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Gene: DDX49 (DEAD-box helicase 49) Homo sapiens

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Symbol:

DDX49

Name:

DEAD-box helicase 49

RGD ID:

1322415

HGNC Page

HGNC:18684

Description:

Enables RNA binding activity. Involved in positive regulation of cell growth and regulation of rRNA stability. Predicted to be located in nucleoplasm. Predicted to be active in nucleus.

Type:

protein-coding

RefSeq Status:

VALIDATED

Previously known as:

Dbp8; DEAD (Asp-Glu-Ala-Asp) box polypeptide 49; DEAD box protein 49; FLJ10432; probable ATP-dependent RNA helicase DDX49; R27090_2

RGD Orthologs

Alliance Orthologs

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):	Ddx49 (DEAD box helicase 49)	HGNC	EggNOG, Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Rattus norvegicus (Norway rat):	Ddx49 (DEAD-box helicase 49)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, Treefam
Chinchilla lanigera (long-tailed chinchilla):	Ddx49 (DEAD-box helicase 49)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	DDX49 (DEAD-box helicase 49)	NCBI	Ortholog
Canis lupus familiaris (dog):	DDX49 (DEAD-box helicase 49)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, Treefam
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Ddx49 (DEAD-box helicase 49)	NCBI	Ortholog
Sus scrofa (pig):	DDX49 (DEAD-box helicase 49)	HGNC	EggNOG, Ensembl, Inparanoid, NCBI, OMA, OrthoDB, Panther, Treefam
Chlorocebus sabaeus (green monkey):	DDX49 (DEAD-box helicase 49)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Ddx49 (DEAD-box helicase 49)	NCBI	Ortholog
Other homologs ²
Rattus norvegicus (Norway rat):	Anxa5 (annexin A5)	HGNC	OMA
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Ddx49 (DEAD-box helicase 49)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Mus musculus (house mouse):	Ddx49 (DEAD box helicase 49)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Danio rerio (zebrafish):	ddx49 (DEAD (Asp-Glu-Ala-Asp) box polypeptide 49)	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid\|ZFIN)
Saccharomyces cerevisiae (baker's yeast):	DBP8	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Drosophila melanogaster (fruit fly):	Dbp45A	Alliance	DIOPT (Ensembl Compara\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Caenorhabditis elegans (roundworm):	H20J04.4	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Xenopus laevis (African clawed frog):	ddx49.S	Alliance	DIOPT (Xenbase)
Xenopus laevis (African clawed frog):	ddx49.L	Alliance	DIOPT (Xenbase)
Xenopus tropicalis (tropical clawed frog):	ddx49	Alliance	DIOPT (Ensembl Compara\|OMA\|OrthoFinder\|PANTHER\|PhylomeDB)

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	19	18,919,715 - 18,928,630 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	19	18,919,705 - 18,929,189 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	19	19,030,524 - 19,039,439 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	19	18,891,494 - 18,900,436 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	19	18,891,493 - 18,900,436	NCBI
Celera	19	18,935,308 - 18,944,265 (+)	NCBI		Celera
Cytogenetic Map	19	p13.11	NCBI
HuRef	19	18,594,898 - 18,603,856 (+)	NCBI		HuRef
CHM1_1	19	19,030,151 - 19,039,109 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	19	19,055,473 - 19,064,418 (+)	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

Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 (IAGP)

progressive myoclonus epilepsy 8 (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

(+)-schisandrin B (ISO)

1,2-dimethylhydrazine (ISO)

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

amiodarone (EXP)

aristolochic acid A (EXP)

atrazine (EXP)

bisphenol A (EXP,ISO)

bisphenol F (ISO)

cadmium dichloride (ISO)

choline (ISO)

copper atom (ISO)

copper(0) (ISO)

cyclosporin A (EXP)

dibutyl phthalate (ISO)

diquat (ISO)

doxorubicin (EXP)

elemental selenium (EXP)

endosulfan (ISO)

folic acid (ISO)

gentamycin (ISO)

glafenine (ISO)

ivermectin (EXP)

L-methionine (ISO)

selenium atom (EXP)

silver atom (ISO)

silver(0) (ISO)

sunitinib (EXP)

tetrachloroethene (ISO)

tetrachloromethane (ISO)

titanium dioxide (ISO)

triphenyl phosphate (EXP)

troglitazone (ISO)

tunicamycin (EXP)

valproic acid (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

chromatin looping (IEA)

chromatin remodeling (IEA)

positive regulation of cell growth (IMP)

regulation of rRNA stability (IMP)

rRNA processing (IBA)

Cellular Component

nucleoplasm (IDA,TAS)

nucleus (IBA,IEA)

Molecular Function

ATP binding (IEA)

ATP hydrolysis activity (IEA)

ATP-dependent H2AZ histone chaperone activity (IEA)

ATP-dependent H3-H4 histone complex chaperone activity (IEA)

chromatin extrusion motor activity (IEA)

cohesin loader activity (IEA)

DNA clamp loader activity (IEA)

helicase activity (IEA)

hydrolase activity (IEA)

nucleic acid binding (IEA)

protein binding (IPI)

RNA binding (HDA,IEA)

RNA helicase activity (IDA,IEA)

References

References - curated

#	Reference Title	Reference Citation
1.	GOAs Human GO annotations	GOA_HUMAN data from the GO Consortium
2.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions

Additional References at PubMed

PMID:8125298	PMID:11790298	PMID:12477932	PMID:14702039	PMID:15057824	PMID:15342556	PMID:15489334	PMID:16169070	PMID:16344560	PMID:17207965	PMID:18976975	PMID:20360068
PMID:21081503	PMID:21244100	PMID:21873635	PMID:21988832	PMID:22190034	PMID:22242598	PMID:22658674	PMID:22939629	PMID:25281560	PMID:26344197	PMID:27926873	PMID:28431233
PMID:28514442	PMID:29467282	PMID:29509190	PMID:29618122	PMID:30415952	PMID:30462309	PMID:30585729	PMID:30884312	PMID:30940648	PMID:31091453	PMID:31527615	PMID:31586073
PMID:31749282	PMID:32296183	PMID:32665550	PMID:32807901	PMID:33089952	PMID:33226137	PMID:33952717	PMID:33961781	PMID:34079125	PMID:34133714	PMID:34189442	PMID:34373451
PMID:35256949	PMID:35271311	PMID:35509820	PMID:35944360	PMID:36215168	PMID:36298642	PMID:36724073	PMID:36912080	PMID:37071682	PMID:37094865	PMID:37106339	PMID:37267103
PMID:37827155	PMID:38697112

Genomics

Comparative Map Data

DDX49
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	19	18,919,715 - 18,928,630 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	19	18,919,705 - 18,929,189 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	19	19,030,524 - 19,039,439 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	19	18,891,494 - 18,900,436 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	19	18,891,493 - 18,900,436	NCBI
Celera	19	18,935,308 - 18,944,265 (+)	NCBI		Celera
Cytogenetic Map	19	p13.11	NCBI
HuRef	19	18,594,898 - 18,603,856 (+)	NCBI		HuRef
CHM1_1	19	19,030,151 - 19,039,109 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	19	19,055,473 - 19,064,418 (+)	NCBI		T2T-CHM13v2.0

Ddx49
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	8	70,745,516 - 70,755,121 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	8	70,745,516 - 70,755,139 (-)	Ensembl		GRCm39 Ensembl
GRCm38	8	70,292,866 - 70,302,471 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	8	70,292,866 - 70,302,489 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	8	72,816,765 - 72,826,351 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	8	73,221,855 - 73,231,441 (-)	NCBI		MGSCv36	mm8
Celera	8	72,849,364 - 72,858,949 (-)	NCBI		Celera
Cytogenetic Map	8	B3.3	NCBI
cM Map	8	34.15	NCBI

Ddx49
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	16	19,159,353 - 19,167,003 (+)	NCBI		GRCr8
mRatBN7.2	16	19,125,388 - 19,133,042 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	16	19,125,384 - 19,133,616 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	16	19,165,188 - 19,172,843 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	16	20,297,707 - 20,305,359 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	16	19,218,149 - 19,225,804 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	16	20,873,585 - 20,881,312 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	16	20,873,642 - 20,881,439 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	16	20,725,435 - 20,733,085 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	16	19,609,670 - 19,617,320 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	16	19,609,685 - 19,617,247 (+)	NCBI
Celera	16	19,315,664 - 19,323,314 (+)	NCBI		Celera
Cytogenetic Map	16	p14	NCBI

Ddx49
(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_004955524	2,760,860 - 2,767,665 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955524	2,760,692 - 2,767,709 (-)	NCBI	ChiLan1.0	ChiLan1.0

DDX49
(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	20	23,781,013 - 23,789,938 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	19	22,787,215 - 22,796,150 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	19	18,357,682 - 18,366,614 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	19	19,364,949 - 19,373,869 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	19	19,364,949 - 19,373,869 (+)	Ensembl	panpan1.1		panPan2

DDX49
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	20	44,187,407 - 44,195,131 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	20	44,187,264 - 44,195,467 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	20	44,102,815 - 44,110,485 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	20	44,674,342 - 44,682,008 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	20	44,674,199 - 44,681,866 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	20	43,911,619 - 43,919,297 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	20	44,321,827 - 44,329,506 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	20	44,597,295 - 44,604,966 (-)	NCBI		UU_Cfam_GSD_1.0

Ddx49
(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_024405118	202,865,241 - 202,873,586 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936596	2,413,505 - 2,422,759 (-)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936596	2,414,380 - 2,422,730 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

DDX49
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	2	58,922,988 - 58,930,716 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	2	58,922,985 - 58,930,710 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	2	58,721,788 - 58,729,508 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

DDX49
(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	6	17,376,050 - 17,384,625 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	6	17,376,273 - 17,384,663 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666074	1,938,428 - 1,948,153 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Ddx49
(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_004624908	1,963,738 - 1,970,634 (+)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624908	1,963,701 - 1,970,634 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in DDX49
18 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 19p13.11-q13.11(chr19:17176767-34924150)x3	copy number gain	See cases [RCV000050635]	Chr19:17176767..34924150 [GRCh38] Chr19:17287576..35415054 [GRCh37] Chr19:17148576..40106894 [NCBI36] Chr19:19p13.11-q13.11	pathogenic
GRCh38/hg38 19p13.12-q11(chr19:13974677-27839676)x3	copy number gain	See cases [RCV000052912]	Chr19:13974677..27839676 [GRCh38] Chr19:14085489..28330584 [GRCh37] Chr19:13946489..33022424 [NCBI36] Chr19:19p13.12-q11	pathogenic
GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	copy number gain	See cases [RCV000133888]	Chr19:11227942..44626354 [GRCh38] Chr19:11338618..45129651 [GRCh37] Chr19:11199618..49821491 [NCBI36] Chr19:19p13.2-q13.31	pathogenic
GRCh38/hg38 19p13.12-12(chr19:15133594-24193591)x3	copy number gain	See cases [RCV000136696]	Chr19:15133594..24193591 [GRCh38] Chr19:15244405..24376393 [GRCh37] Chr19:15105405..24168233 [NCBI36] Chr19:19p13.12-12	pathogenic\|likely pathogenic
GRCh37/hg19 19p13.11(chr19:18136482-19087534)x3	copy number gain	See cases [RCV000449006]	Chr19:18136482..19087534 [GRCh37] Chr19:19p13.11	uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	copy number gain	See cases [RCV000512296]	Chr19:260912..58956888 [GRCh37] Chr19:19p13.3-q13.43	pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	copy number gain	See cases [RCV000511289]	Chr19:260912..58956888 [GRCh37] Chr19:19p13.3-q13.43	pathogenic\|uncertain significance
GRCh37/hg19 19p13.11-11(chr19:16526787-24631604)x3	copy number gain	not provided [RCV000752593]	Chr19:16526787..24631604 [GRCh37] Chr19:19p13.11-11	pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3	copy number gain	not provided [RCV000752439]	Chr19:68029..59110290 [GRCh37] Chr19:19p13.3-q13.43	pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3	copy number gain	not provided [RCV000752444]	Chr19:260912..59097160 [GRCh37] Chr19:19p13.3-q13.43	pathogenic
GRCh37/hg19 19p13.12-12(chr19:14286624-20956753)x3	copy number gain	not provided [RCV001259370]	Chr19:14286624..20956753 [GRCh37] Chr19:19p13.12-12	pathogenic
NC_000019.9:g.(?_18893725)_(19312528_?)del	deletion	Progressive myoclonic epilepsy type 8 [RCV001955725]	Chr19:18893725..19312528 [GRCh37] Chr19:19p13.11	uncertain significance
NC_000019.9:g.(?_17927663)_(19312528_?)dup	duplication	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV003116292]	Chr19:17927663..19312528 [GRCh37] Chr19:19p13.11	uncertain significance
NM_019070.5(DDX49):c.815G>C (p.Ser272Thr)	single nucleotide variant	not specified [RCV004190853]	Chr19:18924271 [GRCh38] Chr19:19035080 [GRCh37] Chr19:19p13.11	uncertain significance
NM_019070.5(DDX49):c.440G>C (p.Arg147Pro)	single nucleotide variant	not specified [RCV004204409]	Chr19:18921957 [GRCh38] Chr19:19032766 [GRCh37] Chr19:19p13.11	uncertain significance
NM_019070.5(DDX49):c.530C>G (p.Pro177Arg)	single nucleotide variant	not specified [RCV004133518]	Chr19:18922408 [GRCh38] Chr19:19033217 [GRCh37] Chr19:19p13.11	uncertain significance
NM_019070.5(DDX49):c.979G>A (p.Gly327Arg)	single nucleotide variant	not specified [RCV004215580]	Chr19:18924931 [GRCh38] Chr19:19035740 [GRCh37] Chr19:19p13.11	uncertain significance
NM_019070.5(DDX49):c.634C>T (p.Pro212Ser)	single nucleotide variant	not specified [RCV004278603]	Chr19:18922512 [GRCh38] Chr19:19033321 [GRCh37] Chr19:19p13.11	uncertain significance
NM_019070.5(DDX49):c.1031G>A (p.Arg344Gln)	single nucleotide variant	not specified [RCV004340335]	Chr19:18926306 [GRCh38] Chr19:19037115 [GRCh37] Chr19:19p13.11	uncertain significance
NM_019070.5(DDX49):c.1391G>A (p.Arg464His)	single nucleotide variant	not specified [RCV004334559]	Chr19:18928255 [GRCh38] Chr19:19039064 [GRCh37] Chr19:19p13.11	likely benign
NM_019070.5(DDX49):c.171C>T (p.Val57=)	single nucleotide variant	not provided [RCV003423464]	Chr19:18920635 [GRCh38] Chr19:19031444 [GRCh37] Chr19:19p13.11	likely benign
NM_019070.5(DDX49):c.1260G>C (p.Gly420=)	single nucleotide variant	not provided [RCV003423465]	Chr19:18928033 [GRCh38] Chr19:19038842 [GRCh37] Chr19:19p13.11	likely benign
GRCh37/hg19 19p13.11-12(chr19:18926463-21100330)x1	copy number loss	not specified [RCV003986109]	Chr19:18926463..21100330 [GRCh37] Chr19:19p13.11-12	uncertain significance
NM_019070.5(DDX49):c.305G>T (p.Cys102Phe)	single nucleotide variant	not specified [RCV004375864]	Chr19:18921728 [GRCh38] Chr19:19032537 [GRCh37] Chr19:19p13.11	uncertain significance
NM_019070.5(DDX49):c.499G>A (p.Val167Met)	single nucleotide variant	not specified [RCV004375866]	Chr19:18922377 [GRCh38] Chr19:19033186 [GRCh37] Chr19:19p13.11	uncertain significance
NM_019070.5(DDX49):c.521C>A (p.Ala174Glu)	single nucleotide variant	not specified [RCV004375867]	Chr19:18922399 [GRCh38] Chr19:19033208 [GRCh37] Chr19:19p13.11	uncertain significance
NM_019070.5(DDX49):c.826G>A (p.Val276Met)	single nucleotide variant	not specified [RCV004375869]	Chr19:18924282 [GRCh38] Chr19:19035091 [GRCh37] Chr19:19p13.11	uncertain significance
NM_019070.5(DDX49):c.106A>G (p.Ile36Val)	single nucleotide variant	not specified [RCV004375862]	Chr19:18919847 [GRCh38] Chr19:19030656 [GRCh37] Chr19:19p13.11	uncertain significance
NM_019070.5(DDX49):c.1286G>A (p.Arg429His)	single nucleotide variant	not specified [RCV004375863]	Chr19:18928150 [GRCh38] Chr19:19038959 [GRCh37] Chr19:19p13.11	uncertain significance
NM_019070.5(DDX49):c.348G>T (p.Glu116Asp)	single nucleotide variant	not specified [RCV004375865]	Chr19:18921865 [GRCh38] Chr19:19032674 [GRCh37] Chr19:19p13.11	uncertain significance
NM_019070.5(DDX49):c.521C>T (p.Ala174Val)	single nucleotide variant	not specified [RCV004375868]	Chr19:18922399 [GRCh38] Chr19:19033208 [GRCh37] Chr19:19p13.11	uncertain significance
NM_019070.5(DDX49):c.841A>G (p.Met281Val)	single nucleotide variant	not specified [RCV004375870]	Chr19:18924297 [GRCh38] Chr19:19035106 [GRCh37] Chr19:19p13.11	uncertain significance
NM_019070.5(DDX49):c.1238G>A (p.Arg413Gln)	single nucleotide variant	not specified [RCV004611676]	Chr19:18928011 [GRCh38] Chr19:19038820 [GRCh37] Chr19:19p13.11	uncertain significance
NM_019070.5(DDX49):c.330G>A (p.Met110Ile)	single nucleotide variant	not specified [RCV004611682]	Chr19:18921847 [GRCh38] Chr19:19032656 [GRCh37] Chr19:19p13.11	uncertain significance
NM_019070.5(DDX49):c.697G>C (p.Ala233Pro)	single nucleotide variant	not specified [RCV004611683]	Chr19:18922665 [GRCh38] Chr19:19033474 [GRCh37] Chr19:19p13.11	uncertain significance
NM_019070.5(DDX49):c.806G>A (p.Arg269His)	single nucleotide variant	not specified [RCV004611679]	Chr19:18924262 [GRCh38] Chr19:19035071 [GRCh37] Chr19:19p13.11	uncertain significance
NM_019070.5(DDX49):c.653A>T (p.Gln218Leu)	single nucleotide variant	not specified [RCV004611684]	Chr19:18922621 [GRCh38] Chr19:19033430 [GRCh37] Chr19:19p13.11	uncertain significance
NM_019070.5(DDX49):c.422T>G (p.Phe141Cys)	single nucleotide variant	not specified [RCV004611685]	Chr19:18921939 [GRCh38] Chr19:19032748 [GRCh37] Chr19:19p13.11	uncertain significance
NM_019070.5(DDX49):c.169G>C (p.Val57Leu)	single nucleotide variant	not specified [RCV004611677]	Chr19:18920633 [GRCh38] Chr19:19031442 [GRCh37] Chr19:19p13.11	uncertain significance
NM_019070.5(DDX49):c.271C>T (p.Arg91Trp)	single nucleotide variant	not specified [RCV004611678]	Chr19:18921694 [GRCh38] Chr19:19032503 [GRCh37] Chr19:19p13.11	uncertain significance
NM_019070.5(DDX49):c.739G>A (p.Glu247Lys)	single nucleotide variant	not specified [RCV004611680]	Chr19:18922707 [GRCh38] Chr19:19033516 [GRCh37] Chr19:19p13.11	uncertain significance
NM_019070.5(DDX49):c.899G>A (p.Arg300Gln)	single nucleotide variant	not specified [RCV004611686]	Chr19:18924669 [GRCh38] Chr19:19035478 [GRCh37] Chr19:19p13.11	uncertain significance

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	5154
Count of miRNA genes:	985
Interacting mature miRNAs:	1228
Transcripts:	ENST00000247003, ENST00000438170, ENST00000593361, ENST00000594021, ENST00000595858, ENST00000596502, ENST00000598277, ENST00000598972, ENST00000599156, ENST00000599373, ENST00000599981, ENST00000601772, ENST00000601803, ENST00000602113
Prediction methods:	Microtar, 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.

QTLs in Region (GRCh38)

The following QTLs overlap with this region.

RGD ID	Symbol	Name	LOD	P Value	Trait	Sub Trait	Chr	Start	Stop	Species
1300034	BP50_H	Blood pressure QTL 50 (human)	2.1	0.00094	Blood pressure	systolic	19	11089463	37089463	Human
407139480	GWAS788456_H	p-tau measurement, cerebrospinal fluid biomarker measurement QTL GWAS788456 (human)		0.000003	p-tau measurement, cerebrospinal fluid biomarker measurement	cerebrospinal fluid chemistry measurement (CMO:0001241)	19	18924545	18924546	Human
407139481	GWAS788457_H	p-tau:beta-amyloid 1-42 ratio measurement QTL GWAS788457 (human)		0.0000003	cerebral cortex integrity trait (VT:0010923)		19	18924545	18924546	Human

Markers in Region

RH11747

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	19	19,039,175 - 19,039,376	UniSTS	GRCh37
Build 36	19	18,900,175 - 18,900,376	RGD	NCBI36
Celera	19	18,943,998 - 18,944,199	RGD
Cytogenetic Map	19	p12	UniSTS
HuRef	19	18,603,589 - 18,603,790	UniSTS
GeneMap99-GB4 RH Map	19	102.54	UniSTS
NCBI RH Map	19	171.7	UniSTS

SHGC-37004

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	19	19,039,282 - 19,039,412	UniSTS	GRCh37
Build 36	19	18,900,282 - 18,900,412	RGD	NCBI36
Celera	19	18,944,105 - 18,944,235	RGD
Cytogenetic Map	19	p12	UniSTS
HuRef	19	18,603,696 - 18,603,826	UniSTS
GeneMap99-G3 RH Map	19	676.0	UniSTS

MARC_6357-6358:997299583:1

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	19	19,035,720 - 19,037,168	UniSTS	GRCh37
Celera	19	18,940,543 - 18,941,991	UniSTS
HuRef	19	18,600,134 - 18,601,582	UniSTS

Expression

RNA-SEQ Expression

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

Download All Expressed Objects for this Gene

adipose tissue	alimentary part of gastrointestinal system	appendage	circulatory system	ectoderm	endocrine system	endoderm	entire extraembryonic component	exocrine system	hemolymphoid system	hepatobiliary system	integumental system	mesenchyme	mesoderm	musculoskeletal system	nervous system	pharyngeal arch	renal system	reproductive system	respiratory system	sensory system	visual system
1204	2437	2788	2250	4964	1724	2351	6	624	1949	465	2270	7299	6467	52	3726	1	852	1742	1617	175	1

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_019070	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NR_033677	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011528083	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011528084	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054321274	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AC002985	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK001294	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK223294	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK291916	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL110272	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL137702	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AU148229	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC000979	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC002674	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BP252678	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BX647408	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471106	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068259	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DA136213	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	HB905800	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	HB919032	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	HB926276	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	HB943136	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	HB954386	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	HC963209	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	HC976441	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	HC983685	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	HD000546	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	HD011796	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	HH961784	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000247003 ⟹ ENSP00000247003

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	18,919,715 - 18,928,630 (+)	Ensembl

Ensembl Acc Id:

ENST00000593361 ⟹ ENSP00000472289

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	18,919,728 - 18,922,416 (+)	Ensembl

Ensembl Acc Id:

ENST00000594021 ⟹ ENSP00000470440

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	18,919,715 - 18,922,507 (+)	Ensembl

Ensembl Acc Id:

ENST00000595858 ⟹ ENSP00000471292

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	18,919,727 - 18,928,626 (+)	Ensembl

Ensembl Acc Id:

ENST00000596502

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	18,927,744 - 18,928,538 (+)	Ensembl

Ensembl Acc Id:

ENST00000598277

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	18,924,653 - 18,928,335 (+)	Ensembl

Ensembl Acc Id:

ENST00000598972 ⟹ ENSP00000472084

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	18,919,729 - 18,924,282 (+)	Ensembl

Ensembl Acc Id:

ENST00000599156

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	18,922,332 - 18,927,843 (+)	Ensembl

Ensembl Acc Id:

ENST00000599373

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	18,919,715 - 18,922,092 (+)	Ensembl

Ensembl Acc Id:

ENST00000599981

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	18,919,715 - 18,921,979 (+)	Ensembl

Ensembl Acc Id:

ENST00000601772

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	18,922,710 - 18,925,185 (+)	Ensembl

Ensembl Acc Id:

ENST00000601803

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	18,921,747 - 18,925,188 (+)	Ensembl

Ensembl Acc Id:

ENST00000602113 ⟹ ENSP00000469086

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	18,919,738 - 18,928,622 (+)	Ensembl

Ensembl Acc Id:

ENST00000629999 ⟹ ENSP00000487048

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	18,919,705 - 18,929,189 (+)	Ensembl

RefSeq Acc Id:

NM_019070 ⟹ NP_061943

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	18,919,715 - 18,928,630 (+)	NCBI
GRCh37	19	19,030,484 - 19,039,442 (+)	RGD
Build 36	19	18,891,494 - 18,900,436 (+)	NCBI Archive
Celera	19	18,935,308 - 18,944,265 (+)	RGD
HuRef	19	18,594,898 - 18,603,856 (+)	RGD
CHM1_1	19	19,030,151 - 19,039,109 (+)	NCBI
T2T-CHM13v2.0	19	19,055,473 - 19,064,418 (+)	NCBI

Sequence:

show sequence

AAGGGGCCCCTACAAGCGGCCACAAGGATGGCAGGCTTCGCGGAGCTCGGGCTGTCATCGTGGC
TCGTGGAACAATGTCGGCAGCTGGGTTTGAAGCAGCCCACGCCCGTGCAGCTCGGCTGCATCCC
CGCCATCCTGGAGGGTCGAGACTGCTTGGGCTGTGCTAAGACAGGCAGTGGGAAGACAGCAGCG
TTTGTCCTTCCCATCTTGCAGAAGCTGTCTGAGGATCCCTATGGCATCTTCTGCCTCGTCCTGA
CACCCACCAGGGAGCTGGCCTACCAGATCGCAGAGCAGTTCCGGGTCCTGGGGAAGCCTCTAGG
GCTGAAAGACTGCATCATCGTCGGTGGCATGGACATGGTGGCCCAGGCGCTGGAGCTCTCTCGG
AAACCACACGTGGTCATCGCCACGCCGGGGCGCCTGGCAGATCACCTGCGCAGCTCCAACACTT
TTAGTATAAAGAAGATCCGCTTCCTGGTGATGGATGAGGCAGACCGGCTGCTGGAACAGGGCTG
CACTGACTTCACCGTGGACCTGGAGGCCATCCTGGCGGCTGTGCCGGCCCGCAGGCAGACACTG
CTGTTCAGCGCCACGCTGACCGACACACTCCGGGAGCTGCAGGGTCTGGCCACCAACCAGCCCT
TCTTCTGGGAAGCACAGGCCCCGGTGAGCACCGTGGAGCAGCTGGACCAGCGCTACCTGCTGGT
GCCTGAGAAGGTCAAGGACGCCTACCTGGTCCACCTGATCCAGCGCTTCCAGGATGAGCACGAG
GACTGGTCCATTATCATCTTCACCAACACGTGCAAGACCTGCCAGATTCTGTGCATGATGCTGC
GCAAATTCAGCTTCCCCACCGTGGCTCTGCACTCCATGATGAAGCAGAAAGAACGCTTTGCCGC
CCTAGCCAAGTTCAAGTCCAGCATCTACCGGATCCTGATCGCAACAGACGTGGCCTCCCGGGGC
CTGGACATCCCTACGGTACAGGTGGTCATCAACCACAACACCCCCGGGCTCCCCAAGATCTACA
TCCACCGAGTCGGCCGGACGGCCCGTGCAGGGCGGCAGGGTCAGGCCATCACGCTGGTGACACA
GTACGACATCCACCTGGTGCACGCCATCGAGGAGCAGATCAAGAAGAAGCTGGAGGAGTTCTCC
GTGGAAGAGGCCGAGGTGCTACAGATCCTCACACAGGTCAACGTGGTGCGAAGAGAGTGTGAGA
TCAAACTGGAGGCGGCCCACTTTGACGAAAAGAAGGAGATCAACAAACGGAAGCAGCTGATCCT
GGAGGGGAAGGACCCTGACCTGGAGGCCAAGCGCAAGGCTGAGCTGGCCAAGATCAAGCAGAAG
AACCGGCGCTTCAAGGAGAAGGTGGAGGAGACGCTGAAGCGACAGAAGGCTGGCAGGGCTGGCC
ACAAGGGGCGTCCACCCAGGACACCGTCTGGGTCCCACTCAGGCCCAGTCCCCTCCCAGGGCCT
GGTCTGAGCCCCACACGGCCATCTGCCCAGTCCTTGACTCGTCCATGGAGCTGAGGGTCGGAGG
AACCTTCCTTGGGGGCAGCAGCCCTTCCCGGGGGCCTACCCAGTGCCCCACAGCAGAACCCGTG
GGCGCTCGTGTTGTGCGGGCCCTGCTCCTCTGCCCCGAAACCACTGGCTGGTCCCTTCCCTGAG
CCCTGGCCAAGATTCAGGCTGCAGGGGAAGAAAGAACATGACCGGGAGGTTGTGACCCCAACCC
AAGGTCACCCCCCAGGGGTGCCGCATACAGGAGGTGCTTAATAAACGGGTCTTTTGACTTCCTC
A

hide sequence

RefSeq Acc Id:

NR_033677

RefSeq Status:

VALIDATED

Type:

NON-CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	18,919,715 - 18,928,630 (+)	NCBI
GRCh37	19	19,030,484 - 19,039,442 (+)	RGD
Celera	19	18,935,308 - 18,944,265 (+)	RGD
HuRef	19	18,594,898 - 18,603,856 (+)	RGD
CHM1_1	19	19,030,151 - 19,039,109 (+)	NCBI
T2T-CHM13v2.0	19	19,055,473 - 19,064,418 (+)	NCBI

Sequence:

show sequence

AAGGGGCCCCTACAAGCGGCCACAAGGATGGCAGGCTTCGCGGAGCTCGGGCTGTCATCGTGGC
TCGTGGAACAATGTCGGCAGCTGGGTTTGAAGCAGCCCACGCCCGTGCAGCTCGGCTGCATCCC
CGCCATCCTGGAGGAAGCTGTCTGAGGATCCCTATGGCATCTTCTGCCTCGTCCTGACACCCAC
CAGGGAGCTGGCCTACCAGATCGCAGAGCAGTTCCGGGTCCTGGGGAAGCCTCTAGGGCTGAAA
GACTGCATCATCGTCGGTGGCATGGACATGGTGGCCCAGGCGCTGGAGCTCTCTCGGAAACCAC
ACGTGGTCATCGCCACGCCGGGGCGCCTGGCAGATCACCTGCGCAGCTCCAACACTTTTAGTAT
AAAGAAGATCCGCTTCCTGGTGATGGATGAGGCAGACCGGCTGCTGGAACAGGGCTGCACTGAC
TTCACCGTGGACCTGGAGGCCATCCTGGCGGCTGTGCCGGCCCGCAGGCAGACACTGCTGTTCA
GCGCCACGCTGACCGACACACTCCGGGAGCTGCAGGGTCTGGCCACCAACCAGCCCTTCTTCTG
GGAAGCACAGGCCCCGGTGAGCACCGTGGAGCAGCTGGACCAGCGCTACCTGCTGGTGCCTGAG
AAGGTCAAGGACGCCTACCTGGTCCACCTGATCCAGCGCTTCCAGGATGAGCACGAGGACTGGT
CCATTATCATCTTCACCAACACGTGCAAGACCTGCCAGATTCTGTGCATGATGCTGCGCAAATT
CAGCTTCCCCACCGTGGCTCTGCACTCCATGATGAAGCAGAAAGAACGCTTTGCCGCCCTAGCC
AAGTTCAAGTCCAGCATCTACCGGATCCTGATCGCAACAGACGTGGCCTCCCGGGGCCTGGACA
TCCCTACGGTACAGGTGGTCATCAACCACAACACCCCCGGGCTCCCCAAGATCTACATCCACCG
AGTCGGCCGGACGGCCCGTGCAGGGCGGCAGGGTCAGGCCATCACGCTGGTGACACAGTACGAC
ATCCACCTGGTGCACGCCATCGAGGAGCAGATCAAGAAGAAGCTGGAGGAGTTCTCCGTGGAAG
AGGCCGAGGTGCTACAGATCCTCACACAGGTCAACGTGGTGCGAAGAGAGTGTGAGATCAAACT
GGAGGCGGCCCACTTTGACGAAAAGAAGGAGATCAACAAACGGAAGCAGCTGATCCTGGAGGGG
AAGGACCCTGACCTGGAGGCCAAGCGCAAGGCTGAGCTGGCCAAGATCAAGCAGAAGAACCGGC
GCTTCAAGGAGAAGGTGGAGGAGACGCTGAAGCGACAGAAGGCTGGCAGGGCTGGCCACAAGGG
GCGTCCACCCAGGACACCGTCTGGGTCCCACTCAGGCCCAGTCCCCTCCCAGGGCCTGGTCTGA
GCCCCACACGGCCATCTGCCCAGTCCTTGACTCGTCCATGGAGCTGAGGGTCGGAGGAACCTTC
CTTGGGGGCAGCAGCCCTTCCCGGGGGCCTACCCAGTGCCCCACAGCAGAACCCGTGGGCGCTC
GTGTTGTGCGGGCCCTGCTCCTCTGCCCCGAAACCACTGGCTGGTCCCTTCCCTGAGCCCTGGC
CAAGATTCAGGCTGCAGGGGAAGAAAGAACATGACCGGGAGGTTGTGACCCCAACCCAAGGTCA
CCCCCCAGGGGTGCCGCATACAGGAGGTGCTTAATAAACGGGTCTTTTGACTTCCTCA

hide sequence

RefSeq Acc Id:

XM_011528084 ⟹ XP_011526386

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	18,919,715 - 18,928,630 (+)	NCBI

Sequence:

show sequence

AAGCGGCCACAAGGATGGCAGGCTTCGCGGAGCTCGGGCTGTCATCGTGGCTCGTGGAACAATG
TCGGCAGCTGGGTTTGAAGCAGCCCACGCCCGTGCAGCTCGGCTGCATCCCCGCCATCCTGGAG
GAAGCTGTCTGAGGATCCCTATGGCATCTTCTGCCTCGTCCTGACACCCACCAGGGGTCCTGCA
GAATTAAACAAGATGGCCCCGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGCTCC
AGGGAGCTGGCCTACCAGATCGCAGAGCAGTTCCGGGTCCTGGGGAAGCCTCTAGGGCTGAAAG
ACTGCATCATCGTCGGTGGCATGGACATGGTGGCCCAGGCGCTGGAGCTCTCTCGGAAACCACA
CGTGGTCATCGCCACGCCGGGGCGCCTGGCAGATCACCTGCGCAGCTCCAACACTTTTAGTATA
AAGAAGATCCGCTTCCTGGTGATGGATGAGGCAGACCGGCTGCTGGAACAGGGCTGCACTGACT
TCACCGTGGACCTGGAGGCCATCCTGGCGGCTGTGCCGGCCCGCAGGCAGACACTGCTGTTCAG
CGCCACGCTGACCGACACACTCCGGGAGCTGCAGGGTCTGGCCACCAACCAGCCCTTCTTCTGG
GAAGCACAGGCCCCGGTGAGCACCGTGGAGCAGCTGGACCAGCGCTACCTGCTGGTGCCTGAGA
AGGTCAAGGACGCCTACCTGGTCCACCTGATCCAGCGCTTCCAGGATGAGCACGAGGACTGGTC
CATTATCATCTTCACCAACACGTGCAAGACCTGCCAGATTCTGTGCATGATGCTGCGCAAATTC
AGCTTCCCCACCGTGGCTCTGCACTCCATGATGAAGCAGAAAGAACGCTTTGCCGCCCTAGCCA
AGTTCAAGTCCAGCATCTACCGGATCCTGATCGCAACAGACGTGGCCTCCCGGGGCCTGGACAT
CCCTACGGTACAGGTGGTCATCAACCACAACACCCCCGGGCTCCCCAAGATCTACATCCACCGA
GTCGGCCGGACGGCCCGTGCAGGGCGGCAGGGTCAGGCCATCACGCTGGTGACACAGTACGACA
TCCACCTGGTGCACGCCATCGAGGAGCAGATCAAGAAGAAGCTGGAGGAGTTCTCCGTGGAAGA
GGCCGAGGTGCTACAGATCCTCACACAGGTCAACGTGGTGCGAAGAGAGTGTGAGATCAAACTG
GAGGCGGCCCACTTTGACGAAAAGAAGGAGATCAACAAACGGAAGCAGCTGATCCTGGAGGGGA
AGGACCCTGACCTGGAGGCCAAGCGCAAGGCTGAGCTGGCCAAGATCAAGCAGAAGAACCGGCG
CTTCAAGGAGAAGGTGGAGGAGACGCTGAAGCGACAGAAGGCTGGCAGGGCTGGCCACAAGGGG
CGTCCACCCAGGACACCGTCTGGGTCCCACTCAGGCCCAGTCCCCTCCCAGGGCCTGGTCTGAG
CCCCACACGGCCATCTGCCCAGTCCTTGACTCGTCCATGGAGCTGAGGGTCGGAGGAACCTTCC
TTGGGGGCAGCAGCCCTTCCCGGGGGCCTACCCAGTGCCCCACAGCAGAACCCGTGGGCGCTCG
TGTTGTGCGGGCCCTGCTCCTCTGCCCCGAAACCACTGGCTGGTCCCTTCCCTGAGCCCTGGCC
AAGATTCAGGCTGCAGGGGAAGAAAGAACATGACCGGGAGGTTGTGACCCCAACCCAAGGTCAC
CCCCCAGGGGTGCCGCATACAGGAGGTGCTTAATAAACGGGTCTTTTGACTTCCTCA

hide sequence

RefSeq Acc Id:

XM_054321274 ⟹ XP_054177249

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	19	19,055,473 - 19,064,418 (+)	NCBI

Protein Sequences


Protein RefSeqs	NP_061943	(Get FASTA)	NCBI Sequence Viewer
	XP_011526386	(Get FASTA)	NCBI Sequence Viewer
	XP_054177249	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAB81544	(Get FASTA)	NCBI Sequence Viewer
	AAH00979	(Get FASTA)	NCBI Sequence Viewer
	AAH02674	(Get FASTA)	NCBI Sequence Viewer
	BAA91606	(Get FASTA)	NCBI Sequence Viewer
	BAD97014	(Get FASTA)	NCBI Sequence Viewer
	BAF84605	(Get FASTA)	NCBI Sequence Viewer
	CAH10707	(Get FASTA)	NCBI Sequence Viewer
	CAH10729	(Get FASTA)	NCBI Sequence Viewer
	CBF85090	(Get FASTA)	NCBI Sequence Viewer
	CBF94524	(Get FASTA)	NCBI Sequence Viewer
	CBF98080	(Get FASTA)	NCBI Sequence Viewer
	CBG06329	(Get FASTA)	NCBI Sequence Viewer
	CBG11847	(Get FASTA)	NCBI Sequence Viewer
	CBV01569	(Get FASTA)	NCBI Sequence Viewer
	CBV08044	(Get FASTA)	NCBI Sequence Viewer
	CBV11600	(Get FASTA)	NCBI Sequence Viewer
	CBV19851	(Get FASTA)	NCBI Sequence Viewer
	CBV25361	(Get FASTA)	NCBI Sequence Viewer
	CBX51365	(Get FASTA)	NCBI Sequence Viewer
	EAW84758	(Get FASTA)	NCBI Sequence Viewer
	EAW84759	(Get FASTA)	NCBI Sequence Viewer
	EAW84760	(Get FASTA)	NCBI Sequence Viewer
	EAW84761	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000247003
	ENSP00000247003.3
	ENSP00000469086.1
	ENSP00000470440.1
	ENSP00000471292.1
	ENSP00000472084.1
	ENSP00000472289.1
	ENSP00000487048.1
GenBank Protein	Q9Y6V7	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:

NP_061943 ⟸ NM_019070

- UniProtKB:

Q53FJ1 (UniProtKB/Swiss-Prot), E7ENA0 (UniProtKB/Swiss-Prot), Q9BVQ8 (UniProtKB/Swiss-Prot), Q9Y6V7 (UniProtKB/Swiss-Prot), A8K7A1 (UniProtKB/TrEMBL)

- Sequence:

show sequence

MAGFAELGLSSWLVEQCRQLGLKQPTPVQLGCIPAILEGRDCLGCAKTGSGKTAAFVLPILQKL
SEDPYGIFCLVLTPTRELAYQIAEQFRVLGKPLGLKDCIIVGGMDMVAQALELSRKPHVVIATP
GRLADHLRSSNTFSIKKIRFLVMDEADRLLEQGCTDFTVDLEAILAAVPARRQTLLFSATLTDT
LRELQGLATNQPFFWEAQAPVSTVEQLDQRYLLVPEKVKDAYLVHLIQRFQDEHEDWSIIIFTN
TCKTCQILCMMLRKFSFPTVALHSMMKQKERFAALAKFKSSIYRILIATDVASRGLDIPTVQVV
INHNTPGLPKIYIHRVGRTARAGRQGQAITLVTQYDIHLVHAIEEQIKKKLEEFSVEEAEVLQI
LTQVNVVRRECEIKLEAAHFDEKKEINKRKQLILEGKDPDLEAKRKAELAKIKQKNRRFKEKVE
ETLKRQKAGRAGHKGRPPRTPSGSHSGPVPSQGLV

hide sequence

RefSeq Acc Id:

XP_011526386 ⟸ XM_011528084

- Peptide Label:

isoform X1

- Sequence:

show sequence

MDMVAQALELSRKPHVVIATPGRLADHLRSSNTFSIKKIRFLVMDEADRLLEQGCTDFTVDLEA
ILAAVPARRQTLLFSATLTDTLRELQGLATNQPFFWEAQAPVSTVEQLDQRYLLVPEKVKDAYL
VHLIQRFQDEHEDWSIIIFTNTCKTCQILCMMLRKFSFPTVALHSMMKQKERFAALAKFKSSIY
RILIATDVASRGLDIPTVQVVINHNTPGLPKIYIHRVGRTARAGRQGQAITLVTQYDIHLVHAI
EEQIKKKLEEFSVEEAEVLQILTQVNVVRRECEIKLEAAHFDEKKEINKRKQLILEGKDPDLEA
KRKAELAKIKQKNRRFKEKVEETLKRQKAGRAGHKGRPPRTPSGSHSGPVPSQGLV

hide sequence

Ensembl Acc Id:

ENSP00000471292 ⟸ ENST00000595858

Ensembl Acc Id:

ENSP00000472084 ⟸ ENST00000598972

Ensembl Acc Id:

ENSP00000247003 ⟸ ENST00000247003

Ensembl Acc Id:

ENSP00000487048 ⟸ ENST00000629999

Ensembl Acc Id:

ENSP00000469086 ⟸ ENST00000602113

Ensembl Acc Id:

ENSP00000472289 ⟸ ENST00000593361

Ensembl Acc Id:

ENSP00000470440 ⟸ ENST00000594021

RefSeq Acc Id:	XP_054177249 ⟸ XM_054321274
- Peptide Label:	isoform X1

Protein Domains

DEAD-box RNA helicase Q Helicase ATP-binding Helicase C-terminal

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q9Y6V7-F1-model_v2	AlphaFold	Q9Y6V7	1-483	view protein structure

Promoters

RGD ID:

6795326

Promoter ID:

HG_KWN:29328

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell, CD4+TCell_12Hour, CD4+TCell_2Hour, HeLa_S3, Jurkat, K562, Lymphoblastoid, NB4

Transcripts:

NM_007263, NM_019070, NM_199442, NM_199444, NR_033677, UC002NKN.1, UC002NKR.1

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	19	18,891,031 - 18,891,602 (+)	MPROMDB

RGD ID:

6851000

Promoter ID:

EP73296

Type:

initiation region

Name:

HS_DDX49

Description:

DEAD (Asp-Glu-Ala-Asp) box polypeptide 49.

SO ACC ID:

SO:0000170

Source:

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

Experiment Methods:

NEDO full length human cDNA sequencing project.; Oligo-capping

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	19	18,891,524 - 18,891,584	EPD

RGD ID:

7239193

Promoter ID:

EPDNEW_H25342

Type:

initiation region

Name:

DDX49_2

Description:

DEAD-box helicase 49

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H25344

Experiment Methods:

Single-end sequencing.; Paired-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	18,919,141 - 18,919,201	EPDNEW

RGD ID:

7239195

Promoter ID:

EPDNEW_H25344

Type:

initiation region

Name:

DDX49_1

Description:

DEAD-box helicase 49

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H25342

Experiment Methods:

Single-end sequencing.; Paired-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	18,919,715 - 18,919,775	EPDNEW

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:18684	AgrOrtholog
COSMIC	DDX49	COSMIC
Ensembl Genes	ENSG00000105671	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript	ENST00000247003	ENTREZGENE
	ENST00000247003.9	UniProtKB/Swiss-Prot
	ENST00000593361.5	UniProtKB/TrEMBL
	ENST00000594021.5	UniProtKB/TrEMBL
	ENST00000595858.5	UniProtKB/TrEMBL
	ENST00000598972.5	UniProtKB/TrEMBL
	ENST00000602113	ENTREZGENE
	ENST00000602113.5	UniProtKB/TrEMBL
	ENST00000629999.3	UniProtKB/TrEMBL
Gene3D-CATH	3.40.50.300	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx	ENSG00000105671	GTEx
HGNC ID	HGNC:18684	ENTREZGENE
Human Proteome Map	DDX49	Human Proteome Map
InterPro	DEAD/DEAH_box_helicase_dom	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	DEAD_box_RNA_helicase	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Helicase_ATP-bd	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Helicase_C	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	P-loop_NTPase	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	RNA-helicase_DEAD-box_CS	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	RNA_helicase_DEAD_Q_motif	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	hsa:54555	UniProtKB/Swiss-Prot
NCBI Gene	54555	ENTREZGENE
PANTHER	ATP-DEPENDENT RNA HELICASE RHLE-RELATED	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	RNA HELICASE	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam	DEAD	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Helicase_C	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA134956171	PharmGKB
PROSITE	DEAD_ATP_HELICASE	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	HELICASE_ATP_BIND_1	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	HELICASE_CTER	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Q_MOTIF	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART	DEXDc	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	HELICc	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP	SSF52540	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt	A8K7A1	ENTREZGENE, UniProtKB/TrEMBL
	DDX49_HUMAN	UniProtKB/Swiss-Prot
	E7ENA0	ENTREZGENE
	M0QXD4_HUMAN	UniProtKB/TrEMBL
	M0QZC0_HUMAN	UniProtKB/TrEMBL
	M0R0K1_HUMAN	UniProtKB/TrEMBL
	M0R1S3_HUMAN	UniProtKB/TrEMBL
	Q53FJ1	ENTREZGENE
	Q9BVQ8	ENTREZGENE
	Q9Y6V7	ENTREZGENE
UniProt Secondary	E7ENA0	UniProtKB/Swiss-Prot
	Q53FJ1	UniProtKB/Swiss-Prot
	Q9BVQ8	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2016-01-12	DDX49	DEAD-box helicase 49		DEAD (Asp-Glu-Ala-Asp) box polypeptide 49	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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Imported Disease Annotations - ClinVar