - 86,938,476 (-)	NCBI	GRCm37		mm9	NCBIm37
MGSCv36	7	79,665,760 - 79,667,119 (-)	NCBI			mm8
Celera	7	77,191,445 - 77,192,794 (-)	NCBI		Celera
Cytogenetic Map	7	D2	NCBI
cM Map	7	45.16	NCBI

Mesp1
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
mRatBN7.2	1	133,738,357 - 133,739,875 (-)	NCBI	mRatBN7.2
mRatBN7.2 Ensembl	1	133,738,357 - 133,739,875 (-)	Ensembl
Rnor_6.0	1	141,532,390 - 141,533,908 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	1	141,532,390 - 141,533,908 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	1	142,493,452 - 142,494,970 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	1	135,571,777 - 135,573,295 (-)	NCBI	RGSC3.4		rn4	RGSC3.4
RGSC_v3.1	1	135,650,456 - 135,651,437 (-)	NCBI
Celera	1	125,801,663 - 125,803,181 (-)	NCBI		Celera
Cytogenetic Map	1	q31	NCBI

MESP1
(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	15	87,645,768 - 87,647,210 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	15	87,645,768 - 87,647,210 (-)	Ensembl	panpan1.1		panPan2
Mhudiblu_PPA_v0	15	68,440,626 - 68,441,935 (-)	NCBI	Mhudiblu_PPA_v0		panPan3

MESP1
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	3	52,738,333 - 52,739,962 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	3	52,738,366 - 52,739,755 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	3	55,372,284 - 55,373,854 (-)	NCBI
ROS_Cfam_1.0	3	53,155,122 - 53,156,692 (-)	NCBI
ROS_Cfam_1.0 Ensembl	3	53,155,145 - 53,156,534 (-)	Ensembl
UMICH_Zoey_3.1	3	52,676,925 - 52,678,493 (-)	NCBI
UNSW_CanFamBas_1.0	3	52,886,866 - 52,888,431 (-)	NCBI
UU_Cfam_GSD_1.0	3	53,227,220 - 53,228,790 (-)	NCBI

Mesp1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	NW_024408640	130,799,944 - 130,801,262 (+)	NCBI
SpeTri2.0	NW_004936483	15,533,264 - 15,534,576 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

MESP1
(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	55,322,274 - 55,323,539 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	7	55,322,016 - 55,327,600 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	7	60,211,078 - 60,218,711 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

MESP1
(Chlorocebus sabaeus - green monkey)

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	29	8,286,551 - 8,288,777 (-)	NCBI	ChlSab1.1		chlSab2
ChlSab1.1 Ensembl	29	8,286,828 - 8,287,918 (-)	Ensembl	ChlSab1.1		chlSab2
Vero_WHO_p1.0	NW_023666059	38,523,729 - 38,525,347 (+)	NCBI	Vero_WHO_p1.0

Position Markers

RH11209

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	15	90,291,952 - 90,292,077	UniSTS	GRCh37
Build 36	15	88,092,956 - 88,093,081	RGD	NCBI36
Celera	15	66,694,712 - 66,694,837	RGD
Cytogenetic Map	15	q26.1	UniSTS
HuRef	15	66,404,908 - 66,405,033	UniSTS
GeneMap99-GB4 RH Map	15	320.51	UniSTS
NCBI RH Map	15	692.0	UniSTS

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	937
Count of miRNA genes:	585
Interacting mature miRNAs:	650
Transcripts:	ENST00000300057, ENST00000559894
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.

Expression

RNA-SEQ Expression

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

alimentary part of gastrointestinal system

circulatory system

endocrine system

exocrine system

hemolymphoid system

hepatobiliary system

integumental system

musculoskeletal system

nervous system

renal system

reproductive system

respiratory system

sensory system

adipose tissue

appendage

entire extraembryonic component

High

Medium

131

274

236

224

Low

2136

1194

1535

485

693

334

2817

1974

3328

324

951

1175

159

964

1803

Below cutoff

270

1650

175

123

1065

119

1346

190

105

252

374

912

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_018670	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XR_001751350	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XR_001751351	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XR_001751352	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XR_001751353	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XR_001751354	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XR_007064473	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AC079075	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL357533	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL357534	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL357535	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL357570	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL357571	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC006219	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BP212916	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471101	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068263	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KT585238	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Reference Sequences

RefSeq Acc Id:

ENST00000300057 ⟹ ENSP00000300057

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	15	89,749,875 - 89,751,249 (-)	Ensembl

RefSeq Acc Id:

ENST00000559894

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	15	89,749,891 - 89,751,137 (-)	Ensembl

RefSeq Acc Id:

NM_018670 ⟹ NP_061140

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	15	89,749,875 - 89,751,249 (-)	NCBI
GRCh37	15	90,293,098 - 90,294,540 (-)	RGD
Build 36	15	88,094,110 - 88,095,552 (-)	NCBI Archive
Celera	15	66,695,858 - 66,697,300 (-)	RGD
HuRef	15	66,406,054 - 66,407,496 (-)	RGD
CHM1_1	15	90,133,926 - 90,135,368 (-)	NCBI
T2T-CHM13v2.0	15	87,505,752 - 87,507,126 (-)	NCBI

Sequence:

show sequence

AGACGCGCCGCCGCTGCCATGGCCCAGCCCCTGTGCCCGCCGCTCTCCGAGTCCTGGATGCTCT
CTGCGGCCTGGGGCCCAACTCGGCGGCCGCCGCCCTCCGACAAGGACTGCGGCCGCTCCCTCGT
CTCGTCCCCAGACTCATGGGGCAGCACCCCAGCCGACAGCCCCGTGGCGAGCCCCGCGCGGCCA
GGCACCCTCCGGGACCCCCGCGCCCCCTCCGTAGGTAGGCGCGGCGCGCGCAGCAGCCGCCTGG
GCAGCGGGCAGAGGCAGAGCGCCAGTGAGCGGGAGAAACTGCGCATGCGCACGCTGGCCCGCGC
CCTGCACGAGCTGCGCCGCTTTCTACCGCCGTCCGTGGCGCCCGCGGGCCAGAGCCTGACCAAG
ATCGAGACGCTGCGCCTGGCTATCCGCTATATCGGCCACCTGTCGGCCGTGCTAGGCCTCAGCG
AGGAGAGTCTCCAGCGCCGGTGCCGGCAGCGCGGTGACGCGGGGTCCCCTCGGGGCTGCCCGCT
GTGCCCCGACGACTGCCCCGCGCAGATGCAGACACGGACGCAGGCTGAGGGGCAGGGGCAGGGG
CGCGGGCTGGGCCTGGTATCCGCCGTCCGCGCCGGGGCGTCCTGGGGATCCCCGCCTGCCTGCC
CCGGAGCCCGAGCTGCACCCGAGCCGCGCGACCCGCCTGCGCTGTTCGCCGAGGCGGCGTGCCC
TGAAGGGCAGGCGATGGAGCCAAGCCCACCGTCCCCGCTCCTTCCGGGCGACGTGCTGGCTCTG
TTGGAGACCTGGATGCCCCTCTCGCCTCTGGAGTGGCTGCCTGAGGAGCCCAAGTGACAAGGGA
CAACTGACGCCGTCTCTGTGAGCACCGAGGCTTTTTGGCCTCAGCACCTTCGAAGTGGTTCCTT
GGCAGACTGCCTTTCCTGGAAGAGGGCACGGGCGATCCCGACGGGGGCATTCCTGCGGGTGAGA
GCCGTCCCCACCGCGGCGGCCCTTCTCAGCCCCTCCCTCCATGGAGGGACCCATAGGGCTAGAC
ACTTTGAGGCAAGCAGGAGGCTCTGCCTAATGTGAATTTATTTATTTGTGAATAAACTGTACTG
GTGTCA

hide sequence

RefSeq Acc Id:

XR_001751350

RefSeq Status:

Type:

NON-CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	15	89,743,374 - 89,751,249 (-)	NCBI

Sequence:

show sequence

ATGGCCCAGCCCCTGTGCCCGCCGCTCTCCGAGTCCTGGATGCTCTCTGCGGCCTGGGGCCCAA
CTCGGCGGCCGCCGCCCTCCGACAAGGACTGCGGCCGCTCCCTCGTCTCGTCCCCAGACTCATG
GGGCAGCACCCCAGCCGACAGCCCCGTGGCGAGCCCCGCGCGGCCAGGCACCCTCCGGGACCCC
CGCGCCCCCTCCGTAGGTAGGCGCGGCGCGCGCAGCAGCCGCCTGGGCAGCGGGCAGAGGCAGA
GCGCCAGTGAGCGGGAGAAACTGCGCATGCGCACGCTGGCCCGCGCCCTGCACGAGCTGCGCCG
CTTTCTACCGCCGTCCGTGGCGCCCGCGGGCCAGAGCCTGACCAAGATCGAGACGCTGCGCCTG
GCTATCCGCTATATCGGCCACCTGTCGGCCGTGCTAGGCCTCAGCGAGGAGAGTCTCCAGCGCC
GGTGCCGGCAGCGCGGTGACGCGGGGTCCCCTCGGGGCTGCCCGCTGTGCCCCGACGACTGCCC
CGCGCAGATGCAGACACGGACGCAGGCTGAGGGGCAGGGGCAGGGGCGCGGGCTGGGCCTGGTA
TCCGCCGTCCGCGCCGGGGCGTCCTGGGGATCCCCGCCTGCCTGCCCCGGAGCCCGAGCTGCAC
CCGAGCCGCGCGACCCGCCTGCGCTGTTCGCCGAGGCGGCGTGCCCTGAAGGGCAGGCGATGGA
GCCAAGCCCACCGTCCCCGCTCCTTCCGGGCGACGTGCTGGCTCTGTTGGAGACCTGGATGCCC
CTCTCGCCTCTGGAGTGGCTGCCTGAGGAGCCCAAGTGACAAGGGACAACTGACGCCGTCTCTG
TGAGCACCGAGGCTTTTTGGCCTCAGCACCTTCGAAGTGGTTCCTTGGCAGACTGCCTTTCCTG
GAAGAGGGCACGGGCGATCCCGACGGGGGCATTCCTGCGGGCAGAAGCTGACGCACAGGGAACT
CGAGGAACTTTCCATAAGGCTAGTGTGCAGCCCCTGGGGACGGGCCAACTGTGGGCTGGTGGTT
GGTGAAGCCTGTCTTTGCAAGAGCCCTGGCAGCAAGGTGGTGTGTAAGCCAAGACCATCTTCCT
AAGTTCTCCTTCCTCGTCTCCAGAGAGCTGCCAGAGCACCTGCTGTGTAGAGGGAATTACTGCC
AACAGTGTCCTGGGAGCAGCTGCCTCGTGGCTGAAACCTCCTTTTCAGAGATCCCAGGGCGGTG
GCAGCCTCACTTCTTGAAGTTCTC

hide sequence

RefSeq Acc Id:

XR_001751351

RefSeq Status:

Type:

NON-CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	15	89,743,374 - 89,751,249 (-)	NCBI

Sequence:

show sequence

ATGGCCCAGCCCCTGTGCCCGCCGCTCTCCGAGTCCTGGATGCTCTCTGCGGCCTGGGGCCCAA
CTCGGCGGCCGCCGCCCTCCGACAAGGACTGCGGCCGCTCCCTCGTCTCGTCCCCAGACTCATG
GGGCAGCACCCCAGCCGACAGCCCCGTGGCGAGCCCCGCGCGGCCAGGCACCCTCCGGGACCCC
CGCGCCCCCTCCGTAGGTAGGCGCGGCGCGCGCAGCAGCCGCCTGGGCAGCGGGCAGAGGCAGA
GCGCCAGTGAGCGGGAGAAACTGCGCATGCGCACGCTGGCCCGCGCCCTGCACGAGCTGCGCCG
CTTTCTACCGCCGTCCGTGGCGCCCGCGGGCCAGAGCCTGACCAAGATCGAGACGCTGCGCCTG
GCTATCCGCTATATCGGCCACCTGTCGGCCGTGCTAGGCCTCAGCGAGGAGAGTCTCCAGCGCC
GGTGCCGGCAGCGCGGTGACGCGGGGTCCCCTCGGGGCTGCCCGCTGTGCCCCGACGACTGCCC
CGCGCAGATGCAGACACGGACGCAGGCTGAGGGGCAGGGGCAGGGGCGCGGGCTGGGCCTGGTA
TCCGCCGTCCGCGCCGGGGCGTCCTGGGGATCCCCGCCTGCCTGCCCCGGAGCCCGAGCTGCAC
CCGAGCCGCGCGACCCGCCTGCGCTGTTCGCCGAGGCGGCGTGCCCTGAAGGGCAGGCGATGGA
GCCAAGCCCACCGTCCCCGCTCCTTCCGGGCGACGTGCTGGCTCTGTTGGAGACCTGGATGCCC
CTCTCGCCTCTGGAGTGGCTGCCTGAGGAGCCCAAGTGACAAGGGACAACTGACGCCGTCTCTG
TGAGCACCGAGGCTTTTTGGCCTCAGCACCTTCGAAGTGGTTCCTTGGCAGACTGCCTTTCCTG
GAAGAGGGCACGGGCGATCCCGACGGGGGCATTCCTGCGGGTACCTATTATACTCAAGTAACCA
TTTTACAGAAGGATGAGGATCAGCGCTCAAGCCCAGGCAGAAGCTGACGCACAGGGAACTCGAG
GAACTTTCCATAAGGCTAGTGTGCAGCCCCTGGGGACGGGCCAACTGTGGGCTGGTGGTTGGTG
AAGCCTGTCTTTGCAAGAGCCCTGGCAGCAAGGTGGTGTGTAAGCCAAGACCATCTTCCTAAGT
TCTCCTTCCTCGTCTCCAGAGAGCTGCCAGAGCACCTGCTGTGTAGAGGGAATTACTGCCAACA
GTGTCCTGGGAGCAGCTGCCTCGTGGCTGAAACCTCCTTTTCAGAGATCCCAGGGCGGTGGCAG
CCTCACTTCTTGAAGTTCTC

hide sequence

RefSeq Acc Id:

XR_001751352

RefSeq Status:

Type:

NON-CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	15	89,734,780 - 89,751,249 (-)	NCBI

Sequence:

show sequence

ATGGCCCAGCCCCTGTGCCCGCCGCTCTCCGAGTCCTGGATGCTCTCTGCGGCCTGGGGCCCAA
CTCGGCGGCCGCCGCCCTCCGACAAGGACTGCGGCCGCTCCCTCGTCTCGTCCCCAGACTCATG
GGGCAGCACCCCAGCCGACAGCCCCGTGGCGAGCCCCGCGCGGCCAGGCACCCTCCGGGACCCC
CGCGCCCCCTCCGTAGGTAGGCGCGGCGCGCGCAGCAGCCGCCTGGGCAGCGGGCAGAGGCAGA
GCGCCAGTGAGCGGGAGAAACTGCGCATGCGCACGCTGGCCCGCGCCCTGCACGAGCTGCGCCG
CTTTCTACCGCCGTCCGTGGCGCCCGCGGGCCAGAGCCTGACCAAGATCGAGACGCTGCGCCTG
GCTATCCGCTATATCGGCCACCTGTCGGCCGTGCTAGGCCTCAGCGAGGAGAGTCTCCAGCGCC
GGTGCCGGCAGCGCGGTGACGCGGGGTCCCCTCGGGGCTGCCCGCTGTGCCCCGACGACTGCCC
CGCGCAGATGCAGACACGGACGCAGGCTGAGGGGCAGGGGCAGGGGCGCGGGCTGGGCCTGGTA
TCCGCCGTCCGCGCCGGGGCGTCCTGGGGATCCCCGCCTGCCTGCCCCGGAGCCCGAGCTGCAC
CCGAGCCGCGCGACCCGCCTGCGCTGTTCGCCGAGGCGGCGTGCCCTGAAGGGCAGGCGATGGA
GCCAAGCCCACCGTCCCCGCTCCTTCCGGGCGACGTGCTGGCTCTGTTGGAGACCTGGATGCCC
CTCTCGCCTCTGGAGTGGCTGCCTGAGGAGCCCAAGTGACAAGGGACAACTGACGCCGTCTCTG
TGAGCACCGAGGCTTTTTGGCCTCAGCACCTTCGAAGTGGTTCCTTGGCAGACTGCCTTTCCTG
GAAGAGGGCACGGGCGATCCCGACGGGGGCATTCCTGCGGGCAGAAGCTGACGCACAGGGAACT
CGAGGAACTTTCCATAAGGCTAGTGTGCAGCCCCTGGGGACGGGCCAACTGTGGGCTGGTGGTT
GGTGAAGCCTGTCTTTGCAAGAGCCCTGGCAGCAAGGTGGTGTGTAAGCCAAGACCATCTTCCT
AAGTTCTCCTTCCTCGTCTCCAGAGAGCTGCCAGAGCACCTGCTGTGTAGAGGGAATTACTGCC
AACAGAGAAGGGGTCTCACTATGTTACCCAGGCTGGTCTTGAA

hide sequence

RefSeq Acc Id:

XR_001751354

RefSeq Status:

Type:

NON-CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	15	89,748,663 - 89,751,249 (-)	NCBI

Sequence:

show sequence

ATGGCCCAGCCCCTGTGCCCGCCGCTCTCCGAGTCCTGGATGCTCTCTGCGGCCTGGGGCCCAA
CTCGGCGGCCGCCGCCCTCCGACAAGGACTGCGGCCGCTCCCTCGTCTCGTCCCCAGACTCATG
GGGCAGCACCCCAGCCGACAGCCCCGTGGCGAGCCCCGCGCGGCCAGGCACCCTCCGGGACCCC
CGCGCCCCCTCCGTAGGTAGGCGCGGCGCGCGCAGCAGCCGCCTGGGCAGCGGGCAGAGGCAGA
GCGCCAGTGAGCGGGAGAAACTGCGCATGCGCACGCTGGCCCGCGCCCTGCACGAGCTGCGCCG
CTTTCTACCGCCGTCCGTGGCGCCCGCGGGCCAGAGCCTGACCAAGATCGAGACGCTGCGCCTG
GCTATCCGCTATATCGGCCACCTGTCGGCCGTGCTAGGCCTCAGCGAGGAGAGTCTCCAGCGCC
GGTGCCGGCAGCGCGGTGACGCGGGGTCCCCTCGGGGCTGCCCGCTGTGCCCCGACGACTGCCC
CGCGCAGATGCAGACACGGACGCAGGCTGAGGGGCAGGGGCAGGGGCGCGGGCTGGGCCTGGTA
TCCGCCGTCCGCGCCGGGGCGTCCTGGGGATCCCCGCCTGCCTGCCCCGGAGCCCGAGCTGCAC
CCGAGCCGCGCGACCCGCCTGCGCTGTTCGCCGAGGCGGCGTGCCCTGAAGGGCAGGCGATGGA
GCCAAGCCCACCGTCCCCGCTCCTTCCGGGCGACGTGCTGGCTCTGTTGGAGACCTGGATGCCC
CTCTCGCCTCTGGAGTGGCTGCCTGAGGAGCCCAAGTGACAAGGGACAACTGACGCCGTCTCTG
TGAGCACCGAGGCTTTTTGGCCTCAGCACCTTCGAAGTGGTTCCTTGGCAGACTGCCTTTCCTG
GAAGAGGGCACGGGCGATCCCGACGGGGGCATTCCTGCGGGTACCTATTATACTCAAGTAACCA
TTTTACAGAAGGATGAGGATCAGCGCTCAAGCCCAGGTAGGCCTCCAGAGTCCCAGCGCTCAGC
TCTTGTGGGATTTTGCCAGCTCCATACATGTTGGGGCCTGAGGGATAACAGCTCCAAGGGGTTA
TTTTCTTGCATCCTGTGGTCTTATTCTCCATGCACGGGAGCATCCTGGCCTTGGAACTCCCCCA
CCCTCCGCCGGCATTTTCCCATCTGCCTTTTCTCTGGTTTCCCCACCTTGTGGCTTAGAGACAT
AAATAATGGTGTGGCGGTCCTGAGTTTATATAACCATGACCTCCTACAGGCCTAGATGGGGTGA
GATGAGGGGCCCATGGGGTTGCATCGGAATCCACACAGGCAGTTGCGTGCCTGTCTGCATTGGC
TGGATTCACATCAGGGAGCAAGAAACGGGAGGCTTGAGCCCAGAAAGTGTGTCCTCATCCAGCC
AGGGTGTCTGGGCAACAGTCATGATTAGAGGGTGCGGTGGGGAGAAGGGATGTGTAGCCTCTCT
GCCAAGCGTCCTTTACCCTCTATGGATAGATACCCAGTTCTCCCCTCCTCTCCTTCAAGTGTCT
GAAACACAGGCTTCAGTGTCTGTTTTTATAAGAGCTTTATTAGGATACAATTCACATACCATAA
AATTCACTCTTTTAACAACTGAATGGCTTTAGTACATCCACAGAGTTGTGCAAGCATTGCCACT
AATTTTAGAACGTTTTCACCCCCCAAAAGAAACCGTATACCTGTTAACATCACTCCTCACTATT
CCCTACTCCCAGTCCCTGGCACTCACTCTTCTAGTCTCTGTCTCTATAGGTTTGCTTTTTCAGG
ACATTTCATATAAAAGGAATCGCAAAATACG

hide sequence

RefSeq Acc Id:

XR_007064473

RefSeq Status:

Type:

NON-CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	15	89,732,446 - 89,751,249 (-)	NCBI

Protein Sequences


Protein RefSeqs	NP_061140	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAH06219	(Get FASTA)	NCBI Sequence Viewer
	CAB93425	(Get FASTA)	NCBI Sequence Viewer
	CAB93426	(Get FASTA)	NCBI Sequence Viewer
	CAB93427	(Get FASTA)	NCBI Sequence Viewer
	EAX02066	(Get FASTA)	NCBI Sequence Viewer
	Q9BRJ9	(Get FASTA)	NCBI Sequence Viewer

Reference Sequences

RefSeq Acc Id:

NP_061140 ⟸ NM_018670

- UniProtKB:

Q9NSF2 (UniProtKB/Swiss-Prot), Q9BRJ9 (UniProtKB/Swiss-Prot)

- Sequence:

show sequence

MAQPLCPPLSESWMLSAAWGPTRRPPPSDKDCGRSLVSSPDSWGSTPADSPVASPARPGTLRDP
RAPSVGRRGARSSRLGSGQRQSASEREKLRMRTLARALHELRRFLPPSVAPAGQSLTKIETLRL
AIRYIGHLSAVLGLSEESLQRRCRQRGDAGSPRGCPLCPDDCPAQMQTRTQAEGQGQGRGLGLV
SAVRAGASWGSPPACPGARAAPEPRDPPALFAEAACPEGQAMEPSPPSPLLPGDVLALLETWMP
LSPLEWLPEEPK

hide sequence

RefSeq Acc Id:

ENSP00000300057 ⟸ ENST00000300057

Protein Domains

bHLH

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q9BRJ9-F1-model_v2	AlphaFold	Q9BRJ9	1-268	view protein structure

Promoters

RGD ID:

6792448

Promoter ID:

HG_KWN:22309

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

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

Transcripts:

OTTHUMT00000313421

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	15	88,094,936 - 88,095,436 (-)	MPROMDB

RGD ID:

7230483

Promoter ID:

EPDNEW_H20987

Type:

initiation region

Name:

MESP1_1

Description:

mesoderm posterior bHLH transcription factor 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	15	89,751,249 - 89,751,309	EPDNEW

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 15q26.1-26.3(chr15:89679237-101978958)x3	copy number gain	See cases [RCV000052354]	Chr15:89679237..101978958 [GRCh38] Chr15:90222468..102519161 [GRCh37] Chr15:88023472..100336684 [NCBI36] Chr15:15q26.1-26.3	pathogenic
GRCh38/hg38 15q24.2-26.3(chr15:75307767-101723215)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052346]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052346]\|See cases [RCV000052346]	Chr15:75307767..101723215 [GRCh38] Chr15:75600108..102263418 [GRCh37] Chr15:73387161..100080941 [NCBI36] Chr15:15q24.2-26.3	pathogenic
GRCh38/hg38 15q24.3-26.3(chr15:77543797-101843411)x3	copy number gain	See cases [RCV000052347]	Chr15:77543797..101843411 [GRCh38] Chr15:77836139..102383614 [GRCh37] Chr15:75623194..100201137 [NCBI36] Chr15:15q24.3-26.3	pathogenic
GRCh38/hg38 15q25.2-26.3(chr15:84169153-101904929)x3	copy number gain	See cases [RCV000052352]	Chr15:84169153..101904929 [GRCh38] Chr15:84837905..102445132 [GRCh37] Chr15:82628909..100262655 [NCBI36] Chr15:15q25.2-26.3	pathogenic
GRCh38/hg38 15q25.2-26.3(chr15:83711377-101843270)x3	copy number gain	See cases [RCV000135858]	Chr15:83711377..101843270 [GRCh38] Chr15:84380129..102383473 [GRCh37] Chr15:82171133..100200996 [NCBI36] Chr15:15q25.2-26.3	pathogenic
GRCh38/hg38 15q25.3-26.3(chr15:87904735-101843270)x3	copy number gain	See cases [RCV000135568]	Chr15:87904735..101843270 [GRCh38] Chr15:88447966..102383473 [GRCh37] Chr15:86248970..100200996 [NCBI36] Chr15:15q25.3-26.3	pathogenic
GRCh38/hg38 15q25.2-26.3(chr15:82859676-101810992)x3	copy number gain	See cases [RCV000136849]	Chr15:82859676..101810992 [GRCh38] Chr15:83528428..102351195 [GRCh37] Chr15:81325482..100168718 [NCBI36] Chr15:15q25.2-26.3	pathogenic
GRCh38/hg38 15q25.3-26.3(chr15:85826665-101920998)x4	copy number gain	See cases [RCV000137264]	Chr15:85826665..101920998 [GRCh38] Chr15:86369896..102461201 [GRCh37] Chr15:84170900..100278724 [NCBI36] Chr15:15q25.3-26.3	pathogenic
GRCh38/hg38 15q25.3-26.3(chr15:85397539-101888909)x3	copy number gain	See cases [RCV000141899]	Chr15:85397539..101888909 [GRCh38] Chr15:85940770..102429112 [GRCh37] Chr15:83741774..100246635 [NCBI36] Chr15:15q25.3-26.3	pathogenic
GRCh38/hg38 15q26.1(chr15:89738724-89788051)x1	copy number loss	See cases [RCV000142209]	Chr15:89738724..89788051 [GRCh38] Chr15:90281955..90331282 [GRCh37] Chr15:88082959..88132286 [NCBI36] Chr15:15q26.1	uncertain significance
GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	copy number gain	See cases [RCV000142915]	Chr15:59828460..101920998 [GRCh38] Chr15:60120659..102461201 [GRCh37] Chr15:57907951..100278724 [NCBI36] Chr15:15q22.2-26.3	pathogenic
GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3	copy number gain	See cases [RCV000143019]	Chr15:72154949..101920998 [GRCh38] Chr15:72447290..102461201 [GRCh37] Chr15:70234344..100278724 [NCBI36] Chr15:15q23-26.3	pathogenic
GRCh38/hg38 15q26.1-26.3(chr15:88676575-98364743)x3	copy number gain	See cases [RCV000142727]	Chr15:88676575..98364743 [GRCh38] Chr15:89219806..98907972 [GRCh37] Chr15:87020810..96725495 [NCBI36] Chr15:15q26.1-26.3	pathogenic
GRCh37/hg19 15q24.2-26.3(chr15:76061144-102429112)x3	copy number gain	See cases [RCV000511332]	Chr15:76061144..102429112 [GRCh37] Chr15:15q24.2-26.3	pathogenic
GRCh37/hg19 15q22.31-26.3(chr15:64637227-102509910)x3	copy number gain	See cases [RCV000240602]	Chr15:64637227..102509910 [GRCh37] Chr15:15q22.31-26.3	pathogenic
GRCh37/hg19 15q22.1-26.3(chr15:59297293-102480888)x3	copy number gain	not provided [RCV000415836]	Chr15:59297293..102480888 [GRCh37] Chr15:15q22.1-26.3	likely pathogenic
GRCh37/hg19 15q25.2-26.3(chr15:85089467-102495441)x3	copy number gain	See cases [RCV000449119]	Chr15:85089467..102495441 [GRCh37] Chr15:15q25.2-26.3	pathogenic
GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4	copy number gain	See cases [RCV000447123]	Chr15:41745084..102354798 [GRCh37] Chr15:15q15.1-26.3	pathogenic
GRCh37/hg19 15q26.1-26.3(chr15:89924847-102429112)x3	copy number gain	See cases [RCV000445978]	Chr15:89924847..102429112 [GRCh37] Chr15:15q26.1-26.3	pathogenic
GRCh37/hg19 15q25.1-26.3(chr15:80648093-102429112)x3	copy number gain	See cases [RCV000445705]	Chr15:80648093..102429112 [GRCh37] Chr15:15q25.1-26.3	pathogenic
GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	copy number gain	See cases [RCV000447765]	Chr15:20733395..102511616 [GRCh37] Chr15:15q11.2-26.3	pathogenic
GRCh37/hg19 15q25.3-26.3(chr15:86148286-102511616)x3	copy number gain	See cases [RCV000448044]	Chr15:86148286..102511616 [GRCh37] Chr15:15q25.3-26.3	pathogenic
GRCh37/hg19 15q25.3-26.1(chr15:88295992-94215607)x1	copy number loss	See cases [RCV000448680]	Chr15:88295992..94215607 [GRCh37] Chr15:15q25.3-26.1	pathogenic
GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3	copy number gain	See cases [RCV000510717]	Chr15:22770422..102429112 [GRCh37] Chr15:15q11.2-26.3	pathogenic
GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)	copy number gain	See cases [RCV000512019]	Chr15:22770422..102429112 [GRCh37] Chr15:15q11.2-26.3	pathogenic
GRCh37/hg19 15q25.3-26.3(chr15:86899001-98734014)x3	copy number gain	See cases [RCV000511629]	Chr15:86899001..98734014 [GRCh37] Chr15:15q25.3-26.3	likely pathogenic
Single allele	duplication	not provided [RCV000677926]	Chr15:31115047..102354857 [GRCh37] Chr15:15q13.2-26.3	pathogenic
GRCh37/hg19 15q23-26.3(chr15:71329220-102270758)x3	copy number gain	not provided [RCV000683703]	Chr15:71329220..102270758 [GRCh37] Chr15:15q23-26.3	pathogenic
GRCh37/hg19 15q26.1-26.3(chr15:89743929-102429112)x3	copy number gain	not provided [RCV000683718]	Chr15:89743929..102429112 [GRCh37] Chr15:15q26.1-26.3	pathogenic
GRCh37/hg19 15q24.3-26.3(chr15:77479244-102429112)x3	copy number gain	not provided [RCV000683710]	Chr15:77479244..102429112 [GRCh37] Chr15:15q24.3-26.3	pathogenic
GRCh37/hg19 15q25.3-26.3(chr15:88385150-102461162)x3	copy number gain	not provided [RCV000738864]	Chr15:88385150..102461162 [GRCh37] Chr15:15q25.3-26.3	pathogenic
GRCh37/hg19 15q26.1-26.3(chr15:90277151-102376761)x3	copy number gain	not provided [RCV000751387]	Chr15:90277151..102376761 [GRCh37] Chr15:15q26.1-26.3	pathogenic
GRCh37/hg19 15q11.1-26.3(chr15:20016811-102493540)x3	copy number gain	not provided [RCV000751155]	Chr15:20016811..102493540 [GRCh37] Chr15:15q11.1-26.3	pathogenic
GRCh37/hg19 15q11.1-26.3(chr15:20071673-102461162)x3	copy number gain	not provided [RCV000751156]	Chr15:20071673..102461162 [GRCh37] Chr15:15q11.1-26.3	pathogenic
GRCh37/hg19 15q25.2-26.1(chr15:83883823-92165844)	copy number loss	not provided [RCV000767759]	Chr15:83883823..92165844 [GRCh37] Chr15:15q25.2-26.1	pathogenic
GRCh37/hg19 15q26.1-26.3(chr15:90288175-102429112)x3	copy number gain	not provided [RCV000846885]	Chr15:90288175..102429112 [GRCh37] Chr15:15q26.1-26.3	pathogenic
NM_018670.4(MESP1):c.308A>C (p.His103Pro)	single nucleotide variant	not provided [RCV002001546]	Chr15:89750924 [GRCh38] Chr15:90294155 [GRCh37] Chr15:15q26.1	uncertain significance
GRCh37/hg19 15q25.3-26.3(chr15:87189245-102429112)x1	copy number loss	not provided [RCV001006718]	Chr15:87189245..102429112 [GRCh37] Chr15:15q25.3-26.3	pathogenic
GRCh37/hg19 15q26.1(chr15:90111672-90671886)x3	copy number gain	not provided [RCV001006720]	Chr15:90111672..90671886 [GRCh37] Chr15:15q26.1	uncertain significance
NM_018670.4(MESP1):c.158dup (p.Ser54fs)	duplication	not provided [RCV001574050]	Chr15:89751073..89751074 [GRCh38] Chr15:90294304..90294305 [GRCh37] Chr15:15q26.1	likely benign
GRCh37/hg19 15q25.3-26.3(chr15:86962053-102531392)x1	copy number loss	See cases [RCV001263026]	Chr15:86962053..102531392 [GRCh37] Chr15:15q25.3-26.3	pathogenic
NC_000015.9:g.(?_32964879)_(91358519_?)dup	duplication	Bloom syndrome [RCV001343104]\|Familial colorectal cancer [RCV001325176]	Chr15:32964879..91358519 [GRCh37] Chr15:15q13.3-26.1	uncertain significance
NM_018670.4(MESP1):c.155_156insCCGAGCCCCGT (p.Ala53fs)	insertion	not specified [RCV001529475]	Chr15:89751076..89751077 [GRCh38] Chr15:90294307..90294308 [GRCh37] Chr15:15q26.1	benign
GRCh37/hg19 15q25.3-26.2(chr15:88465861-94411846)x1	copy number loss	not provided [RCV001795547]	Chr15:88465861..94411846 [GRCh37] Chr15:15q25.3-26.2	pathogenic
GRCh37/hg19 15q26.1(chr15:89520451-93926491)x1	copy number loss	not provided [RCV001827973]	Chr15:89520451..93926491 [GRCh37] Chr15:15q26.1	pathogenic
NM_018670.4(MESP1):c.568G>T (p.Gly190Cys)	single nucleotide variant	not provided [RCV001931199]	Chr15:89750664 [GRCh38] Chr15:90293895 [GRCh37] Chr15:15q26.1	uncertain significance
NM_018670.4(MESP1):c.244G>C (p.Gly82Arg)	single nucleotide variant	not provided [RCV001886873]	Chr15:89750988 [GRCh38] Chr15:90294219 [GRCh37] Chr15:15q26.1	uncertain significance
NM_018670.4(MESP1):c.209G>A (p.Gly70Asp)	single nucleotide variant	not provided [RCV001917105]	Chr15:89751023 [GRCh38] Chr15:90294254 [GRCh37] Chr15:15q26.1	uncertain significance
NM_018670.4(MESP1):c.271del (p.Glu91fs)	deletion	not provided [RCV001907345]	Chr15:89750961 [GRCh38] Chr15:90294192 [GRCh37] Chr15:15q26.1	uncertain significance
NC_000015.9:g.(?_89859982)_(90294462_?)dup	duplication	not provided [RCV001980109]	Chr15:89859982..90294462 [GRCh37] Chr15:15q26.1	uncertain significance
NM_018670.4(MESP1):c.97G>A (p.Gly33Ser)	single nucleotide variant	not provided [RCV002015771]	Chr15:89751135 [GRCh38] Chr15:90294366 [GRCh37] Chr15:15q26.1	uncertain significance
NM_018670.4(MESP1):c.520A>G (p.Met174Val)	single nucleotide variant	not provided [RCV002092785]	Chr15:89750712 [GRCh38] Chr15:90293943 [GRCh37] Chr15:15q26.1	benign
NM_018670.4(MESP1):c.687T>G (p.Pro229=)	single nucleotide variant	not provided [RCV002124934]	Chr15:89750545 [GRCh38] Chr15:90293776 [GRCh37] Chr15:15q26.1	benign
NM_018670.4(MESP1):c.726C>G (p.Leu242=)	single nucleotide variant	not provided [RCV002204910]	Chr15:89750225 [GRCh38] Chr15:90293456 [GRCh37] Chr15:15q26.1	likely benign
NM_018670.4(MESP1):c.345C>T (p.Pro115=)	single nucleotide variant	not provided [RCV002169551]	Chr15:89750887 [GRCh38] Chr15:90294118 [GRCh37] Chr15:15q26.1	benign
NM_018670.4(MESP1):c.45C>T (p.Leu15=)	single nucleotide variant	not provided [RCV002168819]	Chr15:89751187 [GRCh38] Chr15:90294418 [GRCh37] Chr15:15q26.1	benign
NM_018670.4(MESP1):c.453C>G (p.Cys151Trp)	single nucleotide variant	not provided [RCV002080696]	Chr15:89750779 [GRCh38] Chr15:90294010 [GRCh37] Chr15:15q26.1	benign
NM_018670.4(MESP1):c.650G>A (p.Arg217His)	single nucleotide variant	not provided [RCV002132409]	Chr15:89750582 [GRCh38] Chr15:90293813 [GRCh37] Chr15:15q26.1	benign
NM_018670.4(MESP1):c.147C>T (p.Asp49=)	single nucleotide variant	not provided [RCV002076753]	Chr15:89751085 [GRCh38] Chr15:90294316 [GRCh37] Chr15:15q26.1	benign
NM_018670.4(MESP1):c.234C>T (p.Arg78=)	single nucleotide variant	not provided [RCV002213091]	Chr15:89750998 [GRCh38] Chr15:90294229 [GRCh37] Chr15:15q26.1	likely benign
NM_018670.4(MESP1):c.182T>G (p.Leu61Arg)	single nucleotide variant	not provided [RCV002187101]	Chr15:89751050 [GRCh38] Chr15:90294281 [GRCh37] Chr15:15q26.1	benign
NM_018670.4(MESP1):c.204C>T (p.Ser68=)	single nucleotide variant	not provided [RCV002124607]	Chr15:89751028 [GRCh38] Chr15:90294259 [GRCh37] Chr15:15q26.1	benign
NM_018670.4(MESP1):c.435G>T (p.Glu145Asp)	single nucleotide variant	not provided [RCV002077420]	Chr15:89750797 [GRCh38] Chr15:90294028 [GRCh37] Chr15:15q26.1	benign
NM_018670.4(MESP1):c.174A>C (p.Pro58=)	single nucleotide variant	not provided [RCV002132268]	Chr15:89751058 [GRCh38] Chr15:90294289 [GRCh37] Chr15:15q26.1	benign
NM_018670.4(MESP1):c.657G>T (p.Pro219=)	single nucleotide variant	not provided [RCV002200418]	Chr15:89750575 [GRCh38] Chr15:90293806 [GRCh37] Chr15:15q26.1	benign
NM_018670.4(MESP1):c.503A>G (p.Asp168Gly)	single nucleotide variant	not provided [RCV002163847]	Chr15:89750729 [GRCh38] Chr15:90293960 [GRCh37] Chr15:15q26.1	benign
NM_018670.4(MESP1):c.526A>T (p.Thr176Ser)	single nucleotide variant	not provided [RCV002124251]	Chr15:89750706 [GRCh38] Chr15:90293937 [GRCh37] Chr15:15q26.1	likely benign
NM_018670.4(MESP1):c.669C>G (p.Phe223Leu)	single nucleotide variant	not provided [RCV002118414]	Chr15:89750563 [GRCh38] Chr15:90293794 [GRCh37] Chr15:15q26.1	benign
NM_018670.4(MESP1):c.33G>C (p.Glu11Asp)	single nucleotide variant	not provided [RCV002122713]	Chr15:89751199 [GRCh38] Chr15:90294430 [GRCh37] Chr15:15q26.1	benign
NM_018670.4(MESP1):c.157G>C (p.Ala53Pro)	single nucleotide variant	not provided [RCV002122882]	Chr15:89751075 [GRCh38] Chr15:90294306 [GRCh37] Chr15:15q26.1	benign
NM_018670.4(MESP1):c.357C>T (p.Ser119=)	single nucleotide variant	not provided [RCV002158378]	Chr15:89750875 [GRCh38] Chr15:90294106 [GRCh37] Chr15:15q26.1	likely benign
NM_018670.4(MESP1):c.153C>A (p.Pro51=)	single nucleotide variant	not provided [RCV002136742]	Chr15:89751079 [GRCh38] Chr15:90294310 [GRCh37] Chr15:15q26.1	benign
NM_018670.4(MESP1):c.100C>G (p.Arg34Gly)	single nucleotide variant	not provided [RCV002083871]	Chr15:89751132 [GRCh38] Chr15:90294363 [GRCh37] Chr15:15q26.1	benign
NM_018670.4(MESP1):c.166_167insTGCCGAGCCCCG (p.Pro55_Ala56insValProSerPro)	insertion	not provided [RCV002144309]	Chr15:89751065..89751066 [GRCh38] Chr15:90294296..90294297 [GRCh37] Chr15:15q26.1	benign

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:29658	AgrOrtholog
COSMIC	MESP1	COSMIC
Ensembl Genes	ENSG00000166823	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein	ENSP00000300057	ENTREZGENE
	ENSP00000300057.4	UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000300057	ENTREZGENE
	ENST00000300057.5	UniProtKB/Swiss-Prot
Gene3D-CATH	4.10.280.10	UniProtKB/Swiss-Prot
GTEx	ENSG00000166823	GTEx
HGNC ID	HGNC:29658	ENTREZGENE
Human Proteome Map	MESP1	Human Proteome Map
InterPro	bHLH_dom	UniProtKB/Swiss-Prot
	HLH_DNA-bd_sf	UniProtKB/Swiss-Prot
	Mesogenin/MesP	UniProtKB/Swiss-Prot
KEGG Report	hsa:55897	UniProtKB/Swiss-Prot
NCBI Gene	55897	ENTREZGENE
OMIM	608689	OMIM
PANTHER	PTHR20937	UniProtKB/Swiss-Prot
Pfam	HLH	UniProtKB/Swiss-Prot
PharmGKB	PA142671468	PharmGKB
PROSITE	BHLH	UniProtKB/Swiss-Prot
SMART	HLH	UniProtKB/Swiss-Prot
Superfamily-SCOP	SSF47459	UniProtKB/Swiss-Prot
UniProt	MESP1_HUMAN	UniProtKB/Swiss-Prot, ENTREZGENE
	Q9NSF2	ENTREZGENE
UniProt Secondary	Q9NSF1	UniProtKB/Swiss-Prot
	Q9NSF2	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2015-06-23	MESP1	mesoderm posterior bHLH transcription factor 1		mesoderm posterior basic helix-loop-helix transcription factor 1	Symbol and/or name change	5135510	APPROVED
2014-07-08	MESP1	mesoderm posterior basic helix-loop-helix transcription factor 1		mesoderm posterior 1 homolog (mouse)	Symbol and/or name change	5135510	APPROVED

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

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Imported Disease Annotations - ClinVar