DMRTB1 (DMRT like family B with proline rich C-terminal 1)

Gene: DMRTB1 (DMRT like family B with proline rich C-terminal 1) Homo sapiens

Analyze

Symbol:

DMRTB1

Name:

DMRT like family B with proline rich C-terminal 1

RGD ID:

1349847

HGNC Page

HGNC:13913

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 be involved in germ cell development; regulation of transcription by RNA polymerase II; and sex differentiation. Predicted to be part of chromatin. Predicted to be active in nucleus.

Type:

protein-coding

RefSeq Status:

VALIDATED

Previously known as:

DMRT-like family B with proline-rich C-terminal 1; DMRT-like family B with proline-rich C-terminal, 1; doublesex- and mab-3-related transcription factor B1

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	1	53,459,399 - 53,467,488 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	1	53,459,399 - 53,467,488 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	1	53,925,072 - 53,933,161 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	1	53,697,660 - 53,705,746 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	1	53,637,092 - 53,645,179	NCBI
Celera	1	52,212,407 - 52,220,492 (+)	NCBI		Celera
Cytogenetic Map	1	p32.3	NCBI
HuRef	1	52,040,600 - 52,048,686 (+)	NCBI		HuRef
CHM1_1	1	54,041,825 - 54,049,911 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	1	53,341,642 - 53,349,731 (+)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

17alpha-ethynylestradiol (ISO)

2,3',4,4',5-Pentachlorobiphenyl (ISO)

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

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

4,4'-sulfonyldiphenol (EXP,ISO)

5-aza-2'-deoxycytidine (EXP)

aflatoxin B1 (EXP)

all-trans-retinoic acid (ISO)

benzo[a]pyrene (EXP)

bisphenol A (ISO)

clofibrate (ISO)

fulvestrant (EXP)

lipopolysaccharide (EXP)

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

ozone (ISO)

permethrin (ISO)

S-(1,2-dichlorovinyl)-L-cysteine (EXP)

triptonide (ISO)

valproic acid (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

germ cell development (IBA)

regulation of DNA-templated transcription (IEA)

regulation of transcription by RNA polymerase II (IBA)

sex differentiation (IBA)

Cellular Component

chromatin (ISA)

nucleus (IBA,IEA)

Molecular Function

DNA binding (IEA)

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

metal ion binding (IEA)

protein binding (IPI)

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

sequence-specific DNA binding (IEA,ISO)

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:11863363	PMID:12477932	PMID:14702039	PMID:16189514	PMID:16713569	PMID:19060904	PMID:19274049	PMID:20339536	PMID:21516116	PMID:21873635	PMID:25416956	PMID:26871637
PMID:27107014	PMID:28514442	PMID:30217970	PMID:30920770	PMID:32296183	PMID:33961781	PMID:34133714

Genomics

Comparative Map Data

DMRTB1
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	1	53,459,399 - 53,467,488 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	1	53,459,399 - 53,467,488 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	1	53,925,072 - 53,933,161 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	1	53,697,660 - 53,705,746 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	1	53,637,092 - 53,645,179	NCBI
Celera	1	52,212,407 - 52,220,492 (+)	NCBI		Celera
Cytogenetic Map	1	p32.3	NCBI
HuRef	1	52,040,600 - 52,048,686 (+)	NCBI		HuRef
CHM1_1	1	54,041,825 - 54,049,911 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	1	53,341,642 - 53,349,731 (+)	NCBI		T2T-CHM13v2.0

Dmrtb1
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	4	107,533,485 - 107,561,208 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	4	107,533,487 - 107,541,427 (-)	Ensembl		GRCm39 Ensembl
GRCm38	4	107,676,288 - 107,704,011 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	4	107,676,290 - 107,684,230 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	4	107,348,895 - 107,356,767 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	4	107,174,227 - 107,184,159 (-)	NCBI		MGSCv36	mm8
Celera	4	106,024,406 - 106,032,279 (-)	NCBI		Celera
Cytogenetic Map	4	C7	NCBI
cM Map	4	50.18	NCBI

Dmrtb1
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	5	127,673,641 - 127,681,251 (-)	NCBI		GRCr8
mRatBN7.2	5	122,444,853 - 122,452,483 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	5	122,444,841 - 122,452,396 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	5	125,066,290 - 125,073,120 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	5	126,789,326 - 126,796,156 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	5	126,840,644 - 126,847,475 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	5	127,266,824 - 127,273,656 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	5	127,266,824 - 127,273,656 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	5	131,114,908 - 131,121,740 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	5	128,780,184 - 128,787,016 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
Celera	5	121,188,308 - 121,195,163 (-)	NCBI		Celera
Cytogenetic Map	5	q34	NCBI

Dmrtb1
(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	NW_004955464	5,719,916 - 5,726,768 (-)	NCBI	ChiLan1.0	ChiLan1.0

DMRTB1
(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	1	173,368,805 - 173,379,065 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	1	172,509,652 - 172,519,885 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	1	52,731,659 - 52,739,731 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	1	54,330,257 - 54,338,649 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	1	54,329,966 - 54,337,823 (+)	Ensembl	panpan1.1		panPan2

DMRTB1
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	5	55,487,402 - 55,495,624 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	5	55,488,234 - 55,495,548 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	5	55,553,733 - 55,561,941 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	5	55,676,127 - 55,684,320 (-)	NCBI		ROS_Cfam_1.0
UMICH_Zoey_3.1	5	55,669,953 - 55,678,148 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	5	55,559,939 - 55,568,135 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	5	55,949,547 - 55,957,753 (-)	NCBI		UU_Cfam_GSD_1.0

Dmrtb1
(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_024405058	67,790,287 - 67,812,804 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936522	7,604,269 - 7,611,693 (-)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936522	7,604,269 - 7,611,699 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

DMRTB1
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1	6	158,794,954 - 158,803,931 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	6	146,498,101 - 146,506,315 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

DMRTB1
(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	20	79,463,104 - 79,472,483 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	20	79,463,931 - 79,471,408 (-)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666033	37,811,824 - 37,820,124 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Dmrtb1
(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 1.0	NW_004624934	987,817 - 996,700 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in DMRTB1
28 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 1p32.3-31.3(chr1:50222546-61618373)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051819]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051819]\|See cases [RCV000051819]	Chr1:50222546..61618373 [GRCh38] Chr1:50688218..62084045 [GRCh37] Chr1:50460805..61856633 [NCBI36] Chr1:1p32.3-31.3	pathogenic
GRCh38/hg38 1p32.3-31.1(chr1:52595352-76767765)x3	copy number gain	See cases [RCV000051822]	Chr1:52595352..76767765 [GRCh38] Chr1:53061024..77233450 [GRCh37] Chr1:52833612..77006038 [NCBI36] Chr1:1p32.3-31.1	pathogenic
NM_033067.2(DMRTB1):c.695C>T (p.Pro232Leu)	single nucleotide variant	Malignant melanoma [RCV000060214]	Chr1:53461590 [GRCh38] Chr1:53927263 [GRCh37] Chr1:53699851 [NCBI36] Chr1:1p32.3	not provided
GRCh38/hg38 1p32.3-31.3(chr1:52787503-67339873)x3	copy number gain	See cases [RCV000141758]	Chr1:52787503..67339873 [GRCh38] Chr1:53253175..67805556 [GRCh37] Chr1:53025763..67578144 [NCBI36] Chr1:1p32.3-31.3	likely pathogenic
GRCh37/hg19 1p36.12-12(chr1:20608823-120546301)x3	copy number loss	not provided [RCV000762767]	Chr1:20608823..120546301 [GRCh37] Chr1:1p36.12-12	likely benign
GRCh37/hg19 1p32.3(chr1:51729573-55164001)x1	copy number loss	See cases [RCV000447334]	Chr1:51729573..55164001 [GRCh37] Chr1:1p32.3	pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	copy number gain	See cases [RCV000510383]	Chr1:849467..249224684 [GRCh37] Chr1:1p36.33-q44	pathogenic
GRCh37/hg19 1p32.3(chr1:53370010-54017544)x3	copy number gain	See cases [RCV000511590]	Chr1:53370010..54017544 [GRCh37] Chr1:1p32.3	uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	copy number gain	See cases [RCV000510926]	Chr1:849467..249224684 [GRCh37] Chr1:1p36.33-q44	pathogenic
NM_033067.3(DMRTB1):c.150G>A (p.Met50Ile)	single nucleotide variant	not specified [RCV004310207]	Chr1:53459603 [GRCh38] Chr1:53925276 [GRCh37] Chr1:1p32.3	uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3	copy number gain	not provided [RCV000736295]	Chr1:47851..249228449 [GRCh37] Chr1:1p36.33-q44	pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3	copy number gain	not provided [RCV000736305]	Chr1:82154..249218992 [GRCh37] Chr1:1p36.33-q44	pathogenic
GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	copy number gain	Global developmental delay [RCV000787285]	Chr1:103343285..103455144 [GRCh37] Chr1:1p36.22-21.1	uncertain significance
NM_033067.3(DMRTB1):c.235G>A (p.Gly79Arg)	single nucleotide variant	not specified [RCV004320685]	Chr1:53459688 [GRCh38] Chr1:53925361 [GRCh37] Chr1:1p32.3	uncertain significance
NM_033067.3(DMRTB1):c.262G>C (p.Val88Leu)	single nucleotide variant	not specified [RCV004231959]	Chr1:53459715 [GRCh38] Chr1:53925388 [GRCh37] Chr1:1p32.3	uncertain significance
GRCh37/hg19 1p32.3-31.3(chr1:53675707-66644963)x1	copy number loss	Chromosome 1p32-p31 deletion syndrome [RCV001263218]	Chr1:53675707..66644963 [GRCh37] Chr1:1p32.3-31.3	pathogenic
GRCh37/hg19 1p32.3-32.2(chr1:51941877-56688514)	copy number loss	Abnormality of the kidney [RCV001352641]	Chr1:51941877..56688514 [GRCh37] Chr1:1p32.3-32.2	pathogenic
NM_033067.3(DMRTB1):c.986C>T (p.Ser329Leu)	single nucleotide variant	not specified [RCV004297253]	Chr1:53466619 [GRCh38] Chr1:53932292 [GRCh37] Chr1:1p32.3	uncertain significance
NM_033067.3(DMRTB1):c.521C>T (p.Pro174Leu)	single nucleotide variant	not specified [RCV004171354]	Chr1:53459974 [GRCh38] Chr1:53925647 [GRCh37] Chr1:1p32.3	uncertain significance
NM_033067.3(DMRTB1):c.269T>C (p.Val90Ala)	single nucleotide variant	not specified [RCV004232235]	Chr1:53459722 [GRCh38] Chr1:53925395 [GRCh37] Chr1:1p32.3	likely benign
NM_033067.3(DMRTB1):c.932T>C (p.Val311Ala)	single nucleotide variant	not specified [RCV004149104]	Chr1:53464818 [GRCh38] Chr1:53930491 [GRCh37] Chr1:1p32.3	uncertain significance
NM_033067.3(DMRTB1):c.250G>C (p.Ala84Pro)	single nucleotide variant	not specified [RCV004231957]	Chr1:53459703 [GRCh38] Chr1:53925376 [GRCh37] Chr1:1p32.3	uncertain significance
NM_033067.3(DMRTB1):c.782G>T (p.Ser261Ile)	single nucleotide variant	not specified [RCV004126072]	Chr1:53464668 [GRCh38] Chr1:53930341 [GRCh37] Chr1:1p32.3	uncertain significance
NM_033067.3(DMRTB1):c.268G>C (p.Val90Leu)	single nucleotide variant	not specified [RCV004232234]	Chr1:53459721 [GRCh38] Chr1:53925394 [GRCh37] Chr1:1p32.3	uncertain significance
NM_033067.3(DMRTB1):c.384C>A (p.Asn128Lys)	single nucleotide variant	not specified [RCV004175582]	Chr1:53459837 [GRCh38] Chr1:53925510 [GRCh37] Chr1:1p32.3	uncertain significance
NM_033067.3(DMRTB1):c.364C>G (p.Gln122Glu)	single nucleotide variant	not specified [RCV004229693]	Chr1:53459817 [GRCh38] Chr1:53925490 [GRCh37] Chr1:1p32.3	uncertain significance
NM_033067.3(DMRTB1):c.533G>A (p.Arg178His)	single nucleotide variant	not specified [RCV004195341]	Chr1:53459986 [GRCh38] Chr1:53925659 [GRCh37] Chr1:1p32.3	uncertain significance
NM_033067.3(DMRTB1):c.599C>T (p.Pro200Leu)	single nucleotide variant	not specified [RCV004112065]	Chr1:53461494 [GRCh38] Chr1:53927167 [GRCh37] Chr1:1p32.3	uncertain significance
NM_033067.3(DMRTB1):c.262G>A (p.Val88Ile)	single nucleotide variant	not specified [RCV004117423]	Chr1:53459715 [GRCh38] Chr1:53925388 [GRCh37] Chr1:1p32.3	uncertain significance
NM_033067.3(DMRTB1):c.286C>T (p.Arg96Cys)	single nucleotide variant	not specified [RCV004229437]	Chr1:53459739 [GRCh38] Chr1:53925412 [GRCh37] Chr1:1p32.3	likely benign
NM_033067.3(DMRTB1):c.416G>A (p.Gly139Asp)	single nucleotide variant	not specified [RCV004108092]	Chr1:53459869 [GRCh38] Chr1:53925542 [GRCh37] Chr1:1p32.3	uncertain significance
NM_033067.3(DMRTB1):c.256G>C (p.Ala86Pro)	single nucleotide variant	not specified [RCV004231958]	Chr1:53459709 [GRCh38] Chr1:53925382 [GRCh37] Chr1:1p32.3	uncertain significance
NM_033067.3(DMRTB1):c.1016A>G (p.Glu339Gly)	single nucleotide variant	not specified [RCV004147306]	Chr1:53466649 [GRCh38] Chr1:53932322 [GRCh37] Chr1:1p32.3	uncertain significance
NM_033067.3(DMRTB1):c.152C>T (p.Ala51Val)	single nucleotide variant	not specified [RCV004097223]	Chr1:53459605 [GRCh38] Chr1:53925278 [GRCh37] Chr1:1p32.3	uncertain significance
NM_033067.3(DMRTB1):c.724C>G (p.Arg242Gly)	single nucleotide variant	not specified [RCV004069510]	Chr1:53461619 [GRCh38] Chr1:53927292 [GRCh37] Chr1:1p32.3	uncertain significance
NM_033067.3(DMRTB1):c.962A>T (p.Asp321Val)	single nucleotide variant	not specified [RCV004087472]	Chr1:53466595 [GRCh38] Chr1:53932268 [GRCh37] Chr1:1p32.3	uncertain significance
NM_033067.3(DMRTB1):c.196G>A (p.Glu66Lys)	single nucleotide variant	not specified [RCV004278131]	Chr1:53459649 [GRCh38] Chr1:53925322 [GRCh37] Chr1:1p32.3	uncertain significance
NM_033067.3(DMRTB1):c.364C>A (p.Gln122Lys)	single nucleotide variant	not specified [RCV004278066]	Chr1:53459817 [GRCh38] Chr1:53925490 [GRCh37] Chr1:1p32.3	uncertain significance
NM_033067.3(DMRTB1):c.815C>T (p.Pro272Leu)	single nucleotide variant	not specified [RCV004327908]	Chr1:53464701 [GRCh38] Chr1:53930374 [GRCh37] Chr1:1p32.3	uncertain significance
NM_033067.3(DMRTB1):c.313G>A (p.Gly105Arg)	single nucleotide variant	not specified [RCV004347535]	Chr1:53459766 [GRCh38] Chr1:53925439 [GRCh37] Chr1:1p32.3	uncertain significance
Single allele	inversion	Bilateral polymicrogyria [RCV003459046]	Chr1:33246132..61045156 [GRCh38] Chr1:1p35.1-31.3	likely pathogenic
NM_033067.3(DMRTB1):c.694C>T (p.Pro232Ser)	single nucleotide variant	not provided [RCV003406501]	Chr1:53461589 [GRCh38] Chr1:53927262 [GRCh37] Chr1:1p32.3	likely benign
GRCh37/hg19 1p33-32.2(chr1:47493178-57042671)x3	copy number gain	not specified [RCV003986484]	Chr1:47493178..57042671 [GRCh37] Chr1:1p33-32.2	likely pathogenic
NM_033067.3(DMRTB1):c.224A>G (p.Lys75Arg)	single nucleotide variant	not specified [RCV004368576]	Chr1:53459677 [GRCh38] Chr1:53925350 [GRCh37] Chr1:1p32.3	uncertain significance
NM_033067.3(DMRTB1):c.679G>A (p.Ala227Thr)	single nucleotide variant	not specified [RCV004368580]	Chr1:53461574 [GRCh38] Chr1:53927247 [GRCh37] Chr1:1p32.3	uncertain significance
NM_033067.3(DMRTB1):c.629G>A (p.Gly210Asp)	single nucleotide variant	not specified [RCV004368578]	Chr1:53461524 [GRCh38] Chr1:53927197 [GRCh37] Chr1:1p32.3	uncertain significance
NM_033067.3(DMRTB1):c.697C>G (p.Leu233Val)	single nucleotide variant	not specified [RCV004368581]	Chr1:53461592 [GRCh38] Chr1:53927265 [GRCh37] Chr1:1p32.3	uncertain significance
NM_033067.3(DMRTB1):c.827C>T (p.Pro276Leu)	single nucleotide variant	not specified [RCV004368582]	Chr1:53464713 [GRCh38] Chr1:53930386 [GRCh37] Chr1:1p32.3	uncertain significance
NM_033067.3(DMRTB1):c.890C>T (p.Pro297Leu)	single nucleotide variant	not specified [RCV004368583]	Chr1:53464776 [GRCh38] Chr1:53930449 [GRCh37] Chr1:1p32.3	uncertain significance
NM_033067.3(DMRTB1):c.282C>A (p.Ser94Arg)	single nucleotide variant	not specified [RCV004368577]	Chr1:53459735 [GRCh38] Chr1:53925408 [GRCh37] Chr1:1p32.3	uncertain significance
NM_033067.3(DMRTB1):c.629G>T (p.Gly210Val)	single nucleotide variant	not specified [RCV004368579]	Chr1:53461524 [GRCh38] Chr1:53927197 [GRCh37] Chr1:1p32.3	uncertain significance

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	762
Count of miRNA genes:	535
Interacting mature miRNAs:	592
Transcripts:	ENST00000371445, ENST00000463126
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

SHGC-146662

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	1	53,927,770 - 53,928,064	UniSTS	GRCh37
Build 36	1	53,700,358 - 53,700,652	RGD	NCBI36
Celera	1	52,215,105 - 52,215,399	RGD
Cytogenetic Map	1	p32.3	UniSTS
HuRef	1	52,043,298 - 52,043,592	UniSTS
TNG Radiation Hybrid Map	1	29508.0	UniSTS

AL009902

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	1	53,931,350 - 53,931,481	UniSTS	GRCh37
Build 36	1	53,703,938 - 53,704,069	RGD	NCBI36
Celera	1	52,218,684 - 52,218,815	RGD
Cytogenetic Map	1	p32.3	UniSTS
HuRef	1	52,046,878 - 52,047,009	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

adipose tissue

appendage

High

Medium

378

Low

131

133

Below cutoff

709

735

777

161

288

100

1252

543

1029

367

667

374

747

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_033067	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AJ291671	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK057273	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK302085	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL365445	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC029566	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471059	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068277	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	HC006928	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	HC044505	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	JC342811	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KT584653	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KU178739	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KU178740	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

RefSeq Acc Id:

ENST00000371445 ⟹ ENSP00000360500

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	53,459,399 - 53,467,488 (+)	Ensembl

RefSeq Acc Id:

ENST00000463126

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	53,459,976 - 53,464,679 (+)	Ensembl

RefSeq Acc Id:

NM_033067 ⟹ NP_149056

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	53,459,399 - 53,467,488 (+)	NCBI
GRCh37	1	53,925,072 - 53,933,158 (+)	RGD
Build 36	1	53,697,660 - 53,705,746 (+)	NCBI Archive
Celera	1	52,212,407 - 52,220,492 (+)	RGD
HuRef	1	52,040,600 - 52,048,686 (+)	ENTREZGENE
CHM1_1	1	54,041,825 - 54,049,914 (+)	NCBI
T2T-CHM13v2.0	1	53,341,642 - 53,349,731 (+)	NCBI

Sequence:

show sequence

ACTTGCTCTGCAGCTCCCAGAGGTGGTGGTTGTGTTACGAAGGCTGACCCTGCCAATGGCCGAC
AAAATGGTGCGCACCCCCAAGTGCTCGAGATGCAGGAACCATGGCTTCCTGGTGCCCGTCAAGG
GACACGCGGGCAAATGCCGCTGGAAGCAGTGCCTCTGCGAGAAGTGCTACCTGATCTCCGAGCG
CCAGAAGATCATGGCCGCGCAGAAGGTGCTCAAGACGCAGGCCGCCGAGGAGGAGCAGGAGGCG
GCCCTGTGTGCGCAGGGGCCCAAGCAGGCCTCCGGGGCTGCGGCCGCCGCCCCCGCCCCCGTCC
CCGTCCCGGCCGCGAGCCTCCGCCCGCTGTCCCCGGGGACTCCCTCCGGAGACGCCGACCCGGG
ACCCGAGGGCCGCGCGGCCGCTTGCTTCTTCGAGCAGCCCCCGCGGGGCCGGAACCCCGGCCCG
AGAGCCCTCCAGCCGGTTCTGGGCGGCCGCAGCCACGTGGAGCCGAGCGAGCGAGCCGCCGTGG
CGATGCCCAGCCTTGCGGGACCCCCTTTTGGGGCGGAGGCCGCAGGCAGTGGCTACCCTGGCCC
CCTAGACCTGCGCAGGCCGATGCGGACCGTGCCCGGCCCACTGTTCACCGACTTTGTGCGCCCT
CTGAACATCAACCCGGACCGTGCACTGGGCCCTGAGTACCCTGGTGGCTCCAGCATGCACCCCT
ACTGCCCGTTCCCGCTGGGCTACCTGGACGCCCCTCCTGGCGTCCCCCTGCAGCAGGGCTTCCG
GCATGTGTCCCGCAGCCAGTACCAAGGCGGAGGCTTGGTGTCAGAACCAGGAGGAGACTTCCAG
CCAAGCTACTACCTGCCGCCGCCGCCGCCGCCACTGCCGCCCCTTCCACCGCTTCCACCGCAGC
CCCAGTTCCTCCCGCCAGGCTACCTCTCTGCGCTCCACTTCCTCCCCCCGCCACCGCCACCACC
ACCTCCATCATCTTTCTCACTGACCGTCCTGTTTGATACTGACAAGGAGAACACTGATGACCAG
GATGCAGAGGTACTGTCGGGTGAGCCCAGCCAGCCATCGTCTCAGGAGCAGTCCGACTAGGCCC
CAGGCCCGCCCTCCTGGCCAGCAGAGTGGGGCACTGGGGGGCAACAGCAACAGTTTTCTTGTCT
TCATTCAGTGATATGTAGGGAGGAAGGAGGTTGATAGCATAGATGGCAACTGATTCCCAGTTTA
AGATAGGAGGAAGGAGAGCAATTTCTAAGTTTCAATCCTGCGCTGTACAGTTGAAGAAGAGTGT
GGAGGAAGCTATTACCAGGGGAGGGCCAGGGCTCTGAGGAGTGGGCGCTGGGAGAAGCTCCCAT
TTAGGAATGAATTTAACTGTCCTTGGGTTACACTACCATTTATTGGAACAAGCCCCAGAGGCAG
TATTTGATTTCCTCAGGCCCCACTCTAGGACAGGAGGCACCATCTATTTCAGCCTTCTGCTGCC
TTTGCCTGGTCCTCCAGGTTGCTGGGGGCACCACAGACATCAAGATTCCAGTTCATCCAGGTGG
CTGGAGCCAGCAGCCAGGACCAGGGTCGTTGACAGCAGGTTCTGCAGCATCCTGCCTTGCTGCT
CTGTCCCCCACATCTTCCTGGCCACAGCCCCTTGCCCCTCCTCTAAGGGGTTTTACTAGCAAGC
ATCCTGGCTGCTGGGGCTACTTCATTCCCCCTCCATAAAGTTTCAGCCATTATGGGCACTGGTT
TTAAAAAATTTATTAGTTTGACTATTTGATGTTTTTATAGTGATTGCCAACTTTAAAAAGTAGG
CTGTTCATAAGCACTGATGCAGTCCCTAGGGAATAGAATGGTGCTTCTGATCACCTGTGACATG
AACAGTTTCTTCTGTGAGGACAGTTGGCTATTGAAATAAAATGAGCAATGGAAA

hide sequence

Protein Sequences


Protein RefSeqs	NP_149056	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAH29566	(Get FASTA)	NCBI Sequence Viewer
	ALQ34197	(Get FASTA)	NCBI Sequence Viewer
	ALQ34198	(Get FASTA)	NCBI Sequence Viewer
	BAB71407	(Get FASTA)	NCBI Sequence Viewer
	BAG63472	(Get FASTA)	NCBI Sequence Viewer
	CAC40654	(Get FASTA)	NCBI Sequence Viewer
	CBH19269	(Get FASTA)	NCBI Sequence Viewer
	CBH30582	(Get FASTA)	NCBI Sequence Viewer
	CDM63604	(Get FASTA)	NCBI Sequence Viewer
	EAX06735	(Get FASTA)	NCBI Sequence Viewer
	EAX06736	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000360500
	ENSP00000360500.3
GenBank Protein	Q96MA1	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:

NP_149056 ⟸ NM_033067

- UniProtKB:

Q96SD2 (UniProtKB/Swiss-Prot), Q96MA1 (UniProtKB/Swiss-Prot)

- Sequence:

show sequence

MADKMVRTPKCSRCRNHGFLVPVKGHAGKCRWKQCLCEKCYLISERQKIMAAQKVLKTQAAEEE
QEAALCAQGPKQASGAAAAAPAPVPVPAASLRPLSPGTPSGDADPGPEGRAAACFFEQPPRGRN
PGPRALQPVLGGRSHVEPSERAAVAMPSLAGPPFGAEAAGSGYPGPLDLRRPMRTVPGPLFTDF
VRPLNINPDRALGPEYPGGSSMHPYCPFPLGYLDAPPGVPLQQGFRHVSRSQYQGGGLVSEPGG
DFQPSYYLPPPPPPLPPLPPLPPQPQFLPPGYLSALHFLPPPPPPPPPSSFSLTVLFDTDKENT
DDQDAEVLSGEPSQPSSQEQSD

hide sequence

RefSeq Acc Id:

ENSP00000360500 ⟸ ENST00000371445

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q96MA1-F1-model_v2	AlphaFold	Q96MA1	1-342	view protein structure

Promoters

RGD ID:

6855594

Promoter ID:

EPDNEW_H962

Type:

initiation region

Name:

DMRTB1_2

Description:

DMRT like family B with proline rich C-terminal 1

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H961

Experiment Methods:

Single-end sequencing.; Paired-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	53,459,399 - 53,459,459	EPDNEW

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:13913	AgrOrtholog
COSMIC	DMRTB1	COSMIC
Ensembl Genes	ENSG00000143006	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000371445	ENTREZGENE
	ENST00000371445.3	UniProtKB/Swiss-Prot
Gene3D-CATH	4.10.1040.10	UniProtKB/Swiss-Prot
GTEx	ENSG00000143006	GTEx
HGNC ID	HGNC:13913	ENTREZGENE
Human Proteome Map	DMRTB1	Human Proteome Map
InterPro	DM_DNA-bd	UniProtKB/Swiss-Prot
	DM_DNA-bd_sf	UniProtKB/Swiss-Prot
	DMRT/dsx/mab-3	UniProtKB/Swiss-Prot
KEGG Report	hsa:63948	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene	63948	ENTREZGENE
OMIM	614805	OMIM
PANTHER	DOUBLESEX- AND MAB-3-RELATED TRANSCRIPTION FACTOR B1	UniProtKB/Swiss-Prot
	PTHR12322	UniProtKB/Swiss-Prot
Pfam	PF00751	UniProtKB/Swiss-Prot
PharmGKB	PA27386	PharmGKB
PROSITE	DM_1	UniProtKB/Swiss-Prot
	DM_2	UniProtKB/Swiss-Prot
SMART	SM00301	UniProtKB/Swiss-Prot
Superfamily-SCOP	SSF82927	UniProtKB/Swiss-Prot
UniProt	A0A0S2Z5I3_HUMAN	UniProtKB/TrEMBL
	DMRTB_HUMAN	UniProtKB/Swiss-Prot
	I6L9A0_HUMAN	UniProtKB/TrEMBL
	Q96MA1	ENTREZGENE
	Q96SD2	ENTREZGENE
UniProt Secondary	Q96SD2	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2015-12-01	DMRTB1	DMRT like family B with proline rich C-terminal 1		DMRT-like family B with proline-rich C-terminal, 1	Symbol and/or name change	5135510	APPROVED

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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