CCDC9 (coiled-coil domain containing 9)

Gene: CCDC9 (coiled-coil domain containing 9) Homo sapiens

Analyze

Symbol:

CCDC9

Name:

coiled-coil domain containing 9

RGD ID:

1348427

HGNC Page

HGNC:24560

Description:

Enables RNA binding activity. Part of exon-exon junction complex.

Type:

protein-coding

RefSeq Status:

VALIDATED

Previously known as:

coiled-coil domain-containing protein 9; DKFZp586M1019

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	19	47,256,525 - 47,275,723 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	19	47,255,980 - 47,273,701 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	19	47,759,782 - 47,775,210 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	19	52,451,632 - 52,467,050 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	19	52,451,631 - 52,467,048	NCBI
Celera	19	44,563,607 - 44,579,090 (+)	NCBI		Celera
Cytogenetic Map	19	q13.32	NCBI
HuRef	19	44,183,863 - 44,199,356 (+)	NCBI		HuRef
CHM1_1	19	47,762,046 - 47,777,532 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	19	50,081,834 - 50,097,265 (+)	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

1,2-dimethylhydrazine (ISO)

17alpha-ethynylestradiol (ISO)

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

4,4'-diaminodiphenylmethane (ISO)

4,4'-sulfonyldiphenol (ISO)

acrylamide (EXP,ISO)

all-trans-retinoic acid (EXP)

amiodarone (EXP)

benzo[a]pyrene (EXP)

bisphenol A (ISO)

cadmium atom (ISO)

cadmium dichloride (ISO)

caffeine (EXP)

choline (ISO)

cisplatin (EXP)

coumarin (EXP)

cyclosporin A (EXP)

dextran sulfate (ISO)

doxorubicin (EXP)

epoxiconazole (ISO)

folic acid (ISO)

FR900359 (EXP)

gentamycin (ISO)

hexadecanoic acid (EXP)

ivermectin (EXP)

L-methionine (ISO)

Licochalcone B (EXP)

ozone (EXP,ISO)

paracetamol (ISO)

perfluorooctane-1-sulfonic acid (ISO)

sodium arsenite (EXP)

thioacetamide (ISO)

urethane (EXP)

valproic acid (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Cellular Component

exon-exon junction complex (IDA)

Molecular Function

protein binding (IPI)

RNA binding (HDA,IDA)

References

References - curated

#	Reference Title	Reference Citation
1.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions
2.	Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.	Strausberg RL, etal., Proc Natl Acad Sci U S A. 2002 Dec 24;99(26):16899-903. Epub 2002 Dec 11.

Additional References at PubMed

PMID:11230166	PMID:11256614	PMID:15302935	PMID:15489334	PMID:16341674	PMID:20360068	PMID:21044950	PMID:22658674	PMID:22681889	PMID:23084401	PMID:26186194	PMID:26496610
PMID:27634302	PMID:27684187	PMID:28514442	PMID:29395067	PMID:29656893	PMID:30196744	PMID:30575818	PMID:30942445	PMID:31502483	PMID:32814053	PMID:33742100	PMID:33845483
PMID:33961781	PMID:33973408	PMID:34133714	PMID:34159380	PMID:34728620	PMID:35013218	PMID:35156780	PMID:35271311	PMID:35831314	PMID:35944360	PMID:36724073	PMID:37689310

Genomics

Comparative Map Data

CCDC9
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	19	47,256,525 - 47,275,723 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	19	47,255,980 - 47,273,701 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	19	47,759,782 - 47,775,210 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	19	52,451,632 - 52,467,050 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	19	52,451,631 - 52,467,048	NCBI
Celera	19	44,563,607 - 44,579,090 (+)	NCBI		Celera
Cytogenetic Map	19	q13.32	NCBI
HuRef	19	44,183,863 - 44,199,356 (+)	NCBI		HuRef
CHM1_1	19	47,762,046 - 47,777,532 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	19	50,081,834 - 50,097,265 (+)	NCBI		T2T-CHM13v2.0

Ccdc9
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	7	16,005,938 - 16,020,713 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	7	16,007,967 - 16,020,720 (-)	Ensembl		GRCm39 Ensembl
GRCm38	7	16,272,013 - 16,286,807 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	7	16,274,042 - 16,286,795 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	7	16,859,391 - 16,872,144 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	7	15,433,986 - 15,443,181 (-)	NCBI		MGSCv36	mm8
Celera	7	13,468,071 - 13,480,826 (-)	NCBI		Celera
Cytogenetic Map	7	A2	NCBI
cM Map	7	8.78	NCBI

Ccdc9
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	1	86,105,717 - 86,119,811 (-)	NCBI		GRCr8
mRatBN7.2	1	76,978,312 - 76,991,673 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	1	76,974,091 - 76,991,607 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	1	82,353,323 - 82,365,848 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	1	90,917,357 - 90,929,882 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	1	84,108,422 - 84,120,948 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	1	78,212,933 - 78,225,641 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	1	78,213,223 - 78,224,319 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	1	79,476,239 - 79,487,516 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
Celera	1	71,468,650 - 71,481,341 (-)	NCBI		Celera
Cytogenetic Map	1	q21	NCBI

Ccdc9
(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_004955574	1,190,611 - 1,203,274 (+)	NCBI	ChiLan1.0	ChiLan1.0

CCDC9
(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	53,395,742 - 53,415,703 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	19	55,265,650 - 55,285,769 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	19	44,239,002 - 44,258,129 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	19	52,897,087 - 52,914,540 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	19	52,897,092 - 52,911,731 (+)	Ensembl	panpan1.1		panPan2

CCDC9
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	1	108,705,425 - 108,719,813 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	1	108,705,658 - 108,719,411 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	1	108,186,427 - 108,200,700 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	1	109,231,054 - 109,245,032 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	1	109,231,869 - 109,244,928 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	1	108,898,264 - 108,912,553 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	1	108,542,398 - 108,556,593 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	1	109,410,798 - 109,425,091 (-)	NCBI		UU_Cfam_GSD_1.0

Ccdc9
(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_024409349	19,363,995 - 19,377,940 (+)	NCBI		HiC_Itri_2
SpeTri2.0	NW_004936664	982,539 - 995,636 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

CCDC9
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	6	53,065,345 - 53,080,985 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	6	53,065,172 - 53,080,992 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	6	48,439,156 - 48,450,831 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

CCDC9
(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	40,591,052 - 40,608,490 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	6	40,592,392 - 40,609,951 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666073	20,318,997 - 20,335,763 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Ccdc9
(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_004624832	6,441,420 - 6,451,705 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in CCDC9
70 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 19q13.32-13.33(chr19:46658791-49050450)x3	copy number gain	See cases [RCV000052913]	Chr19:46658791..49050450 [GRCh38] Chr19:47162048..49553707 [GRCh37] Chr19:51853888..54245519 [NCBI36] Chr19:19q13.32-13.33	pathogenic
GRCh38/hg38 19q13.32-13.33(chr19:46458122-47683579)x1	copy number loss	See cases [RCV000053976]	Chr19:46458122..47683579 [GRCh38] Chr19:46961379..48186836 [GRCh37] Chr19:51653219..52878648 [NCBI36] Chr19:19q13.32-13.33	pathogenic
GRCh38/hg38 19q13.32-13.33(chr19:44971420-48257402)x3	copy number gain	See cases [RCV000136578]	Chr19:44971420..48257402 [GRCh38] Chr19:45474677..48760659 [GRCh37] Chr19:50166517..53452471 [NCBI36] Chr19:19q13.32-13.33	pathogenic
GRCh38/hg38 19q13.32-13.33(chr19:47253630-47744714)x3	copy number gain	See cases [RCV000138849]	Chr19:47253630..47744714 [GRCh38] Chr19:47756887..48247971 [GRCh37] Chr19:52448727..52939783 [NCBI36] Chr19:19q13.32-13.33	likely benign
NM_015603.3(CCDC9):c.649C>T (p.Arg217Cys)	single nucleotide variant	not specified [RCV004296059]	Chr19:47264875 [GRCh38] Chr19:47768132 [GRCh37] Chr19:19q13.32	uncertain significance
GRCh37/hg19 19q13.32(chr19:47228251-47867279)x3	copy number gain	not provided [RCV000585171]	Chr19:47228251..47867279 [GRCh37] Chr19:19q13.32	uncertain significance
GRCh37/hg19 19q13.32(chr19:47567615-47856225)x3	copy number gain	See cases [RCV000447005]	Chr19:47567615..47856225 [GRCh37] Chr19:19q13.32	uncertain significance
GRCh37/hg19 19q13.32(chr19:46918881-47782258)x3	copy number gain	See cases [RCV000446734]	Chr19:46918881..47782258 [GRCh37] Chr19:19q13.32	uncertain significance
GRCh37/hg19 19q13.32(chr19:47450549-47880338)x3	copy number gain	See cases [RCV000447405]	Chr19:47450549..47880338 [GRCh37] Chr19:19q13.32	likely pathogenic
GRCh37/hg19 19q13.32-13.33(chr19:46404248-48488721)x1	copy number loss	See cases [RCV000511362]	Chr19:46404248..48488721 [GRCh37] Chr19:19q13.32-13.33	likely pathogenic
NM_015603.3(CCDC9):c.694C>T (p.Arg232Cys)	single nucleotide variant	not specified [RCV004330253]	Chr19:47264920 [GRCh38] Chr19:47768177 [GRCh37] Chr19:19q13.32	uncertain significance
NM_015603.3(CCDC9):c.728G>A (p.Arg243Gln)	single nucleotide variant	not specified [RCV004318069]	Chr19:47266618 [GRCh38] Chr19:47769875 [GRCh37] Chr19:19q13.32	uncertain significance
NM_178511.6(INAFM1):c.8G>A (p.Gly3Glu)	single nucleotide variant	not specified [RCV004293887]	Chr19:47274927 [GRCh38] Chr19:47778184 [GRCh37] Chr19:19q13.32	uncertain significance
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 19p13.3-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(chr19:260912-59097160)x3	copy number gain	not provided [RCV000752444]	Chr19:260912..59097160 [GRCh37] Chr19:19p13.3-q13.43	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 19q13.31-13.42(chr19:44738088-53621561)x3	copy number gain	not provided [RCV001007050]	Chr19:44738088..53621561 [GRCh37] Chr19:19q13.31-13.42	pathogenic
GRCh37/hg19 19q13.32-13.33(chr19:47036361-48525536)	copy number gain	not provided [RCV000767770]	Chr19:47036361..48525536 [GRCh37] Chr19:19q13.32-13.33	pathogenic
GRCh37/hg19 19q13.32-13.33(chr19:45531056-48174177)x3	copy number gain	not provided [RCV001007051]	Chr19:45531056..48174177 [GRCh37] Chr19:19q13.32-13.33	uncertain significance
GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	copy number gain	not provided [RCV000845733]	Chr19:28271106..49213832 [GRCh37] Chr19:19q11-13.33	pathogenic
GRCh37/hg19 19q13.32-13.33(chr19:47028919-48185409)	copy number gain	Coffin-Siris syndrome 12 [RCV003232036]	Chr19:47028919..48185409 [GRCh37] Chr19:19q13.32-13.33	likely pathogenic
GRCh37/hg19 19q13.32-13.33(chr19:47331662-48234260)x3	copy number gain	not provided [RCV001007053]	Chr19:47331662..48234260 [GRCh37] Chr19:19q13.32-13.33	uncertain significance
GRCh37/hg19 19q13.32(chr19:46918881-47782258)	copy number gain	not specified [RCV002052687]	Chr19:46918881..47782258 [GRCh37] Chr19:19q13.32	uncertain significance
NM_015603.3(CCDC9):c.304C>T (p.Arg102Trp)	single nucleotide variant	not specified [RCV004324166]	Chr19:47260681 [GRCh38] Chr19:47763938 [GRCh37] Chr19:19q13.32	uncertain significance
NM_015603.3(CCDC9):c.637C>T (p.Arg213Trp)	single nucleotide variant	not specified [RCV004333967]	Chr19:47264863 [GRCh38] Chr19:47768120 [GRCh37] Chr19:19q13.32	uncertain significance
NM_015603.3(CCDC9):c.1264G>A (p.Glu422Lys)	single nucleotide variant	not specified [RCV004238421]	Chr19:47271346 [GRCh38] Chr19:47774603 [GRCh37] Chr19:19q13.32	uncertain significance
NM_015603.3(CCDC9):c.196G>A (p.Val66Met)	single nucleotide variant	not specified [RCV004106782]	Chr19:47260408 [GRCh38] Chr19:47763665 [GRCh37] Chr19:19q13.32	likely benign
NM_178511.6(INAFM1):c.239C>G (p.Pro80Arg)	single nucleotide variant	not specified [RCV004186133]	Chr19:47275158 [GRCh38] Chr19:47778415 [GRCh37] Chr19:19q13.32	uncertain significance
NM_178511.6(INAFM1):c.157C>T (p.Leu53Phe)	single nucleotide variant	not specified [RCV004106384]	Chr19:47275076 [GRCh38] Chr19:47778333 [GRCh37] Chr19:19q13.32	uncertain significance
NM_015603.3(CCDC9):c.1289A>G (p.Asp430Gly)	single nucleotide variant	not specified [RCV004192833]	Chr19:47271371 [GRCh38] Chr19:47774628 [GRCh37] Chr19:19q13.32	uncertain significance
NM_015603.3(CCDC9):c.433G>A (p.Asp145Asn)	single nucleotide variant	not specified [RCV004220351]	Chr19:47260810 [GRCh38] Chr19:47764067 [GRCh37] Chr19:19q13.32	uncertain significance
NM_015603.3(CCDC9):c.1196C>G (p.Pro399Arg)	single nucleotide variant	not specified [RCV004084838]	Chr19:47271278 [GRCh38] Chr19:47774535 [GRCh37] Chr19:19q13.32	uncertain significance
NM_178511.6(INAFM1):c.356A>G (p.Asp119Gly)	single nucleotide variant	not specified [RCV004237493]	Chr19:47275275 [GRCh38] Chr19:47778532 [GRCh37] Chr19:19q13.32	uncertain significance
NM_015603.3(CCDC9):c.98G>A (p.Arg33Gln)	single nucleotide variant	not specified [RCV004156095]	Chr19:47258653 [GRCh38] Chr19:47761910 [GRCh37] Chr19:19q13.32	uncertain significance
NM_015603.3(CCDC9):c.622T>A (p.Ser208Thr)	single nucleotide variant	not specified [RCV004079117]	Chr19:47264848 [GRCh38] Chr19:47768105 [GRCh37] Chr19:19q13.32	uncertain significance
NM_015603.3(CCDC9):c.1357C>T (p.Pro453Ser)	single nucleotide variant	not specified [RCV004129337]	Chr19:47271439 [GRCh38] Chr19:47774696 [GRCh37] Chr19:19q13.32	uncertain significance
NM_015603.3(CCDC9):c.610C>T (p.Pro204Ser)	single nucleotide variant	not specified [RCV004084496]	Chr19:47264836 [GRCh38] Chr19:47768093 [GRCh37] Chr19:19q13.32	uncertain significance
NM_178511.6(INAFM1):c.218C>T (p.Ser73Phe)	single nucleotide variant	not specified [RCV004191797]	Chr19:47275137 [GRCh38] Chr19:47778394 [GRCh37] Chr19:19q13.32	uncertain significance
NM_015603.3(CCDC9):c.251C>T (p.Pro84Leu)	single nucleotide variant	not specified [RCV004161293]	Chr19:47260628 [GRCh38] Chr19:47763885 [GRCh37] Chr19:19q13.32	uncertain significance
NM_178511.6(INAFM1):c.145G>A (p.Val49Met)	single nucleotide variant	not specified [RCV004100597]	Chr19:47275064 [GRCh38] Chr19:47778321 [GRCh37] Chr19:19q13.32	uncertain significance
NM_015603.3(CCDC9):c.754A>G (p.Met252Val)	single nucleotide variant	not specified [RCV004115692]	Chr19:47266644 [GRCh38] Chr19:47769901 [GRCh37] Chr19:19q13.32	uncertain significance
NM_015603.3(CCDC9):c.1302G>C (p.Glu434Asp)	single nucleotide variant	not specified [RCV004139667]	Chr19:47271384 [GRCh38] Chr19:47774641 [GRCh37] Chr19:19q13.32	uncertain significance
NM_015603.3(CCDC9):c.1438C>T (p.Pro480Ser)	single nucleotide variant	not specified [RCV004206027]	Chr19:47271520 [GRCh38] Chr19:47774777 [GRCh37] Chr19:19q13.32	uncertain significance
NM_015603.3(CCDC9):c.1091A>G (p.His364Arg)	single nucleotide variant	not specified [RCV004221941]	Chr19:47271087 [GRCh38] Chr19:47774344 [GRCh37] Chr19:19q13.32	uncertain significance
NM_015603.3(CCDC9):c.973C>T (p.Pro325Ser)	single nucleotide variant	not specified [RCV004236766]	Chr19:47270576 [GRCh38] Chr19:47773833 [GRCh37] Chr19:19q13.32	uncertain significance
NM_015603.3(CCDC9):c.382C>T (p.Arg128Cys)	single nucleotide variant	not specified [RCV004201520]	Chr19:47260759 [GRCh38] Chr19:47764016 [GRCh37] Chr19:19q13.32	uncertain significance
NM_015603.3(CCDC9):c.305G>A (p.Arg102Gln)	single nucleotide variant	not specified [RCV004140847]	Chr19:47260682 [GRCh38] Chr19:47763939 [GRCh37] Chr19:19q13.32	uncertain significance
NM_178511.6(INAFM1):c.230C>G (p.Ala77Gly)	single nucleotide variant	not specified [RCV004176756]	Chr19:47275149 [GRCh38] Chr19:47778406 [GRCh37] Chr19:19q13.32	uncertain significance
NM_015603.3(CCDC9):c.1175A>G (p.Lys392Arg)	single nucleotide variant	not specified [RCV004203870]	Chr19:47271171 [GRCh38] Chr19:47774428 [GRCh37] Chr19:19q13.32	uncertain significance
NM_015603.3(CCDC9):c.679G>A (p.Asp227Asn)	single nucleotide variant	not specified [RCV004226936]	Chr19:47264905 [GRCh38] Chr19:47768162 [GRCh37] Chr19:19q13.32	uncertain significance
NM_015603.3(CCDC9):c.1495G>A (p.Val499Met)	single nucleotide variant	not specified [RCV004160418]	Chr19:47271577 [GRCh38] Chr19:47774834 [GRCh37] Chr19:19q13.32	uncertain significance
NM_015603.3(CCDC9):c.274G>C (p.Gly92Arg)	single nucleotide variant	not specified [RCV004207942]	Chr19:47260651 [GRCh38] Chr19:47763908 [GRCh37] Chr19:19q13.32	uncertain significance
NM_015603.3(CCDC9):c.985A>G (p.Thr329Ala)	single nucleotide variant	not specified [RCV004092136]	Chr19:47270588 [GRCh38] Chr19:47773845 [GRCh37] Chr19:19q13.32	uncertain significance
NM_015603.3(CCDC9):c.293A>G (p.Gln98Arg)	single nucleotide variant	not specified [RCV004208298]	Chr19:47260670 [GRCh38] Chr19:47763927 [GRCh37] Chr19:19q13.32	uncertain significance
NM_015603.3(CCDC9):c.1408C>T (p.Pro470Ser)	single nucleotide variant	not specified [RCV004103305]	Chr19:47271490 [GRCh38] Chr19:47774747 [GRCh37] Chr19:19q13.32	uncertain significance
NM_178511.6(INAFM1):c.260C>T (p.Ala87Val)	single nucleotide variant	not specified [RCV004220085]	Chr19:47275179 [GRCh38] Chr19:47778436 [GRCh37] Chr19:19q13.32	uncertain significance
NM_015603.3(CCDC9):c.1460C>T (p.Ser487Phe)	single nucleotide variant	not specified [RCV004098606]	Chr19:47271542 [GRCh38] Chr19:47774799 [GRCh37] Chr19:19q13.32	uncertain significance
NM_015603.3(CCDC9):c.64G>A (p.Glu22Lys)	single nucleotide variant	not specified [RCV004277760]	Chr19:47258619 [GRCh38] Chr19:47761876 [GRCh37] Chr19:19q13.32	uncertain significance
NM_015603.3(CCDC9):c.1219C>T (p.Arg407Trp)	single nucleotide variant	not specified [RCV004261604]	Chr19:47271301 [GRCh38] Chr19:47774558 [GRCh37] Chr19:19q13.32	uncertain significance
NM_015603.3(CCDC9):c.1099C>T (p.Arg367Cys)	single nucleotide variant	not specified [RCV004266658]	Chr19:47271095 [GRCh38] Chr19:47774352 [GRCh37] Chr19:19q13.32	uncertain significance
NM_178511.6(INAFM1):c.149A>G (p.Tyr50Cys)	single nucleotide variant	not specified [RCV004256319]	Chr19:47275068 [GRCh38] Chr19:47778325 [GRCh37] Chr19:19q13.32	uncertain significance
NM_015603.3(CCDC9):c.451C>T (p.Arg151Cys)	single nucleotide variant	not specified [RCV004262869]	Chr19:47260828 [GRCh38] Chr19:47764085 [GRCh37] Chr19:19q13.32	uncertain significance
NM_015603.3(CCDC9):c.1253G>A (p.Gly418Glu)	single nucleotide variant	not specified [RCV004269469]	Chr19:47271335 [GRCh38] Chr19:47774592 [GRCh37] Chr19:19q13.32	uncertain significance
NM_178511.6(INAFM1):c.350A>G (p.Tyr117Cys)	single nucleotide variant	not specified [RCV004280217]	Chr19:47275269 [GRCh38] Chr19:47778526 [GRCh37] Chr19:19q13.32	uncertain significance
NM_015603.3(CCDC9):c.196G>C (p.Val66Leu)	single nucleotide variant	not specified [RCV004319954]	Chr19:47260408 [GRCh38] Chr19:47763665 [GRCh37] Chr19:19q13.32	uncertain significance
NM_178511.6(INAFM1):c.251C>G (p.Pro84Arg)	single nucleotide variant	not specified [RCV004248268]	Chr19:47275170 [GRCh38] Chr19:47778427 [GRCh37] Chr19:19q13.32	uncertain significance
NM_015603.3(CCDC9):c.452G>A (p.Arg151His)	single nucleotide variant	not specified [RCV004273953]	Chr19:47260829 [GRCh38] Chr19:47764086 [GRCh37] Chr19:19q13.32	uncertain significance
NM_015603.3(CCDC9):c.652C>T (p.Arg218Trp)	single nucleotide variant	not specified [RCV004272683]	Chr19:47264878 [GRCh38] Chr19:47768135 [GRCh37] Chr19:19q13.32	uncertain significance
NM_178511.6(INAFM1):c.371C>T (p.Pro124Leu)	single nucleotide variant	not specified [RCV004286874]	Chr19:47275290 [GRCh38] Chr19:47778547 [GRCh37] Chr19:19q13.32	likely benign
NM_178511.6(INAFM1):c.14G>C (p.Ser5Thr)	single nucleotide variant	not specified [RCV004272871]	Chr19:47274933 [GRCh38] Chr19:47778190 [GRCh37] Chr19:19q13.32	uncertain significance
NM_015603.3(CCDC9):c.313A>G (p.Met105Val)	single nucleotide variant	not specified [RCV004291016]	Chr19:47260690 [GRCh38] Chr19:47763947 [GRCh37] Chr19:19q13.32	uncertain significance
NM_015603.3(CCDC9):c.1030C>T (p.Arg344Cys)	single nucleotide variant	not specified [RCV004299281]	Chr19:47270633 [GRCh38] Chr19:47773890 [GRCh37] Chr19:19q13.32	uncertain significance
GRCh38/hg38 19q13.32-13.33(chr19:47257435-47886413)x1	copy number loss	Cone-rod dystrophy 2 [RCV003327689]	Chr19:47257435..47886413 [GRCh38] Chr19:19q13.32-13.33	uncertain significance
NM_015603.3(CCDC9):c.148G>A (p.Val50Ile)	single nucleotide variant	not specified [RCV004363473]	Chr19:47260360 [GRCh38] Chr19:47763617 [GRCh37] Chr19:19q13.32	uncertain significance
NM_178511.6(INAFM1):c.139C>G (p.Leu47Val)	single nucleotide variant	not specified [RCV004361167]	Chr19:47275058 [GRCh38] Chr19:47778315 [GRCh37] Chr19:19q13.32	uncertain significance
NM_015603.3(CCDC9):c.1046G>A (p.Ser349Asn)	single nucleotide variant	not specified [RCV004338301]	Chr19:47270649 [GRCh38] Chr19:47773906 [GRCh37] Chr19:19q13.32	uncertain significance
NM_015603.3(CCDC9):c.1236G>A (p.Glu412=)	single nucleotide variant	not provided [RCV003425274]	Chr19:47271318 [GRCh38] Chr19:47774575 [GRCh37] Chr19:19q13.32	likely benign
NC_000019.10:g.47273406G>A	single nucleotide variant	not provided [RCV003415334]	Chr19:47273406 [GRCh38] Chr19:47776663 [GRCh37] Chr19:19q13.32	likely benign
NC_000019.10:g.47272131G>A	single nucleotide variant	not provided [RCV003407043]	Chr19:47272131 [GRCh38] Chr19:47775388 [GRCh37] Chr19:19q13.32	likely benign
NM_015603.3(CCDC9):c.1385G>A (p.Cys462Tyr)	single nucleotide variant	not specified [RCV004430433]	Chr19:47271467 [GRCh38] Chr19:47774724 [GRCh37] Chr19:19q13.32	uncertain significance
NM_015603.3(CCDC9):c.315G>A (p.Met105Ile)	single nucleotide variant	not specified [RCV004430435]	Chr19:47260692 [GRCh38] Chr19:47763949 [GRCh37] Chr19:19q13.32	uncertain significance
NM_015603.3(CCDC9):c.329G>A (p.Arg110His)	single nucleotide variant	not specified [RCV004430436]	Chr19:47260706 [GRCh38] Chr19:47763963 [GRCh37] Chr19:19q13.32	uncertain significance
NM_015603.3(CCDC9):c.1364C>T (p.Ala455Val)	single nucleotide variant	not specified [RCV004430432]	Chr19:47271446 [GRCh38] Chr19:47774703 [GRCh37] Chr19:19q13.32	uncertain significance
NM_015603.3(CCDC9):c.1315G>C (p.Glu439Gln)	single nucleotide variant	not specified [RCV004430431]	Chr19:47271397 [GRCh38] Chr19:47774654 [GRCh37] Chr19:19q13.32	uncertain significance
NM_015603.3(CCDC9):c.434A>G (p.Asp145Gly)	single nucleotide variant	not specified [RCV004430437]	Chr19:47260811 [GRCh38] Chr19:47764068 [GRCh37] Chr19:19q13.32	uncertain significance
NM_015603.3(CCDC9):c.628C>T (p.Arg210Trp)	single nucleotide variant	not specified [RCV004430439]	Chr19:47264854 [GRCh38] Chr19:47768111 [GRCh37] Chr19:19q13.32	uncertain significance
NM_015603.3(CCDC9):c.725G>A (p.Arg242His)	single nucleotide variant	not specified [RCV004430440]	Chr19:47266615 [GRCh38] Chr19:47769872 [GRCh37] Chr19:19q13.32	uncertain significance
NM_178511.6(INAFM1):c.364C>T (p.Arg122Cys)	single nucleotide variant	not specified [RCV004397947]	Chr19:47275283 [GRCh38] Chr19:47778540 [GRCh37] Chr19:19q13.32	uncertain significance
NM_178511.6(INAFM1):c.94C>G (p.Pro32Ala)	single nucleotide variant	not specified [RCV004397949]	Chr19:47275013 [GRCh38] Chr19:47778270 [GRCh37] Chr19:19q13.32	uncertain significance
NM_015603.3(CCDC9):c.44C>T (p.Ala15Val)	single nucleotide variant	not specified [RCV004430438]	Chr19:47258599 [GRCh38] Chr19:47761856 [GRCh37] Chr19:19q13.32	uncertain significance
NM_015603.3(CCDC9):c.1075A>G (p.Arg359Gly)	single nucleotide variant	not specified [RCV004430430]	Chr19:47270678 [GRCh38] Chr19:47773935 [GRCh37] Chr19:19q13.32	uncertain significance
NM_015603.3(CCDC9):c.1535G>A (p.Arg512Gln)	single nucleotide variant	not specified [RCV004430434]	Chr19:47271617 [GRCh38] Chr19:47774874 [GRCh37] Chr19:19q13.32	uncertain significance
NM_178511.6(INAFM1):c.133G>A (p.Val45Met)	single nucleotide variant	not specified [RCV004397945]	Chr19:47275052 [GRCh38] Chr19:47778309 [GRCh37] Chr19:19q13.32	uncertain significance
NM_178511.6(INAFM1):c.290T>C (p.Leu97Pro)	single nucleotide variant	not specified [RCV004397946]	Chr19:47275209 [GRCh38] Chr19:47778466 [GRCh37] Chr19:19q13.32	uncertain significance
NM_178511.6(INAFM1):c.377G>T (p.Arg126Leu)	single nucleotide variant	not specified [RCV004397948]	Chr19:47275296 [GRCh38] Chr19:47778553 [GRCh37] Chr19:19q13.32	uncertain significance
NM_015603.3(CCDC9):c.1370C>T (p.Pro457Leu)	single nucleotide variant	not specified [RCV004363291]	Chr19:47271452 [GRCh38] Chr19:47774709 [GRCh37] Chr19:19q13.32	uncertain significance
NM_015603.3(CCDC9):c.1409C>T (p.Pro470Leu)	single nucleotide variant	not specified [RCV004334900]	Chr19:47271491 [GRCh38] Chr19:47774748 [GRCh37] Chr19:19q13.32	uncertain significance
NM_178511.6(INAFM1):c.380A>G (p.Gln127Arg)	single nucleotide variant	not specified [RCV004336808]	Chr19:47275299 [GRCh38] Chr19:47778556 [GRCh37] Chr19:19q13.32	uncertain significance

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	2175
Count of miRNA genes:	747
Interacting mature miRNAs:	913
Transcripts:	ENST00000221922, ENST00000595659, ENST00000596938, ENST00000599398, ENST00000600117, ENST00000601154
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.

Markers in Region

CCDC9_9457

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	19	47,774,603 - 47,775,217	UniSTS	GRCh37
Build 36	19	52,466,443 - 52,467,057	RGD	NCBI36
Celera	19	44,578,479 - 44,579,097	RGD
HuRef	19	44,198,745 - 44,199,363	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

entire extraembryonic component

High

Medium

2388

2323

1469

384

1744

232

4104

1585

1741

319

1431

1584

166

1194

2546

Low

661

254

238

202

232

251

608

1967

242

Below cutoff

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_015603	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_017026578	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047438580	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047438581	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047438582	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047438583	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047438584	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047438585	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047438586	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054320495	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054320496	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AC008532	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK302153	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL050284	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC002787	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC009743	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BM737911	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471126	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068259	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CR977312	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

RefSeq Acc Id:

ENST00000221922 ⟹ ENSP00000221922

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	47,256,525 - 47,271,953 (+)	Ensembl

RefSeq Acc Id:

ENST00000595659 ⟹ ENSP00000470706

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	47,257,540 - 47,260,382 (+)	Ensembl

RefSeq Acc Id:

ENST00000596938 ⟹ ENSP00000472843

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	47,258,089 - 47,260,357 (+)	Ensembl

RefSeq Acc Id:

ENST00000599398 ⟹ ENSP00000469717

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	47,257,532 - 47,260,762 (+)	Ensembl

RefSeq Acc Id:

ENST00000600117

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	47,266,295 - 47,270,587 (+)	Ensembl

RefSeq Acc Id:

ENST00000601154

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	47,255,980 - 47,256,597 (+)	Ensembl

RefSeq Acc Id:

ENST00000643617 ⟹ ENSP00000494410

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	47,256,523 - 47,273,701 (+)	Ensembl

RefSeq Acc Id:

NM_015603 ⟹ NP_056418

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	47,256,525 - 47,271,953 (+)	NCBI
GRCh37	19	47,759,731 - 47,777,329 (+)	NCBI
Build 36	19	52,451,632 - 52,467,050 (+)	NCBI Archive
Celera	19	44,563,607 - 44,579,090 (+)	RGD
HuRef	19	44,183,863 - 44,199,356 (+)	RGD
CHM1_1	19	47,762,046 - 47,777,532 (+)	NCBI
T2T-CHM13v2.0	19	50,081,834 - 50,097,265 (+)	NCBI

Sequence:

show sequence

AGGAAGTGACGCGCCTGGCCCGGGAGCTGCGGTCGCAGAGGCCGACGGAGCCGGAGTCGCGGAC
GCCGCGGGGTCTCCGGGACAGGAACCCTCAGTGCTGCGTCTAGATTCTGCAGGGGAGGTTTGCT
GGGACCTTGGCTCCACGCAGCCAGCGAAATGGCAGCCACACTCGATTTGAAATCAAAGGAGGAG
AAGGATGCTGAGTTGGACAAGAGGATCGAGGCTCTTCGGCGGAAGAATGAGGCCCTCATCCGGC
GCTACCAGGAGATTGAGGAAGACCGTAAGAAAGCTGAACTTGAGGGAGTCGCAGTCACAGCTCC
CCGAAAGGGCCGCTCAGTGGAGAAGGAGAACGTGGCAGTGGAGTCGGAGAAGAACCTGGGTCCT
TCCCGGAGGTCTCCTGGGACCCCTCGGCCCCCAGGGGCCAGCAAGGGGGGCCGGACTCCTCCAC
AGCAGGGAGGCCGGGCCGGCATGGGCCGAGCATCGCGCAGCTGGGAGGGCAGCCCCGGGGAGCA
GCCTCGAGGAGGAGGAGCTGGGGGCCGTGGCCGGAGGGGCCGGGGCCGAGGTTCACCTCACCTC
TCTGGAGCTGGAGACACCTCAATCTCTGACCGTAAATCCAAGGAGTGGGAGGAGCGGCGCAGGC
AGAACATTGAGAAGATGAATGAGGAGATGGAGAAGATCGCCGAGTATGAGCGCAACCAGCGGGA
AGGGGTTCTTGAACCCAACCCAGTGCGGAACTTCCTGGACGACCCCCGGCGACGCAGCGGGCCC
CTGGAGGAGTCTGAGCGGGACCGCCGGGAGGAGAGCCGCCGGCACGGCCGCAACTGGGGGGGCC
CCGACTTCGAGCGGGTGCGCTGTGGCCTTGAGCACGAGCGGCAGGGCCGCCGAGCTGGCCTGGG
CAGTGCTGGAGACATGACGTTGTCCATGACGGGCCGGGAGCGGTCGGAGTACCTGCGCTGGAAG
CAGGAGAGGGAGAAGATCGACCAGGAGCGGCTGCAGAGGCACCGCAAGCCCACTGGCCAGTGGA
GGCGCGAGTGGGATGCCGAGAAGACCGATGGGATGTTCAAGGATGGCCCAGTCCCTGCCCATGA
ACCATCCCACCGCTATGATGACCAGGCCTGGGCCCGGCCCCCGAAGCCCCCTACTTTTGGGGAG
TTCCTGTCCCAGCACAAAGCTGAGGCCAGCAGCCGCAGAAGGAGAAAGAGCAGTCGGCCCCAGG
CCAAGGCAGCGCCCAGGGCCTACAGTGACCATGATGACCGCTGGGAGACAAAAGAAGGGGCAGC
ATCCCCAGCCCCTGAGACTCCACAGCCTACTTCCCCCGAGACTTCCCCCAAGGAGACACCCATG
CAGCCACCCGAGATCCCAGCTCCTGCCCACCGGCCTCCTGAAGACGAGGGGGAAGAGAATGAGG
GGGAAGAGGATGAAGAATGGGAGGACATAAGTGAGGATGAGGAAGAGGAGGAGATCGAGGTGGA
AGAAGGTGATGAGGAGGAACCAGCCCAAGACCACCAAGCCCCAGAGGCTGCCCCCACCGGGATC
CCCTGCAGTGAGCAGGCCCACGGAGTCCCCTTCAGTCCGGAGGAGCCCCTGCTGGAGCCCCAGG
CCCCTGGCACGCCTTCCAGCCCTTTCTCACCACCCAGCGGCCACCAGCCTGTGTCCGATTGGGG
TGAAGAGGTGGAGCTGAATTCTCCCCGGACCACTCACCTGGCTGGCGCCCTCTCCCCGGGTGAG
GCCTGGCCTTTTGAGAGTGTATGAAGCTGGCTGCCTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
GTGTGTGTGTGTGTGCGCGCGCGCGCGCGCGCGCGCGCGCGCTAGAGGGGTGTGGCTGGTGGGG
GACCCTTGGGGCTGGGCCCTGGGACCCAGTGTGCCCCACAGCCCTGTCAGCTGAGGGGGTAGCG
CAGCCCATGCTCTTCTGTACTGTCATGCCCGTCTCTGGAATGTCCACTCCCAGAGCCTGCCCCA
GCCCTTCGAGCCCCCTCCCCAATAAAGAATTCACATCCTCCAA

hide sequence

RefSeq Acc Id:

XM_017026578 ⟹ XP_016882067

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	47,257,497 - 47,271,953 (+)	NCBI

Sequence:

show sequence

CGAGCCGTGGGCGGGGCCAGAGCGGTTTCCAGGATGTCGGGGACGTGGCCCTGGCATTCCCAGC
CGGATTGAGGCTGGAGCTTTGCACAGAAAATCTGGGGCGGGCCTGGGTAGTTTTGTCCTTGTTG
GGGCGGGTGGAGTATTCAGTGGGGCAAAACGCCAGTTCCAGGAAGCCTCGCCAGAACCCTCAGT
GCTGCGTCTAGATTCTGCAGGGGAGGTTTGCTGGGACCTTGGCTCCACGCAGCCAGCGAAATGG
CAGCCACACTCGATTTGAAATCAAAGGAGGAGAAGGATGCTGAGTTGGACAAGAGGATCGAGGC
TCTTCGGCGGAAGAATGAGGCCCTCATCCGGCGCTACCAGGAGATTGAGGAAGACCGTAAGAAA
GCTGAACTTGAGGGAGTCGCAGTCACAGCTCCCCGAAAGGGCCGCTCAGTGGAGAAGGAGAACG
TGGCAGTGGAGTCGGAGAAGAACCTGGGTCCTTCCCGGAGGTCTCCTGGGACCCCTCGGCCCCC
AGGGGCCAGCAAGGGGGGCCGGACTCCTCCACAGCAGGGAGGCCGGGCCGGCATGGGCCGAGCA
TCGCGCAGCTGGGAGGGCAGCCCCGGGGAGCAGCCTCGAGGAGGAGGAGCTGGGGGCCGTGGCC
GGAGGGGCCGGGGCCGAGGTTCACCTCACCTCTCTGGAGCTGGAGACACCTCAATCTCTGACCG
TAAATCCAAGGAGTGGGAGGAGCGGCGCAGGCAGAACATTGAGAAGATGAATGAGGAGATGGAG
AAGATCGCCGAGTATGAGCGCAACCAGCGGGAAGGGGTTCTTGAACCCAACCCAGTGCGGAACT
TCCTGGACGACCCCCGGCGACGCAGCGGGCCCCTGGAGGAGTCTGAGCGGGACCGCCGGGAGGA
GAGCCGCCGGCACGGCCGCAACTGGGGGGGCCCCGACTTCGAGCGGGTGCGCTGTGGCCTTGAG
CACGAGCGGCAGGGCCGCCGAGCTGGCCTGGGCAGTGCTGGAGACATGACGTTGTCCATGACGG
GCCGGGAGCGGTCGGAGTACCTGCGCTGGAAGCAGGAGAGGGAGAAGATCGACCAGGAGCGGCT
GCAGAGGCACCGCAAGCCCACTGGCCAGTGGAGGCGCGAGTGGGATGCCGAGAAGACCGATGGG
ATGTTCAAGGATGGCCCAGTCCCTGCCCATGAACCATCCCACCGCTATGATGACCAGGCCTGGG
CCCGGCCCCCGAAGCCCCCTACTTTTGGGGAGTTCCTGTCCCAGCACAAAGCTGAGGCCAGCAG
CCGCAGAAGGAGAAAGAGCAGTCGGCCCCAGGCCAAGGCAGCGCCCAGGGCCTACAGTGACCAT
GATGACCGCTGGGAGACAAAAGAAGGGGCAGCATCCCCAGCCCCTGAGACTCCACAGCCTACTT
CCCCCGAGACTTCCCCCAAGGAGACACCCATGCAGCCACCCGAGATCCCAGCTCCTGCCCACCG
GCCTCCTGAAGACGAGGGGGAAGAGAATGAGGGGGAAGAGGATGAAGAATGGGAGGACATAAGT
GAGGATGAGGAAGAGGAGGAGATCGAGGTGGAAGAAGGTGATGAGGAGGAACCAGCCCAAGACC
ACCAAGCCCCAGAGGCTGCCCCCACCGGGATCCCCTGCAGTGAGCAGGCCCACGGAGTCCCCTT
CAGTCCGGAGGAGCCCCTGCTGGAGCCCCAGGCCCCTGGCACGCCTTCCAGCCCTTTCTCACCA
CCCAGCGGCCACCAGCCTGTGTCCGATTGGGGTGAAGAGGTGGAGCTGAATTCTCCCCGGACCA
CTCACCTGGCTGGCGCCCTCTCCCCGGGTGAGGCCTGGCCTTTTGAGAGTGTATGAAGCTGGCT
GCCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGCGCGCGCGCGCGCGC
GCGCGCGCGCTAGAGGGGTGTGGCTGGTGGGGGACCCTTGGGGCTGGGCCCTGGGACCCAGTGT
GCCCCACAGCCCTGTCAGCTGAGGGGGTAGCGCAGCCCATGCTCTTCTGTACTGTCATGCCCGT
CTCTGGAATGTCCACTCCCAGAGCCTGCCCCAGCCCTTCGAGCCCCCTCCCCAATAAAGAATTC
ACATCCTCCAATGACA

hide sequence

RefSeq Acc Id:

XM_047438580 ⟹ XP_047294536

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	47,256,525 - 47,273,835 (+)	NCBI

RefSeq Acc Id:

XM_047438581 ⟹ XP_047294537

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	47,257,497 - 47,273,835 (+)	NCBI

RefSeq Acc Id:

XM_047438582 ⟹ XP_047294538

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	47,257,497 - 47,273,835 (+)	NCBI

RefSeq Acc Id:

XM_047438583 ⟹ XP_047294539

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	47,256,525 - 47,275,723 (+)	NCBI

RefSeq Acc Id:

XM_047438584 ⟹ XP_047294540

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	47,257,497 - 47,271,953 (+)	NCBI

RefSeq Acc Id:

XM_047438585 ⟹ XP_047294541

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	47,257,497 - 47,273,835 (+)	NCBI

RefSeq Acc Id:

XM_047438586 ⟹ XP_047294542

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	47,258,630 - 47,273,835 (+)	NCBI

RefSeq Acc Id:

XM_054320495 ⟹ XP_054176470

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	19	50,082,806 - 50,097,265 (+)	NCBI

RefSeq Acc Id:

XM_054320496 ⟹ XP_054176471

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	19	50,082,806 - 50,097,265 (+)	NCBI

Protein Sequences


Protein RefSeqs	NP_056418	(Get FASTA)	NCBI Sequence Viewer
	XP_016882067	(Get FASTA)	NCBI Sequence Viewer
	XP_047294536	(Get FASTA)	NCBI Sequence Viewer
	XP_047294537	(Get FASTA)	NCBI Sequence Viewer
	XP_047294538	(Get FASTA)	NCBI Sequence Viewer
	XP_047294539	(Get FASTA)	NCBI Sequence Viewer
	XP_047294540	(Get FASTA)	NCBI Sequence Viewer
	XP_047294541	(Get FASTA)	NCBI Sequence Viewer
	XP_047294542	(Get FASTA)	NCBI Sequence Viewer
	XP_054176470	(Get FASTA)	NCBI Sequence Viewer
	XP_054176471	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAH02787	(Get FASTA)	NCBI Sequence Viewer
	AAH09743	(Get FASTA)	NCBI Sequence Viewer
	BAG63524	(Get FASTA)	NCBI Sequence Viewer
	CAB43385	(Get FASTA)	NCBI Sequence Viewer
	EAW57468	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000221922
	ENSP00000221922.5
	ENSP00000469717.1
	ENSP00000470706.1
	ENSP00000472843.1
	ENSP00000494410
	ENSP00000494410.1
GenBank Protein	Q9Y3X0	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:

NP_056418 ⟸ NM_015603

- UniProtKB:

Q9Y3X0 (UniProtKB/Swiss-Prot), B4DXW2 (UniProtKB/TrEMBL)

- Sequence:

show sequence

MAATLDLKSKEEKDAELDKRIEALRRKNEALIRRYQEIEEDRKKAELEGVAVTAPRKGRSVEKE
NVAVESEKNLGPSRRSPGTPRPPGASKGGRTPPQQGGRAGMGRASRSWEGSPGEQPRGGGAGGR
GRRGRGRGSPHLSGAGDTSISDRKSKEWEERRRQNIEKMNEEMEKIAEYERNQREGVLEPNPVR
NFLDDPRRRSGPLEESERDRREESRRHGRNWGGPDFERVRCGLEHERQGRRAGLGSAGDMTLSM
TGRERSEYLRWKQEREKIDQERLQRHRKPTGQWRREWDAEKTDGMFKDGPVPAHEPSHRYDDQA
WARPPKPPTFGEFLSQHKAEASSRRRRKSSRPQAKAAPRAYSDHDDRWETKEGAASPAPETPQP
TSPETSPKETPMQPPEIPAPAHRPPEDEGEENEGEEDEEWEDISEDEEEEEIEVEEGDEEEPAQ
DHQAPEAAPTGIPCSEQAHGVPFSPEEPLLEPQAPGTPSSPFSPPSGHQPVSDWGEEVELNSPR
TTHLAGALSPGEAWPFESV

hide sequence

RefSeq Acc Id:	XP_016882067 ⟸ XM_017026578
- Peptide Label:	isoform X3
- UniProtKB:	Q9Y3X0 (UniProtKB/Swiss-Prot), B4DXW2 (UniProtKB/TrEMBL)
- Sequence:	show sequence MAATLDLKSKEEKDAELDKRIEALRRKNEALIRRYQEIEEDRKKAELEGVAVTAPRKGRSVEKE NVAVESEKNLGPSRRSPGTPRPPGASKGGRTPPQQGGRAGMGRASRSWEGSPGEQPRGGGAGGR GRRGRGRGSPHLSGAGDTSISDRKSKEWEERRRQNIEKMNEEMEKIAEYERNQREGVLEPNPVR NFLDDPRRRSGPLEESERDRREESRRHGRNWGGPDFERVRCGLEHERQGRRAGLGSAGDMTLSM TGRERSEYLRWKQEREKIDQERLQRHRKPTGQWRREWDAEKTDGMFKDGPVPAHEPSHRYDDQA WARPPKPPTFGEFLSQHKAEASSRRRRKSSRPQAKAAPRAYSDHDDRWETKEGAASPAPETPQP TSPETSPKETPMQPPEIPAPAHRPPEDEGEENEGEEDEEWEDISEDEEEEEIEVEEGDEEEPAQ DHQAPEAAPTGIPCSEQAHGVPFSPEEPLLEPQAPGTPSSPFSPPSGHQPVSDWGEEVELNSPR TTHLAGALSPGEAWPFESV hide sequence

RefSeq Acc Id:

ENSP00000470706 ⟸ ENST00000595659

RefSeq Acc Id:

ENSP00000472843 ⟸ ENST00000596938

RefSeq Acc Id:

ENSP00000469717 ⟸ ENST00000599398

RefSeq Acc Id:

ENSP00000221922 ⟸ ENST00000221922

RefSeq Acc Id:

ENSP00000494410 ⟸ ENST00000643617

RefSeq Acc Id:	XP_047294539 ⟸ XM_047438583
- Peptide Label:	isoform X2

RefSeq Acc Id:	XP_047294536 ⟸ XM_047438580
- Peptide Label:	isoform X1
- UniProtKB:	A0A2R8Y4Z8 (UniProtKB/TrEMBL)

RefSeq Acc Id:	XP_047294538 ⟸ XM_047438582
- Peptide Label:	isoform X1
- UniProtKB:	A0A2R8Y4Z8 (UniProtKB/TrEMBL)

RefSeq Acc Id:	XP_047294537 ⟸ XM_047438581
- Peptide Label:	isoform X1
- UniProtKB:	A0A2R8Y4Z8 (UniProtKB/TrEMBL)

RefSeq Acc Id:	XP_047294541 ⟸ XM_047438585
- Peptide Label:	isoform X4

RefSeq Acc Id:	XP_047294540 ⟸ XM_047438584
- Peptide Label:	isoform X3
- UniProtKB:	Q9Y3X0 (UniProtKB/Swiss-Prot)

RefSeq Acc Id:	XP_047294542 ⟸ XM_047438586
- Peptide Label:	isoform X5

RefSeq Acc Id:	XP_054176470 ⟸ XM_054320495
- Peptide Label:	isoform X3

RefSeq Acc Id:	XP_054176471 ⟸ XM_054320496
- Peptide Label:	isoform X3

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q9Y3X0-F1-model_v2	AlphaFold	Q9Y3X0	1-531	view protein structure

Promoters

RGD ID:

13204880

Promoter ID:

EPDNEW_H26023

Type:

initiation region

Name:

CCDC9_1

Description:

coiled-coil domain containing 9

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H26024

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	47,256,525 - 47,256,585	EPDNEW

RGD ID:

13204882

Promoter ID:

EPDNEW_H26024

Type:

initiation region

Name:

CCDC9_2

Description:

coiled-coil domain containing 9

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H26023

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	47,257,497 - 47,257,557	EPDNEW

RGD ID:

6795258

Promoter ID:

HG_KWN:30375

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

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

Transcripts:

NM_015603, UC002PGH.1

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	19	52,451,309 - 52,451,809 (+)	MPROMDB

RGD ID:

6811524

Promoter ID:

HG_ACW:42055

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell, HeLa_S3, K562, Lymphoblastoid, NB4

Transcripts:

CCDC9.CAPR07, CCDC9.DAPR07, CCDC9.FAPR07

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	19	52,452,276 - 52,452,776 (+)	MPROMDB

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:24560	AgrOrtholog
COSMIC	CCDC9	COSMIC
Ensembl Genes	ENSG00000105321	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript	ENST00000221922	ENTREZGENE
	ENST00000221922.11	UniProtKB/Swiss-Prot
	ENST00000595659.5	UniProtKB/TrEMBL
	ENST00000596938.1	UniProtKB/TrEMBL
	ENST00000599398.5	UniProtKB/TrEMBL
	ENST00000643617	ENTREZGENE
	ENST00000643617.1	UniProtKB/TrEMBL
GTEx	ENSG00000105321	GTEx
HGNC ID	HGNC:24560	ENTREZGENE
Human Proteome Map	CCDC9	Human Proteome Map
InterPro	DUF4594	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	hsa:26093	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene	26093	ENTREZGENE
PANTHER	COILED-COIL DOMAIN-CONTAINING PROTEIN 9	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	PTHR15635	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam	DUF4594	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA134946561	PharmGKB
UniProt	A0A2R8Y4Z8	ENTREZGENE, UniProtKB/TrEMBL
	B4DXW2	ENTREZGENE, UniProtKB/TrEMBL
	CCDC9_HUMAN	UniProtKB/Swiss-Prot
	M0QYB4_HUMAN	UniProtKB/TrEMBL
	M0QZR0_HUMAN	UniProtKB/TrEMBL
	M0R2W0_HUMAN	UniProtKB/TrEMBL
	Q9Y3X0	ENTREZGENE

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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