CACFD1 (calcium channel flower domain containing 1)

Gene: CACFD1 (calcium channel flower domain containing 1) Homo sapiens

Analyze

Symbol:

CACFD1

Name:

calcium channel flower domain containing 1

RGD ID:

1322993

HGNC Page

HGNC:1365

Description:

Predicted to be involved in vesicle-mediated transport. Predicted to be located in several cellular components, including Golgi apparatus; cytoplasmic vesicle; and endoplasmic reticulum membrane.

Type:

protein-coding

RefSeq Status:

VALIDATED

Previously known as:

C9orf7; calcium channel flower domain-containing protein 1; calcium channel flower homolog; D9S2135; flower

RGD Orthologs

Alliance Genes

More Info

more info ...

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	9	133,459,978 - 133,470,848 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	9	133,459,965 - 133,470,848 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	9	136,325,100 - 136,335,970 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	9	135,314,952 - 135,325,706 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	9	133,354,684 - 133,365,439	NCBI
Celera	9	106,875,680 - 106,886,533 (+)	NCBI		Celera
Cytogenetic Map	9	q34.2	NCBI
HuRef	9	105,826,781 - 105,837,598 (+)	NCBI		HuRef
CHM1_1	9	136,475,590 - 136,486,412 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	9	145,674,420 - 145,685,255 (+)	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

developmental and epileptic encephalopathy 14 (IAGP)

Ehlers-Danlos syndrome classic type 1 (IAGP)

genetic disease (IAGP)

Kleefstra syndrome 1 (IAGP)

Leigh disease (IAGP)

primary coenzyme Q10 deficiency 7 (IAGP)

Rafiq syndrome (IAGP)

tuberous sclerosis 1 (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

1,2-dimethylhydrazine (ISO)

17beta-estradiol (EXP)

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

acrylamide (EXP,ISO)

benzo[a]pyrene (EXP)

bisphenol A (ISO)

butanal (EXP)

cadmium dichloride (ISO)

carbon nanotube (ISO)

cisplatin (EXP)

clofibrate (ISO)

doxorubicin (EXP)

endosulfan (ISO)

folic acid (ISO)

gallic acid (EXP)

lipopolysaccharide (EXP)

paracetamol (ISO)

perfluorooctanoic acid (EXP)

phytoestrogen (EXP)

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

tetrachloromethane (ISO)

thioacetamide (ISO)

tremolite asbestos (ISO)

triptonide (ISO)

urethane (EXP)

valproic acid (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

biological_process (ND)

vesicle-mediated transport (IBA,IEA)

Cellular Component

cellular_component (ND)

early endosome (IEA)

endoplasmic reticulum (IEA)

endoplasmic reticulum membrane (IEA)

endosome (IEA)

Golgi apparatus (IEA)

membrane (IEA)

plasma membrane (IEA)

recycling endosome (IEA)

synapse (IEA)

synaptic vesicle (IEA)

Molecular Function

molecular_function (ND)

protein binding (IPI)

References

References - curated

#	Reference Title	Reference Citation
1.	ClinVar Automated Import and Annotation Pipeline	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions

Additional References at PubMed

PMID:12477932	PMID:12975309	PMID:14702039	PMID:15164053	PMID:15489334	PMID:16303743	PMID:16344560	PMID:18940312	PMID:19737521	PMID:21516116	PMID:21873635	PMID:25416956
PMID:32296183	PMID:33961781	PMID:34864683	PMID:35748872	PMID:36629882	PMID:37348560

Genomics

Comparative Map Data

CACFD1
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	9	133,459,978 - 133,470,848 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	9	133,459,965 - 133,470,848 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	9	136,325,100 - 136,335,970 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	9	135,314,952 - 135,325,706 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	9	133,354,684 - 133,365,439	NCBI
Celera	9	106,875,680 - 106,886,533 (+)	NCBI		Celera
Cytogenetic Map	9	q34.2	NCBI
HuRef	9	105,826,781 - 105,837,598 (+)	NCBI		HuRef
CHM1_1	9	136,475,590 - 136,486,412 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	9	145,674,420 - 145,685,255 (+)	NCBI		T2T-CHM13v2.0

Cacfd1
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	2	26,899,867 - 26,911,102 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	2	26,899,938 - 26,911,101 (+)	Ensembl		GRCm39 Ensembl
GRCm38	2	27,009,855 - 27,021,090 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	2	27,009,926 - 27,021,089 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	2	26,865,486 - 26,876,609 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	2	26,831,959 - 26,843,098 (+)	NCBI		MGSCv36	mm8
Celera	2	26,722,797 - 26,723,730 (+)	NCBI		Celera
Cytogenetic Map	2	A3	NCBI
cM Map	2	19.17	NCBI

Cacfd1
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	3	30,733,958 - 30,750,237 (+)	NCBI		GRCr8
mRatBN7.2	3	10,335,881 - 10,352,437 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	3	10,335,881 - 10,343,406 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	3	13,395,897 - 13,406,703 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	3	21,981,298 - 21,992,104 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	3	20,236,599 - 20,247,405 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	3	5,555,807 - 5,571,205 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	3	5,555,807 - 5,572,064 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	3	10,917,547 - 10,932,900 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	3	5,905,478 - 5,916,284 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	3	5,908,674 - 5,917,132 (+)	NCBI
Celera	3	5,133,913 - 5,144,719 (+)	NCBI		Celera
Cytogenetic Map	3	p12	NCBI

Cacfd1
(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_004955513	2,787,099 - 2,796,132 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955513	2,787,098 - 2,796,132 (+)	NCBI	ChiLan1.0	ChiLan1.0

CACFD1
(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	11	5,882,653 - 5,893,642 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	9	5,884,989 - 5,895,983 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	9	104,582,983 - 104,593,960 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	9	133,194,490 - 133,205,686 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	9	133,194,490 - 133,205,686 (+)	Ensembl	panpan1.1		panPan2

CACFD1
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	9	49,868,218 - 49,878,254 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
Dog10K_Boxer_Tasha	9	49,148,870 - 49,159,388 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	9	50,741,637 - 50,752,154 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	9	50,741,595 - 50,752,149 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	9	49,503,703 - 49,514,206 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	9	49,845,445 - 49,855,955 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	9	49,923,585 - 49,934,115 (+)	NCBI		UU_Cfam_GSD_1.0

Cacfd1
(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_024404947	199,926,387 - 199,934,113 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936669	3,441,018 - 3,448,669 (-)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936669	3,439,174 - 3,448,637 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

CACFD1
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	1	273,056,532 - 273,066,914 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	1	273,045,620 - 273,066,916 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	1	307,030,340 - 307,040,730 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

CACFD1
(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	12	4,665,927 - 4,676,671 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	12	4,668,013 - 4,676,571 (-)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666058	312,533 - 323,324 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Cacfd1
(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_004624760	1,889,949 - 1,897,703 (+)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624760	1,889,793 - 1,897,703 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in CACFD1
13 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	copy number gain	See cases [RCV000050348]	Chr9:193412..138179445 [GRCh38] Chr9:204193..141073897 [GRCh37] Chr9:194193..140193718 [NCBI36] Chr9:9p24.3-q34.3	pathogenic
GRCh38/hg38 9q33.2-34.3(chr9:122792658-138124532)x3	copy number gain	See cases [RCV000051040]	Chr9:122792658..138124532 [GRCh38] Chr9:125554937..141018984 [GRCh37] Chr9:124594758..140138805 [NCBI36] Chr9:9q33.2-34.3	pathogenic
GRCh38/hg38 9q33.2-34.3(chr9:121112395-138075224)x3	copy number gain	See cases [RCV000051009]	Chr9:121112395..138075224 [GRCh38] Chr9:123874673..140969676 [GRCh37] Chr9:122914494..140089497 [NCBI36] Chr9:9q33.2-34.3	pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124532)x3	copy number gain	See cases [RCV000053745]	Chr9:193412..138124532 [GRCh38] Chr9:204193..141018984 [GRCh37] Chr9:194193..140138805 [NCBI36] Chr9:9p24.3-q34.3	pathogenic
GRCh38/hg38 9q34.11-34.3(chr9:129068560-136495351)x3	copy number gain	See cases [RCV000053779]	Chr9:129068560..136495351 [GRCh38] Chr9:131830839..139389803 [GRCh37] Chr9:130870660..138509624 [NCBI36] Chr9:9q34.11-34.3	pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	copy number gain	See cases [RCV000053746]	Chr9:193412..138114463 [GRCh38] Chr9:214367..141008915 [GRCh37] Chr9:204367..140128736 [NCBI36] Chr9:9p24.3-q34.3	pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]\|See cases [RCV000053748]	Chr9:193412..138179445 [GRCh38] Chr9:266045..141073897 [GRCh37] Chr9:256045..140193718 [NCBI36] Chr9:9p24.3-q34.3	pathogenic
GRCh38/hg38 9q34.13-34.2(chr9:131406683-133852779)x4	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053812]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053812]\|See cases [RCV000053812]	Chr9:131406683..133852779 [GRCh38] Chr9:134282070..136717901 [GRCh37] Chr9:133271891..135707722 [NCBI36] Chr9:9q34.13-34.2	pathogenic
GRCh38/hg38 9q33.2-34.3(chr9:121586837-138179445)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053776]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053776]\|See cases [RCV000053776]	Chr9:121586837..138179445 [GRCh38] Chr9:124349116..141073897 [GRCh37] Chr9:123388937..140193718 [NCBI36] Chr9:9q33.2-34.3	pathogenic
NM_001145099.1(SLC2A6):c.1279C>G (p.Arg427Gly)	single nucleotide variant	Malignant melanoma [RCV000068571]	Chr9:133472080 [GRCh38] Chr9:136337202 [GRCh37] Chr9:135327023 [NCBI36] Chr9:9q34.2	not provided
GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	copy number gain	See cases [RCV000133791]	Chr9:204193..138179445 [GRCh38] Chr9:204193..141073897 [GRCh37] Chr9:194193..140193718 [NCBI36] Chr9:9p24.3-q34.3	pathogenic
GRCh38/hg38 9q34.11-34.3(chr9:130513207-138124532)x3	copy number gain	See cases [RCV000133778]	Chr9:130513207..138124532 [GRCh38] Chr9:133388594..141018984 [GRCh37] Chr9:132378415..140138805 [NCBI36] Chr9:9q34.11-34.3	pathogenic
GRCh38/hg38 9q34.11-34.3(chr9:129068560-138179445)x3	copy number gain	See cases [RCV000134916]	Chr9:129068560..138179445 [GRCh38] Chr9:131830839..141073897 [GRCh37] Chr9:130870660..140193718 [NCBI36] Chr9:9q34.11-34.3	pathogenic
GRCh38/hg38 9q33.2-34.3(chr9:121073102-138179445)x3	copy number gain	See cases [RCV000134920]	Chr9:121073102..138179445 [GRCh38] Chr9:123835380..141073897 [GRCh37] Chr9:122875201..140193718 [NCBI36] Chr9:9q33.2-34.3	pathogenic
GRCh38/hg38 9q34.13-34.3(chr9:132986903-138114463)x3	copy number gain	See cases [RCV000136790]	Chr9:132986903..138114463 [GRCh38] Chr9:135862290..141008915 [GRCh37] Chr9:134852111..140128736 [NCBI36] Chr9:9q34.13-34.3	pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	copy number gain	See cases [RCV000138783]	Chr9:193412..138124524 [GRCh38] Chr9:204090..141018976 [GRCh37] Chr9:194090..140138797 [NCBI36] Chr9:9p24.3-q34.3	pathogenic
GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	copy number gain	See cases [RCV000139207]	Chr9:193412..138159073 [GRCh38] Chr9:68420641..141053525 [GRCh37] Chr9:67910461..140173346 [NCBI36] Chr9:9p11.2-q34.3	pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	copy number gain	See cases [RCV000138962]	Chr9:193412..138159073 [GRCh38] Chr9:204104..141053525 [GRCh37] Chr9:194104..140173346 [NCBI36] Chr9:9p24.3-q34.3	pathogenic\|conflicting data from submitters
GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	copy number gain	See cases [RCV000141876]	Chr9:203861..138125937 [GRCh38] Chr9:203861..141020389 [GRCh37] Chr9:193861..140140210 [NCBI36] Chr9:9p24.3-q34.3	pathogenic
GRCh38/hg38 9q34.13-34.3(chr9:132386553-138059695)x3	copy number gain	See cases [RCV000142636]	Chr9:132386553..138059695 [GRCh38] Chr9:135261940..140954147 [GRCh37] Chr9:134251761..140073968 [NCBI36] Chr9:9q34.13-34.3	pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	copy number gain	See cases [RCV000143476]	Chr9:203862..138125937 [GRCh38] Chr9:203862..141020389 [GRCh37] Chr9:193862..140140210 [NCBI36] Chr9:9p24.3-q34.3	pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	copy number gain	See cases [RCV000148113]	Chr9:193412..138179445 [GRCh38] Chr9:204193..141073897 [GRCh37] Chr9:194193..140193718 [NCBI36] Chr9:9p24.3-q34.3	pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3	copy number gain	See cases [RCV000240081]	Chr9:163131..141122114 [GRCh37] Chr9:9p24.3-q34.3	pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407)	copy number gain	See cases [RCV000449375]	Chr9:62525..141006407 [GRCh37] Chr9:9p24.3-q34.3	pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	copy number gain	not specified [RCV003986800]	Chr9:203861..141020389 [GRCh37] Chr9:9p24.3-q34.3	pathogenic
GRCh37/hg19 9q33.3-34.3(chr9:128652785-141044751)x3	copy number gain	See cases [RCV000447080]	Chr9:128652785..141044751 [GRCh37] Chr9:9q33.3-34.3	pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203864-141020389)x3	copy number gain	See cases [RCV000448978]	Chr9:203864..141020389 [GRCh37] Chr9:9p24.3-q34.3	pathogenic
GRCh37/hg19 9q33.2-34.3(chr9:124642754-141146461)x3	copy number gain	See cases [RCV000448784]	Chr9:124642754..141146461 [GRCh37] Chr9:9q33.2-34.3	pathogenic
GRCh37/hg19 9q34.13-34.3(chr9:135377559-141213431)x1	copy number loss	mTOR Inhibitor response [RCV000626442]	Chr9:135377559..141213431 [GRCh37] Chr9:9q34.13-34.3	drug response
GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928)	copy number gain	Global developmental delay [RCV000626548]	Chr9:71069743..140999928 [GRCh37] Chr9:9q21.11-34.3	likely pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389)	copy number gain	See cases [RCV000512392]	Chr9:203862..141020389 [GRCh37] Chr9:9p24.3-q34.3	pathogenic
GRCh37/hg19 9q34.13-34.3(chr9:135105971-141020389)x3	copy number gain	not provided [RCV000683160]	Chr9:135105971..141020389 [GRCh37] Chr9:9q34.13-34.3	pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141122247)x3	copy number gain	not provided [RCV000748055]	Chr9:10590..141122247 [GRCh37] Chr9:9p24.3-q34.3	pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141107672)x3	copy number gain	not provided [RCV000748053]	Chr9:10590..141107672 [GRCh37] Chr9:9p24.3-q34.3	pathogenic
GRCh37/hg19 9q34.2(chr9:136310908-136452144)x1	copy number loss	not provided [RCV000748743]	Chr9:136310908..136452144 [GRCh37] Chr9:9q34.2	benign
GRCh37/hg19 9p24.3-q34.3(chr9:46587-141066491)x3	copy number gain	not provided [RCV000748063]	Chr9:46587..141066491 [GRCh37] Chr9:9p24.3-q34.3	pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141114095)x2	copy number gain	not provided [RCV000748054]	Chr9:10590..141114095 [GRCh37] Chr9:9p24.3-q34.3	pathogenic
NC_000009.11:g.(?_134379574)_(138678377_?)dup	duplication	Ehlers-Danlos syndrome, classic type [RCV000807925]	Chr9:134379574..138678377 [GRCh37] Chr9:9q34.13-34.3	uncertain significance
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3	copy number gain	not provided [RCV000845900]	Chr9:203861..141020388 [GRCh37] Chr9:9p24.3-q34.3	pathogenic
GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3	copy number gain	not provided [RCV000847808]	Chr9:71416475..141020389 [GRCh37] Chr9:9q21.11-34.3	pathogenic
NC_000009.11:g.(?_135771602)_(136769889_?)dup	duplication	Tuberous sclerosis 1 [RCV001033460]	Chr9:135771602..136769889 [GRCh37] Chr9:9q34.13-34.2	uncertain significance
NC_000009.11:g.(?_135771850)_(137038881_?)dup	duplication	Tuberous sclerosis 1 [RCV001033564]	Chr9:135771850..137038881 [GRCh37] Chr9:9q34.13-34.2	uncertain significance
GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389)	copy number gain	not specified [RCV002053823]	Chr9:353349..141020389 [GRCh37] Chr9:9p24.3-q34.3	pathogenic
NC_000009.11:g.(?_135139626)_(140034216_?)dup	duplication	Developmental and epileptic encephalopathy, 14 [RCV003111109]\|Leigh syndrome [RCV003122287]\|Rafiq syndrome [RCV003122286]\|Tuberous sclerosis 1 [RCV003111108]	Chr9:135139626..140034216 [GRCh37] Chr9:9q34.13-34.3	uncertain significance
NC_000009.11:g.(?_131087402)_(141016451_?)dup	duplication	Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome [RCV003119700]	Chr9:131087402..141016451 [GRCh37] Chr9:9q34.11-34.3	uncertain significance
NC_000009.11:g.(?_136218768)_(141016451_?)dup	duplication	Kleefstra syndrome 1 [RCV003122719]	Chr9:136218768..141016451 [GRCh37] Chr9:9q34.2-34.3	uncertain significance
NM_017586.5(CACFD1):c.101C>G (p.Ser34Cys)	single nucleotide variant	Inborn genetic diseases [RCV003258570]	Chr9:133460167 [GRCh38] Chr9:136325289 [GRCh37] Chr9:9q34.2	uncertain significance
NM_017586.5(CACFD1):c.25G>A (p.Gly9Arg)	single nucleotide variant	Inborn genetic diseases [RCV002818195]	Chr9:133460091 [GRCh38] Chr9:136325213 [GRCh37] Chr9:9q34.2	uncertain significance
NM_017586.5(CACFD1):c.265G>A (p.Val89Met)	single nucleotide variant	Inborn genetic diseases [RCV002782202]	Chr9:133465392 [GRCh38] Chr9:136330514 [GRCh37] Chr9:9q34.2	uncertain significance
NM_017586.5(CACFD1):c.280G>A (p.Asp94Asn)	single nucleotide variant	Inborn genetic diseases [RCV002783559]	Chr9:133465407 [GRCh38] Chr9:136330529 [GRCh37] Chr9:9q34.2	uncertain significance
NM_017586.5(CACFD1):c.362C>T (p.Thr121Met)	single nucleotide variant	Inborn genetic diseases [RCV002951463]	Chr9:133467962 [GRCh38] Chr9:136333084 [GRCh37] Chr9:9q34.2	uncertain significance
NM_017586.5(CACFD1):c.507G>C (p.Glu169Asp)	single nucleotide variant	Inborn genetic diseases [RCV002737326]	Chr9:133468641 [GRCh38] Chr9:136333763 [GRCh37] Chr9:9q34.2	uncertain significance
NM_017586.5(CACFD1):c.*45G>A	single nucleotide variant	Inborn genetic diseases [RCV002809710]	Chr9:133468698 [GRCh38] Chr9:136333820 [GRCh37] Chr9:9q34.2	uncertain significance
NM_017586.5(CACFD1):c.492C>T (p.Leu164=)	single nucleotide variant	Inborn genetic diseases [RCV002677416]	Chr9:133468626 [GRCh38] Chr9:136333748 [GRCh37] Chr9:9q34.2	uncertain significance
NM_017586.5(CACFD1):c.87G>T (p.Trp29Cys)	single nucleotide variant	Inborn genetic diseases [RCV003215222]	Chr9:133460153 [GRCh38] Chr9:136325275 [GRCh37] Chr9:9q34.2	uncertain significance
NM_017586.5(CACFD1):c.432C>G (p.Gly144=)	single nucleotide variant	Inborn genetic diseases [RCV003215669]	Chr9:133468566 [GRCh38] Chr9:136333688 [GRCh37] Chr9:9q34.2	uncertain significance
NM_017586.5(CACFD1):c.227C>T (p.Ala76Val)	single nucleotide variant	Inborn genetic diseases [RCV003192240]	Chr9:133465354 [GRCh38] Chr9:136330476 [GRCh37] Chr9:9q34.2	uncertain significance
NM_017586.5(CACFD1):c.*12C>T	single nucleotide variant	Inborn genetic diseases [RCV003386109]	Chr9:133468665 [GRCh38] Chr9:136333787 [GRCh37] Chr9:9q34.2	uncertain significance

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	4707
Count of miRNA genes:	916
Interacting mature miRNAs:	1126
Transcripts:	ENST00000291722, ENST00000316948, ENST00000444798, ENST00000474734, ENST00000489519, ENST00000540581, ENST00000542192
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

STS-AA040591

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	9	136,331,582 - 136,331,779	UniSTS	GRCh37
Build 36	9	135,321,403 - 135,321,600	RGD	NCBI36
Celera	9	106,882,216 - 106,882,413	RGD
Cytogenetic Map	9	q34	UniSTS
HuRef	9	105,833,283 - 105,833,480	UniSTS
GeneMap99-GB4 RH Map	9	412.7	UniSTS

D9S2135

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	9	136,335,246 - 136,335,399	UniSTS	GRCh37
Build 36	9	135,325,067 - 135,325,220	RGD	NCBI36
Celera	9	106,885,880 - 106,886,023	RGD
Cytogenetic Map	9	q34	UniSTS
HuRef	9	105,836,947 - 105,837,088	UniSTS

ADAMTS13_3006

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	9	136,324,045 - 136,324,644	UniSTS	GRCh37
Build 36	9	135,313,866 - 135,314,465	RGD	NCBI36
Celera	9	106,874,638 - 106,875,237	RGD
HuRef	9	105,825,739 - 105,826,338	UniSTS

Expression

RNA-SEQ Expression

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

alimentary part of gastrointestinal system

circulatory system

endocrine system

exocrine system

hemolymphoid system

hepatobiliary system

integumental system

musculoskeletal system

nervous system

renal system

reproductive system

respiratory system

sensory system

visual system

adipose tissue

appendage

entire extraembryonic component

pharyngeal arch

High

Medium

2274

1373

1623

601

425

458

1542

931

1873

373

1322

1487

156

110

1226

Low

165

1589

103

1485

2815

1265

1860

137

126

1094

1562

Below cutoff

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_001135775	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001242369	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001242370	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_017586	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011518181	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011518182	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011518184	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011518185	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011518186	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_024447398	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054331571	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054331572	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054331573	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054331574	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054361865	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054361866	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054361867	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054361868	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054361869	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AA436195	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AJ011373	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK074852	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK075416	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK075548	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK296343	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK298820	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK304524	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK311325	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL137319	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL593848	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY358452	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC030558	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471090	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068269	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CQ782808	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CS051223	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CS051397	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DA699497	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DB165724	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

RefSeq Acc Id:

ENST00000291722 ⟹ ENSP00000291722

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	9	133,459,967 - 133,470,848 (+)	Ensembl

RefSeq Acc Id:

ENST00000316948 ⟹ ENSP00000317121

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	9	133,459,978 - 133,470,848 (+)	Ensembl

RefSeq Acc Id:

ENST00000444798 ⟹ ENSP00000414495

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	9	133,462,171 - 133,468,028 (+)	Ensembl

RefSeq Acc Id:

ENST00000474734

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	9	133,459,987 - 133,468,619 (+)	Ensembl

RefSeq Acc Id:

ENST00000489519

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	9	133,459,998 - 133,465,853 (+)	Ensembl

RefSeq Acc Id:

ENST00000540581 ⟹ ENSP00000440832

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	9	133,459,965 - 133,470,787 (+)	Ensembl

RefSeq Acc Id:

ENST00000542192 ⟹ ENSP00000444328

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	9	133,459,965 - 133,470,787 (+)	Ensembl

RefSeq Acc Id:

NM_001135775 ⟹ NP_001129247

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	9	133,459,978 - 133,470,848 (+)	NCBI
GRCh37	9	136,325,087 - 136,335,909 (+)	RGD
Celera	9	106,875,680 - 106,886,533 (+)	RGD
HuRef	9	105,826,781 - 105,837,598 (+)	ENTREZGENE
CHM1_1	9	136,475,590 - 136,486,412 (+)	NCBI
T2T-CHM13v2.0	9	145,674,420 - 145,685,255 (+)	NCBI

Sequence:

show sequence

CCCTCTCCCACAAGGCAGCGCGCCGGCTCGGACGCGGCCGGCTACCGAGCCCTTTGTGAGGGCT
GTGAGCTGCGCCTGACGGTGGCACCATGAGCAGCTCAGGTGGGGCGCCCGGGGCGTCCGCCAGC
TCTGCGCCGCCCGCGCAGGAAGAGGGCATGACGTGGTGGTACCGCTGGCTGTGTCGCCTGTCTG
GGGTGCTGGGGGCAGTCTCTTGCGCGATCTCTGGCCTCTTCAACTGCATCACCATCCACCCTCT
GAACATTGCGGCCGGCGTGTGGATGATGATGGCGGTCGTTCCCATCGTCATCAGCCTGACCCTG
ACCACGCTGCTGGGCAACGCCATCGCCTTTGCTACGGGGGTGCTGTACGGACTCTCTGCTCTGG
GCAAAAAGGGCGATGCGATCTCCTATGCCAGGATCCAGCAGCAGAGGCAGCAGGCGGATGAGGA
GAAGCTCGCGGAGACCCTGGAGGGGGAGCTGTGAAGGGCTGGGCGCCCCTCCCTCCCTGTCCCC
TCTTCTGGCTCTGTGTGGGTCCAAGTGAGGCCTGGACTGTCCACGCTGAGGCACAGCCTGGAGA
GGGGCCTTTGCACGTGTCCCTACACCTGGAGTCCTCTGCTCCTTTCTCCAGACTGGCTTAAGCC
AGGAGCCACTGGCTGCTGGTGTGAGGGTCTGGGCTGCTGGACTTGAGGCAGAGCCTGCAGCAGC
TGTGTGGACACTACCCAGCCCTACTCCTCTGCTGGGTGGGTCTGCAGATCTCACACCACAGACA
GGGCTGCCTGTGACCTGCTGTGACCTGGGAGCAGCTTCCCCTGGAGATGCTGGTCCTGGCTTGA
GGGGAGGGGCAAGTGGGACCCTGCCACCTGGGCACTGAGCAGAGGGACCTCCCCCAGCTCTCTT
AGCAGGTGGAGCCCCAGGGCCTGGGACAGCCTGCCGCTGCCAGCAACCTCCCACTGCTGCCTAG
GGTGCAGCGCCCACTGTCACCCTGCCTTCTGAAGAAGCCCACAGGGCTCCTAAGGTGCACCCCG
GTACCTGGAACTGCAGCCTTGGCAGTGACTGGACAGCTGGGTGGGGGATGCTCCCTGCTGGCCC
TGGGAACCTTGGACAGGCCACCTCAAGGCCCCTCGGCTGCCCCTCCTCCCTGGGCCTGCTGGGG
CCCCTAGGTTCTGCCCATCACCCCCCGCCCCTGCTGGCCTTGGTGCTAAGGAAGTGGGGAGAGC
AGGCTCTCCCTGGCACCGAGGGTGCCCACCCTCTCCCTGGTGTGGCCCCGTCAACATCAGCCAC
AGCCCAGCCCCATTAGTGGGTTAGTGGGTCTGACCTCAGCCCCACTCAGGTGCTCCTGCTGGCC
TGCCCAAGCCCTGCCCTCAGGGAGCTTCTGCCTTTTAAGAACTGGGCAGAGGCCACAGTCACCT
CCCCACACAGAGCTGTCCCCACTGCCCTGGGTGCCAGGCTGTCCGGAGCCAGGCCTACCCAGGG
AGGATGCAGAGAGCTGGTGCCCAGGATGTGCACCCCCATATTCCCTCTGCCCTGTGGCCTCAGC
CCGCTGGCCTCTCTGACCGTGAGGCTGGCTCTCAGCCATCGGGCAGGTGCCTGGTCGGGCCTGG
CTTAGCCCAGGTGGGGTTTGGCAGAAGCGGGCGGGTGTGGAAGATATTCCATCTGGGGCCAACC
CCAGGCTGGGCCTGCGCTGAGCTTCTGGAGCGCAGGTACTGGGTCTTGCTAAGTGAACTGTTTC
CCAGGAACACCTCTCGGGCCCATCTGCGTCTGAGGCTGGGAGTGGCATCTGAGGCCGGGAGTGG
CATCTGAGGCCAGGAGTGGCAGGCTGGTGGGCTGGGCGTGGGGTTTTCTGGGCCCTGCCCAGTA
CTGCCCTGGGGACTTGGTGGGCTCCTGGGTCAGCAGCATCCCACCCCTGGGAGTCTGGCCAGCT
GAGCCCCAGGGTGGCAGGGGCATTATAGCCTGGTGGACATGTGCCTTCAGGGTTCCTCCGGGGC
CACCTTCCTCAGGCCAGTGCTGGGTTCAAAGGGCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG
TGTGTGTATGTATATGTGTGTGGGTGCACACATCTGTCCCATGTATGCAGTGAGACCTGTCTAC
CTCCCACAAGGAGCAAGGGCTCTGCCCGCCCTCTGCTCATTCCTACCCAGGTAGTGGGACCCCG
GGCCCCCTTCTGCCTGGCTTGCCTGCTTCTGCCCTTTCCAGAGGGGTCTCACTGACAGCCAGAG
ACAGCAGGAGAAGGGTTGGCTGTGGATCAAGGAAGGCTGCCCCTGTACCCTGTGGGGAAATGGT
GGGTGCATGGCTGGATGCAGAGGTGGAAGGCCCTGGGCCACAGGCGAGAGTGGGCGTGTCACCT
GTCCCAGGTTCCCAGCAAGTCTGCAGCTGTGCAGTCCTGGGGTCCCTGACCCTGTCGCCCAGGG
GGCGTGCTGTCCAGCAGGGGCCCTGCCTTGCAAGGAACGTCTCTTCCGGCGGCTGGGCCGCTCC
TGCCTGGTCTGGGCTGTGTGTGGCGCCCTTTCCTCCTTGTTTGTTCCTCTGTGTTCTGTGTGCG
TCTTAAGCAATAAAGCGTGGCCGTGGCTCGCGTGCCTGCCCTCTGCTCCCTTCTGCCTTGGTGC
CTGTGTGTGAGTGTGGAAGCCAGGCAGGAGCCGCTGGCCCAGGAAATAACTAC

hide sequence

RefSeq Acc Id:

NM_001242369 ⟹ NP_001229298

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	9	133,459,978 - 133,470,848 (+)	NCBI
GRCh37	9	136,325,087 - 136,335,909 (+)	ENTREZGENE
HuRef	9	105,826,781 - 105,837,598 (+)	ENTREZGENE
CHM1_1	9	136,475,590 - 136,486,412 (+)	NCBI
T2T-CHM13v2.0	9	145,674,420 - 145,685,255 (+)	NCBI

Sequence:

show sequence

CCCTCTCCCACAAGGCAGCGCGCCGGCTCGGACGCGGCCGGCTACCGAGCCCTTTGTGAGGGCT
GTGAGCTGCGCCTGACGGTGGCACCATGAGCAGCTCAGGTGGGGCGCCCGGGGCGTCCGCCAGC
TCTGCGCCGCCCGCGCAGGAAGAGGGCATGACGTGGTGGTACCGCTGGCTGTGTCGCCTGTCTG
GGGTGCTGGGGGCAGTCTCTTGCGCGATCTCTGGCCTCTTCAACTGCATCACCATCCACCCTCT
GAACATTGCGGCCGGCGTGTGGATGATCATGAATGCCTTCATCTTGTTGCTGTGTGAGGCGCCC
TTCTGCTGCCAGTTCATCGAGTTTGCAAACACAGTGGCGGAGAAGGTGGACCGGCTGCGCTCCT
GGCAGAAGGCTGTCTTCTACTGCGGGATGGCGGTCGTTCCCATCGTCATCAGCCTGACCCTGAC
CACGCTGCTGGGCAACGCCATCGCCTTTGCTACGGGGGTGCTGTACGGACTCTCTGCTCTGGGC
AAAAAAGCCCAGACTGAGGCTGGTTCCTTCGCAGCCCAGCATCCCAGGGAGCCTGGGCCATTCT
CAGAGGGGACAAGACAGGCCTTTGCCACCCCAGCAGTTGTCTCTGGGGAAATCAGAATGCCTGC
AGGGGCGATGCGATCTCCTATGCCAGGATCCAGCAGCAGAGGCAGCAGGCGGATGAGGAGAAGC
TCGCGGAGACCCTGGAGGGGGAGCTGTGAAGGGCTGGGCGCCCCTCCCTCCCTGTCCCCTCTTC
TGGCTCTGTGTGGGTCCAAGTGAGGCCTGGACTGTCCACGCTGAGGCACAGCCTGGAGAGGGGC
CTTTGCACGTGTCCCTACACCTGGAGTCCTCTGCTCCTTTCTCCAGACTGGCTTAAGCCAGGAG
CCACTGGCTGCTGGTGTGAGGGTCTGGGCTGCTGGACTTGAGGCAGAGCCTGCAGCAGCTGTGT
GGACACTACCCAGCCCTACTCCTCTGCTGGGTGGGTCTGCAGATCTCACACCACAGACAGGGCT
GCCTGTGACCTGCTGTGACCTGGGAGCAGCTTCCCCTGGAGATGCTGGTCCTGGCTTGAGGGGA
GGGGCAAGTGGGACCCTGCCACCTGGGCACTGAGCAGAGGGACCTCCCCCAGCTCTCTTAGCAG
GTGGAGCCCCAGGGCCTGGGACAGCCTGCCGCTGCCAGCAACCTCCCACTGCTGCCTAGGGTGC
AGCGCCCACTGTCACCCTGCCTTCTGAAGAAGCCCACAGGGCTCCTAAGGTGCACCCCGGTACC
TGGAACTGCAGCCTTGGCAGTGACTGGACAGCTGGGTGGGGGATGCTCCCTGCTGGCCCTGGGA
ACCTTGGACAGGCCACCTCAAGGCCCCTCGGCTGCCCCTCCTCCCTGGGCCTGCTGGGGCCCCT
AGGTTCTGCCCATCACCCCCCGCCCCTGCTGGCCTTGGTGCTAAGGAAGTGGGGAGAGCAGGCT
CTCCCTGGCACCGAGGGTGCCCACCCTCTCCCTGGTGTGGCCCCGTCAACATCAGCCACAGCCC
AGCCCCATTAGTGGGTTAGTGGGTCTGACCTCAGCCCCACTCAGGTGCTCCTGCTGGCCTGCCC
AAGCCCTGCCCTCAGGGAGCTTCTGCCTTTTAAGAACTGGGCAGAGGCCACAGTCACCTCCCCA
CACAGAGCTGTCCCCACTGCCCTGGGTGCCAGGCTGTCCGGAGCCAGGCCTACCCAGGGAGGAT
GCAGAGAGCTGGTGCCCAGGATGTGCACCCCCATATTCCCTCTGCCCTGTGGCCTCAGCCCGCT
GGCCTCTCTGACCGTGAGGCTGGCTCTCAGCCATCGGGCAGGTGCCTGGTCGGGCCTGGCTTAG
CCCAGGTGGGGTTTGGCAGAAGCGGGCGGGTGTGGAAGATATTCCATCTGGGGCCAACCCCAGG
CTGGGCCTGCGCTGAGCTTCTGGAGCGCAGGTACTGGGTCTTGCTAAGTGAACTGTTTCCCAGG
AACACCTCTCGGGCCCATCTGCGTCTGAGGCTGGGAGTGGCATCTGAGGCCGGGAGTGGCATCT
GAGGCCAGGAGTGGCAGGCTGGTGGGCTGGGCGTGGGGTTTTCTGGGCCCTGCCCAGTACTGCC
CTGGGGACTTGGTGGGCTCCTGGGTCAGCAGCATCCCACCCCTGGGAGTCTGGCCAGCTGAGCC
CCAGGGTGGCAGGGGCATTATAGCCTGGTGGACATGTGCCTTCAGGGTTCCTCCGGGGCCACCT
TCCTCAGGCCAGTGCTGGGTTCAAAGGGCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
GTATGTATATGTGTGTGGGTGCACACATCTGTCCCATGTATGCAGTGAGACCTGTCTACCTCCC
ACAAGGAGCAAGGGCTCTGCCCGCCCTCTGCTCATTCCTACCCAGGTAGTGGGACCCCGGGCCC
CCTTCTGCCTGGCTTGCCTGCTTCTGCCCTTTCCAGAGGGGTCTCACTGACAGCCAGAGACAGC
AGGAGAAGGGTTGGCTGTGGATCAAGGAAGGCTGCCCCTGTACCCTGTGGGGAAATGGTGGGTG
CATGGCTGGATGCAGAGGTGGAAGGCCCTGGGCCACAGGCGAGAGTGGGCGTGTCACCTGTCCC
AGGTTCCCAGCAAGTCTGCAGCTGTGCAGTCCTGGGGTCCCTGACCCTGTCGCCCAGGGGGCGT
GCTGTCCAGCAGGGGCCCTGCCTTGCAAGGAACGTCTCTTCCGGCGGCTGGGCCGCTCCTGCCT
GGTCTGGGCTGTGTGTGGCGCCCTTTCCTCCTTGTTTGTTCCTCTGTGTTCTGTGTGCGTCTTA
AGCAATAAAGCGTGGCCGTGGCTCGCGTGCCTGCCCTCTGCTCCCTTCTGCCTTGGTGCCTGTG
TGTGAGTGTGGAAGCCAGGCAGGAGCCGCTGGCCCAGGAAATAACTAC

hide sequence

RefSeq Acc Id:

NM_001242370 ⟹ NP_001229299

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	9	133,459,978 - 133,470,848 (+)	NCBI
GRCh37	9	136,325,087 - 136,335,909 (+)	ENTREZGENE
HuRef	9	105,826,781 - 105,837,598 (+)	ENTREZGENE
CHM1_1	9	136,475,590 - 136,486,412 (+)	NCBI
T2T-CHM13v2.0	9	145,674,420 - 145,685,255 (+)	NCBI

Sequence:

show sequence

CCCTCTCCCACAAGGCAGCGCGCCGGCTCGGACGCGGCCGGCTACCGAGCCCTTTGTGAGGGCT
GTGAGCTGCGCCTGACGGTGGCACCATGAGCAGCTCAGGTGGGGCGCCCGGGGCGTCCGCCAGC
TCTGCGCCGCCCGCGCAGGAAGAGGGCATGACGTGGTGGTACCGCTGGCTGTGTCGCCTGTCTG
GGGTGCTGGGGGCAGTCTCTTGCGCGATCTCTGGCCTCTTCAACTGCATCACCATCCACCCTCT
GAACATTGCGGCCGGCGTGTGGATGATGATGGCGGTCGTTCCCATCGTCATCAGCCTGACCCTG
ACCACGCTGCTGGGCAACGCCATCGCCTTTGCTACGGGGGTGCTGTACGGACTCTCTGCTCTGG
GCAAAAAAGCCCAGACTGAGGCTGGTTCCTTCGCAGCCCAGCATCCCAGGGAGCCTGGGCCATT
CTCAGAGGGGACAAGACAGGCCTTTGCCACCCCAGCAGTTGTCTCTGGGGAAATCAGAATGCCT
GCAGGGGCGATGCGATCTCCTATGCCAGGATCCAGCAGCAGAGGCAGCAGGCGGATGAGGAGAA
GCTCGCGGAGACCCTGGAGGGGGAGCTGTGAAGGGCTGGGCGCCCCTCCCTCCCTGTCCCCTCT
TCTGGCTCTGTGTGGGTCCAAGTGAGGCCTGGACTGTCCACGCTGAGGCACAGCCTGGAGAGGG
GCCTTTGCACGTGTCCCTACACCTGGAGTCCTCTGCTCCTTTCTCCAGACTGGCTTAAGCCAGG
AGCCACTGGCTGCTGGTGTGAGGGTCTGGGCTGCTGGACTTGAGGCAGAGCCTGCAGCAGCTGT
GTGGACACTACCCAGCCCTACTCCTCTGCTGGGTGGGTCTGCAGATCTCACACCACAGACAGGG
CTGCCTGTGACCTGCTGTGACCTGGGAGCAGCTTCCCCTGGAGATGCTGGTCCTGGCTTGAGGG
GAGGGGCAAGTGGGACCCTGCCACCTGGGCACTGAGCAGAGGGACCTCCCCCAGCTCTCTTAGC
AGGTGGAGCCCCAGGGCCTGGGACAGCCTGCCGCTGCCAGCAACCTCCCACTGCTGCCTAGGGT
GCAGCGCCCACTGTCACCCTGCCTTCTGAAGAAGCCCACAGGGCTCCTAAGGTGCACCCCGGTA
CCTGGAACTGCAGCCTTGGCAGTGACTGGACAGCTGGGTGGGGGATGCTCCCTGCTGGCCCTGG
GAACCTTGGACAGGCCACCTCAAGGCCCCTCGGCTGCCCCTCCTCCCTGGGCCTGCTGGGGCCC
CTAGGTTCTGCCCATCACCCCCCGCCCCTGCTGGCCTTGGTGCTAAGGAAGTGGGGAGAGCAGG
CTCTCCCTGGCACCGAGGGTGCCCACCCTCTCCCTGGTGTGGCCCCGTCAACATCAGCCACAGC
CCAGCCCCATTAGTGGGTTAGTGGGTCTGACCTCAGCCCCACTCAGGTGCTCCTGCTGGCCTGC
CCAAGCCCTGCCCTCAGGGAGCTTCTGCCTTTTAAGAACTGGGCAGAGGCCACAGTCACCTCCC
CACACAGAGCTGTCCCCACTGCCCTGGGTGCCAGGCTGTCCGGAGCCAGGCCTACCCAGGGAGG
ATGCAGAGAGCTGGTGCCCAGGATGTGCACCCCCATATTCCCTCTGCCCTGTGGCCTCAGCCCG
CTGGCCTCTCTGACCGTGAGGCTGGCTCTCAGCCATCGGGCAGGTGCCTGGTCGGGCCTGGCTT
AGCCCAGGTGGGGTTTGGCAGAAGCGGGCGGGTGTGGAAGATATTCCATCTGGGGCCAACCCCA
GGCTGGGCCTGCGCTGAGCTTCTGGAGCGCAGGTACTGGGTCTTGCTAAGTGAACTGTTTCCCA
GGAACACCTCTCGGGCCCATCTGCGTCTGAGGCTGGGAGTGGCATCTGAGGCCGGGAGTGGCAT
CTGAGGCCAGGAGTGGCAGGCTGGTGGGCTGGGCGTGGGGTTTTCTGGGCCCTGCCCAGTACTG
CCCTGGGGACTTGGTGGGCTCCTGGGTCAGCAGCATCCCACCCCTGGGAGTCTGGCCAGCTGAG
CCCCAGGGTGGCAGGGGCATTATAGCCTGGTGGACATGTGCCTTCAGGGTTCCTCCGGGGCCAC
CTTCCTCAGGCCAGTGCTGGGTTCAAAGGGCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
GTGTATGTATATGTGTGTGGGTGCACACATCTGTCCCATGTATGCAGTGAGACCTGTCTACCTC
CCACAAGGAGCAAGGGCTCTGCCCGCCCTCTGCTCATTCCTACCCAGGTAGTGGGACCCCGGGC
CCCCTTCTGCCTGGCTTGCCTGCTTCTGCCCTTTCCAGAGGGGTCTCACTGACAGCCAGAGACA
GCAGGAGAAGGGTTGGCTGTGGATCAAGGAAGGCTGCCCCTGTACCCTGTGGGGAAATGGTGGG
TGCATGGCTGGATGCAGAGGTGGAAGGCCCTGGGCCACAGGCGAGAGTGGGCGTGTCACCTGTC
CCAGGTTCCCAGCAAGTCTGCAGCTGTGCAGTCCTGGGGTCCCTGACCCTGTCGCCCAGGGGGC
GTGCTGTCCAGCAGGGGCCCTGCCTTGCAAGGAACGTCTCTTCCGGCGGCTGGGCCGCTCCTGC
CTGGTCTGGGCTGTGTGTGGCGCCCTTTCCTCCTTGTTTGTTCCTCTGTGTTCTGTGTGCGTCT
TAAGCAATAAAGCGTGGCCGTGGCTCGCGTGCCTGCCCTCTGCTCCCTTCTGCCTTGGTGCCTG
TGTGTGAGTGTGGAAGCCAGGCAGGAGCCGCTGGCCCAGGAAATAACTAC

hide sequence

RefSeq Acc Id:

NM_017586 ⟹ NP_060056

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	9	133,459,978 - 133,470,848 (+)	NCBI
GRCh37	9	136,325,087 - 136,335,909 (+)	RGD
Build 36	9	135,314,952 - 135,325,706 (+)	NCBI Archive
Celera	9	106,875,680 - 106,886,533 (+)	RGD
HuRef	9	105,826,781 - 105,837,598 (+)	ENTREZGENE
CHM1_1	9	136,475,590 - 136,486,412 (+)	NCBI
T2T-CHM13v2.0	9	145,674,420 - 145,685,255 (+)	NCBI

Sequence:

show sequence

CCCTCTCCCACAAGGCAGCGCGCCGGCTCGGACGCGGCCGGCTACCGAGCCCTTTGTGAGGGCT
GTGAGCTGCGCCTGACGGTGGCACCATGAGCAGCTCAGGTGGGGCGCCCGGGGCGTCCGCCAGC
TCTGCGCCGCCCGCGCAGGAAGAGGGCATGACGTGGTGGTACCGCTGGCTGTGTCGCCTGTCTG
GGGTGCTGGGGGCAGTCTCTTGCGCGATCTCTGGCCTCTTCAACTGCATCACCATCCACCCTCT
GAACATTGCGGCCGGCGTGTGGATGATCATGAATGCCTTCATCTTGTTGCTGTGTGAGGCGCCC
TTCTGCTGCCAGTTCATCGAGTTTGCAAACACAGTGGCGGAGAAGGTGGACCGGCTGCGCTCCT
GGCAGAAGGCTGTCTTCTACTGCGGGATGGCGGTCGTTCCCATCGTCATCAGCCTGACCCTGAC
CACGCTGCTGGGCAACGCCATCGCCTTTGCTACGGGGGTGCTGTACGGACTCTCTGCTCTGGGC
AAAAAGGGCGATGCGATCTCCTATGCCAGGATCCAGCAGCAGAGGCAGCAGGCGGATGAGGAGA
AGCTCGCGGAGACCCTGGAGGGGGAGCTGTGAAGGGCTGGGCGCCCCTCCCTCCCTGTCCCCTC
TTCTGGCTCTGTGTGGGTCCAAGTGAGGCCTGGACTGTCCACGCTGAGGCACAGCCTGGAGAGG
GGCCTTTGCACGTGTCCCTACACCTGGAGTCCTCTGCTCCTTTCTCCAGACTGGCTTAAGCCAG
GAGCCACTGGCTGCTGGTGTGAGGGTCTGGGCTGCTGGACTTGAGGCAGAGCCTGCAGCAGCTG
TGTGGACACTACCCAGCCCTACTCCTCTGCTGGGTGGGTCTGCAGATCTCACACCACAGACAGG
GCTGCCTGTGACCTGCTGTGACCTGGGAGCAGCTTCCCCTGGAGATGCTGGTCCTGGCTTGAGG
GGAGGGGCAAGTGGGACCCTGCCACCTGGGCACTGAGCAGAGGGACCTCCCCCAGCTCTCTTAG
CAGGTGGAGCCCCAGGGCCTGGGACAGCCTGCCGCTGCCAGCAACCTCCCACTGCTGCCTAGGG
TGCAGCGCCCACTGTCACCCTGCCTTCTGAAGAAGCCCACAGGGCTCCTAAGGTGCACCCCGGT
ACCTGGAACTGCAGCCTTGGCAGTGACTGGACAGCTGGGTGGGGGATGCTCCCTGCTGGCCCTG
GGAACCTTGGACAGGCCACCTCAAGGCCCCTCGGCTGCCCCTCCTCCCTGGGCCTGCTGGGGCC
CCTAGGTTCTGCCCATCACCCCCCGCCCCTGCTGGCCTTGGTGCTAAGGAAGTGGGGAGAGCAG
GCTCTCCCTGGCACCGAGGGTGCCCACCCTCTCCCTGGTGTGGCCCCGTCAACATCAGCCACAG
CCCAGCCCCATTAGTGGGTTAGTGGGTCTGACCTCAGCCCCACTCAGGTGCTCCTGCTGGCCTG
CCCAAGCCCTGCCCTCAGGGAGCTTCTGCCTTTTAAGAACTGGGCAGAGGCCACAGTCACCTCC
CCACACAGAGCTGTCCCCACTGCCCTGGGTGCCAGGCTGTCCGGAGCCAGGCCTACCCAGGGAG
GATGCAGAGAGCTGGTGCCCAGGATGTGCACCCCCATATTCCCTCTGCCCTGTGGCCTCAGCCC
GCTGGCCTCTCTGACCGTGAGGCTGGCTCTCAGCCATCGGGCAGGTGCCTGGTCGGGCCTGGCT
TAGCCCAGGTGGGGTTTGGCAGAAGCGGGCGGGTGTGGAAGATATTCCATCTGGGGCCAACCCC
AGGCTGGGCCTGCGCTGAGCTTCTGGAGCGCAGGTACTGGGTCTTGCTAAGTGAACTGTTTCCC
AGGAACACCTCTCGGGCCCATCTGCGTCTGAGGCTGGGAGTGGCATCTGAGGCCGGGAGTGGCA
TCTGAGGCCAGGAGTGGCAGGCTGGTGGGCTGGGCGTGGGGTTTTCTGGGCCCTGCCCAGTACT
GCCCTGGGGACTTGGTGGGCTCCTGGGTCAGCAGCATCCCACCCCTGGGAGTCTGGCCAGCTGA
GCCCCAGGGTGGCAGGGGCATTATAGCCTGGTGGACATGTGCCTTCAGGGTTCCTCCGGGGCCA
CCTTCCTCAGGCCAGTGCTGGGTTCAAAGGGCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG
TGTGTATGTATATGTGTGTGGGTGCACACATCTGTCCCATGTATGCAGTGAGACCTGTCTACCT
CCCACAAGGAGCAAGGGCTCTGCCCGCCCTCTGCTCATTCCTACCCAGGTAGTGGGACCCCGGG
CCCCCTTCTGCCTGGCTTGCCTGCTTCTGCCCTTTCCAGAGGGGTCTCACTGACAGCCAGAGAC
AGCAGGAGAAGGGTTGGCTGTGGATCAAGGAAGGCTGCCCCTGTACCCTGTGGGGAAATGGTGG
GTGCATGGCTGGATGCAGAGGTGGAAGGCCCTGGGCCACAGGCGAGAGTGGGCGTGTCACCTGT
CCCAGGTTCCCAGCAAGTCTGCAGCTGTGCAGTCCTGGGGTCCCTGACCCTGTCGCCCAGGGGG
CGTGCTGTCCAGCAGGGGCCCTGCCTTGCAAGGAACGTCTCTTCCGGCGGCTGGGCCGCTCCTG
CCTGGTCTGGGCTGTGTGTGGCGCCCTTTCCTCCTTGTTTGTTCCTCTGTGTTCTGTGTGCGTC
TTAAGCAATAAAGCGTGGCCGTGGCTCGCGTGCCTGCCCTCTGCTCCCTTCTGCCTTGGTGCCT
GTGTGTGAGTGTGGAAGCCAGGCAGGAGCCGCTGGCCCAGGAAATAACTAC

hide sequence

RefSeq Acc Id:

XM_011518181 ⟹ XP_011516483

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	9	133,460,441 - 133,470,848 (+)	NCBI

Sequence:

show sequence

CGGAGGGACCAGAAACCCCAGGGCGGGGGGGCGGCGGGGGCGGGGGTGGGGCACCGGCCTGGGG
CACGTGACTGAGCCCTCCCCCCGCTCCCCAGGGGCTTTTGTGAGACTTTCTCGGTGATGCTCAC
GGGGCGCATGCCCACCTGGCCCGTACTAAAGCGTCAACTGTTGACTTGGGCGTAGGTGACGGCA
GCCACATTGCTAACCTTTGGGCAAGGATTGTTTGTAAGGGAGGCGGGTGCACGGCTGGCTAGAT
TTCTGGCAGGAAGCCACTGGGCGGAAGTTTGCTGAGGGTCAGGTGGTGTCAGGGCACAGGTGGC
CCCTGGGGCCGCGGGGCAGTGAGCTGAGGGCCCGGCCTCTCCCTGGGTCCTCTGTCCGCTCTCA
TATCTCCCCCGTTGCTGCTGCCTTAGCCGCCTGTCACCGGCCTTCCTCCCCTTCTCCGCACGCA
TCCCAGTCACAGACCCTGACCTTAGGCTGCCAGGGAAGCTAGGCTCTTAAGCACAGCCAGAAAA
GGACAAAGAGGGAGGCAGGTCAGCTCCAGGAGTGAATGGAAGCCGTACAGCTGGCCTTCCAGGG
AAAGACAAGTCTGTCTGAGTGATACCCTTTCCTTTCCTGTCTGCCCTCAATCTTGTGGATTACT
GGAGTGGGCAAGGTCTTAGAGAATGTCTGTCGAGGATGTCTGCAGGTTTTAAACAGTGCCTGCC
TGGCAGAGAGGGCTAGCTCTGGGCCTGGGCAGGGCAGGCCCCATCAGCAATCCTGCCAGAAGGA
CCACCTTTTCAGGGTCACCTTGGGTTCCACAGCCTTTCCAGGTGGGTAGAGGGTGGAGGGAGGT
TGAGGCAGGAGGGTGCTGGGCTAGGAGTGTGCTGCCCTCGCTAGGCATGCCCTTATCCAGAGGC
AACGGATACGGTAGGGCAGGCCCTACCCCCAAATCACAAAAAGGCCCCGAGTTTGTGTCACTGC
TCTTCAGGGCAAGTACGCTTTTGACTTTGTAGGAGAGACTGGTGGGTTTGAAGTTAGGCATTGG
ATCCAGTCCTGTCATGTCTGGTTAGCTGTTTTCCCTGCAGATTAGGGTGGGCAGTGCAGTGGGG
TGACATGGTCAGTGGTGAGAAAGGAAAGGTCCTGACTATGGCCTGTAGGCCACACCTCCTTCCT
TCTTGGTCAGTGGCCCTGCCGACTCCCAGATTTGCTGTGGAGTCTTACTCAGTTCTGTGCCTCT
CAAAGTGAGGTACCTCTGCCTTTCCTGGGAGTTCCTGGGGCTCTGTTGGGTCTACAGATGAAGC
TTCAGGAGAAACTTGTGGCATTGCCCTGAGTTGTCAGTTGCATCTGCAGATTTTTGGGGGCATG
GTTATGTGAACATCAAAATGCTGTATTACAGGGTAGAATGCAAAAATGCAGGGTGTTTTAGAGA
TGCGGCAGGAGTTCAGACAAGGGTTGTGTGCCGGGCTGGTCCTTGGGTAAGGTTTTCCTCCTCC
AGGGTGAGGGGATCAGAGAGAGTACCTGGAGAGGGTCTACCCTGGGTCCTAAGAGCATCTGGAG
GTGATACCTTGGGAGGGGACAGGATTGCATGGTGACAGCCCCCTCACGTGGAAGATATCAGCAT
TGAGGCCCCCAAGTGGACATCCTCCAGCCCTTTATTGCTAAAGGATTCCTGGCTGGAGCCTGCT
GGTCTGGCTTGACACCTGGTCCTCCCCCAAGGCTGGCTGTGGGTTGGACAGCTGGGGTAGGGTT
GGAGCTGGAGGCCAAATGCTGACTGCAGCAGGAAGCACAGCCGAGCTGTCAGCTTGCGCGATCT
CTGGCCTCTTCAACTGCATCACCATCCACCCTCTGAACATTGCGGCCGGCGTGTGGATGATCAT
GAATGCCTTCATCTTGTTGCTGTGTGAGGCGCCCTTCTGCTGCCAGTTCATCGAGTTTGCAAAC
ACAGTGGCGGAGAAGGTGGACCGGCTGCGCTCCTGGCAGAAGGCTGTCTTCTACTGCGGGATGG
CGGTCGTTCCCATCGTCATCAGCCTGACCCTGACCACGCTGCTGGGCAACGCCATCGCCTTTGC
TACGGGGGTGCTGTACGGACTCTCTGCTCTGGGCAAAAAAGCCCAGACTGAGGCTGGTTCCTTC
GCAGCCCAGCATCCCAGGGAGCCTGGGCCATTCTCAGAGGGGACAAGACAGGCCTTTGCCACCC
CAGCAGTTGTCTCTGGGGAAATCAGAATGCCTGCAGGGGCGATGCGATCTCCTATGCCAGGATC
CAGCAGCAGAGGCAGCAGGCGGATGAGGAGAAGCTCGCGGAGACCCTGGAGGGGGAGCTGTGAA
GGGCTGGGCGCCCCTCCCTCCCTGTCCCCTCTTCTGGCTCTGTGTGGGTCCAAGTGAGGCCTGG
ACTGTCCACGCTGAGGCACAGCCTGGAGAGGGGCCTTTGCACGTGTCCCTACACCTGGAGTCCT
CTGCTCCTTTCTCCAGACTGGCTTAAGCCAGGAGCCACTGGCTGCTGGTGTGAGGGTCTGGGCT
GCTGGACTTGAGGCAGAGCCTGCAGCAGCTGTGTGGACACTACCCAGCCCTACTCCTCTGCTGG
GTGGGTCTGCAGATCTCACACCACAGACAGGGCTGCCTGTGACCTGCTGTGACCTGGGAGCAGC
TTCCCCTGGAGATGCTGGTCCTGGCTTGAGGGGAGGGGCAAGTGGGACCCTGCCACCTGGGCAC
TGAGCAGAGGGACCTCCCCCAGCTCTCTTAGCAGGTGGAGCCCCAGGGCCTGGGACAGCCTGCC
GCTGCCAGCAACCTCCCACTGCTGCCTAGGGTGCAGCGCCCACTGTCACCCTGCCTTCTGAAGA
AGCCCACAGGGCTCCTAAGGTGCACCCCGGTACCTGGAACTGCAGCCTTGGCAGTGACTGGACA
GCTGGGTGGGGGATGCTCCCTGCTGGCCCTGGGAACCTTGGACAGGCCACCTCAAGGCCCCTCG
GCTGCCCCTCCTCCCTGGGCCTGCTGGGGCCCCTAGGTTCTGCCCATCACCCCCCGCCCCTGCT
GGCCTTGGTGCTAAGGAAGTGGGGAGAGCAGGCTCTCCCTGGCACCGAGGGTGCCCACCCTCTC
CCTGGTGTGGCCCCGTCAACATCAGCCACAGCCCAGCCCCATTAGTGGGTTAGTGGGTCTGACC
TCAGCCCCACTCAGGTGCTCCTGCTGGCCTGCCCAAGCCCTGCCCTCAGGGAGCTTCTGCCTTT
TAAGAACTGGGCAGAGGCCACAGTCACCTCCCCACACAGAGCTGTCCCCACTGCCCTGGGTGCC
AGGCTGTCCGGAGCCAGGCCTACCCAGGGAGGATGCAGAGAGCTGGTGCCCAGGATGTGCACCC
CCATATTCCCTCTGCCCTGTGGCCTCAGCCCGCTGGCCTCTCTGACCGTGAGGCTGGCTCTCAG
CCATCGGGCAGGTGCCTGGTCGGGCCTGGCTTAGCCCAGGTGGGGTTTGGCAGAAGCGGGCGGG
TGTGGAAGATATTCCATCTGGGGCCAACCCCAGGCTGGGCCTGCGCTGAGCTTCTGGAGCGCAG
GTACTGGGTCTTGCTAAGTGAACTGTTTCCCAGGAACACCTCTCGGGCCCATCTGCGTCTGAGG
CTGGGAGTGGCATCTGAGGCCGGGAGTGGCATCTGAGGCCAGGAGTGGCAGGCTGGTGGGCTGG
GCGTGGGGTTTTCTGGGCCCTGCCCAGTACTGCCCTGGGGACTTGGTGGGCTCCTGGGTCAGCA
GCATCCCACCCCTGGGAGTCTGGCCAGCTGAGCCCCAGGGTGGCAGGGGCATTATAGCCTGGTG
GACATGTGCCTTCAGGGTTCCTCCGGGGCCACCTTCCTCAGGCCAGTGCTGGGTTCAAAGGGCT
GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTATATGTGTGTGGGTGCACACATCT
GTCCCATGTATGCAGTGAGACCTGTCTACCTCCCACAAGGAGCAAGGGCTCTGCCCGCCCTCTG
CTCATTCCTACCCAGGTAGTGGGACCCCGGGCCCCCTTCTGCCTGGCTTGCCTGCTTCTGCCCT
TTCCAGAGGGGTCTCACTGACAGCCAGAGACAGCAGGAGAAGGGTTGGCTGTGGATCAAGGAAG
GCTGCCCCTGTACCCTGTGGGGAAATGGTGGGTGCATGGCTGGATGCAGAGGTGGAAGGCCCTG
GGCCACAGGCGAGAGTGGGCGTGTCACCTGTCCCAGGTTCCCAGCAAGTCTGCAGCTGTGCAGT
CCTGGGGTCCCTGACCCTGTCGCCCAGGGGGCGTGCTGTCCAGCAGGGGCCCTGCCTTGCAAGG
AACGTCTCTTCCGGCGGCTGGGCCGCTCCTGCCTGGTCTGGGCTGTGTGTGGCGCCCTTTCCTC
CTTGTTTGTTCCTCTGTGTTCTGTGTGCGTCTTAAGCAATAAAGCGTGGCCGTGGCTCGCGTGC
CTGCCCTCTGCTCCCTTC

hide sequence

RefSeq Acc Id:

XM_011518184 ⟹ XP_011516486

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	9	133,461,255 - 133,470,848 (+)	NCBI

Sequence:

show sequence

AGAGGGTGGAGGGAGGTTGAGGCAGGAGGGTGCTGGGCTAGGAGTGTGCTGCCCTCGCTAGGCA
TGCCCTTATCCAGAGGCAACGGATACGGTAGGGCAGGCCCTACCCCCAAATCACAAAAAGGCCC
CGAGTTTGTGTCACTGCTCTTCAGGGCAAGTACGCTTTTGACTTTGTAGGAGAGACTGGTGGGT
TTGAAGTTAGGCATTGGATCCAGTCCTGTCATGTCTGGTTAGCTGTTTTCCCTGCAGATTAGGG
TGGGCAGTGCAGTGGGGTGACATGGTCAGTGGTGAGAAAGGAAAGGTCCTGACTATGGCCTGTA
GGCCACACCTCCTTCCTTCTTGGTCAGTGGCCCTGCCGACTCCCAGATTTGCTGTGGAGTCTTA
CTCAGTTCTGTGCCTCTCAAAGTGAGGTACCTCTGCCTTTCCTGGGAGTTCCTGGGGCTCTGTT
GGGTCTACAGATGAAGCTTCAGGAGAAACTTGTGGCATTGCCCTGAGTTGTCAGTTGCATCTGC
AGATTTTTGGGGGCATGGTTATGTGAACATCAAAATGCTGTATTACAGGGTAGAATGCAAAAAT
GCAGGGTGTTTTAGAGATGCGGCAGGAGTTCAGACAAGGGTTGTGTGCCGGGCTGGTCCTTGGG
TAAGGTTTTCCTCCTCCAGGGTGAGGGGATCAGAGAGAGTACCTGGAGAGGGTCTACCCTGGGT
CCTAAGAGCATCTGGAGGTGATACCTTGGGAGGGGACAGGATTGCATGGTGACAGCCCCCTCAC
GTGGAAGATATCAGCATTGAGGCCCCCAAGTGGACATCCTCCAGCCCTTTATTGCTAAAGGATT
CCTGGCTGGAGCCTGCTGGTCTGGCTTGACACCTGGTCCTCCCCCAAGGCTGGCTGTGGGTTGG
ACAGCTGGGGTAGGGTTGGAGCTGGAGGCCAAATGCTGACTGCAGCAGGAAGCACAGCCGAGCT
GTCAGCTTGCGCGATCTCTGGCCTCTTCAACTGCATCACCATCCACCCTCTGAACATTGCGGCC
GGCGTGTGGATGATGATGGCGGTCGTTCCCATCGTCATCAGCCTGACCCTGACCACGCTGCTGG
GCAACGCCATCGCCTTTGCTACGGGGGTGCTGTACGGACTCTCTGCTCTGGGCAAAAAAGCCCA
GACTGAGGCTGGTTCCTTCGCAGCCCAGCATCCCAGGGAGCCTGGGCCATTCTCAGAGGGGACA
AGACAGGCCTTTGCCACCCCAGCAGTTGTCTCTGGGGAAATCAGAATGCCTGCAGGGGCGATGC
GATCTCCTATGCCAGGATCCAGCAGCAGAGGCAGCAGGCGGATGAGGAGAAGCTCGCGGAGACC
CTGGAGGGGGAGCTGTGAAGGGCTGGGCGCCCCTCCCTCCCTGTCCCCTCTTCTGGCTCTGTGT
GGGTCCAAGTGAGGCCTGGACTGTCCACGCTGAGGCACAGCCTGGAGAGGGGCCTTTGCACGTG
TCCCTACACCTGGAGTCCTCTGCTCCTTTCTCCAGACTGGCTTAAGCCAGGAGCCACTGGCTGC
TGGTGTGAGGGTCTGGGCTGCTGGACTTGAGGCAGAGCCTGCAGCAGCTGTGTGGACACTACCC
AGCCCTACTCCTCTGCTGGGTGGGTCTGCAGATCTCACACCACAGACAGGGCTGCCTGTGACCT
GCTGTGACCTGGGAGCAGCTTCCCCTGGAGATGCTGGTCCTGGCTTGAGGGGAGGGGCAAGTGG
GACCCTGCCACCTGGGCACTGAGCAGAGGGACCTCCCCCAGCTCTCTTAGCAGGTGGAGCCCCA
GGGCCTGGGACAGCCTGCCGCTGCCAGCAACCTCCCACTGCTGCCTAGGGTGCAGCGCCCACTG
TCACCCTGCCTTCTGAAGAAGCCCACAGGGCTCCTAAGGTGCACCCCGGTACCTGGAACTGCAG
CCTTGGCAGTGACTGGACAGCTGGGTGGGGGATGCTCCCTGCTGGCCCTGGGAACCTTGGACAG
GCCACCTCAAGGCCCCTCGGCTGCCCCTCCTCCCTGGGCCTGCTGGGGCCCCTAGGTTCTGCCC
ATCACCCCCCGCCCCTGCTGGCCTTGGTGCTAAGGAAGTGGGGAGAGCAGGCTCTCCCTGGCAC
CGAGGGTGCCCACCCTCTCCCTGGTGTGGCCCCGTCAACATCAGCCACAGCCCAGCCCCATTAG
TGGGTTAGTGGGTCTGACCTCAGCCCCACTCAGGTGCTCCTGCTGGCCTGCCCAAGCCCTGCCC
TCAGGGAGCTTCTGCCTTTTAAGAACTGGGCAGAGGCCACAGTCACCTCCCCACACAGAGCTGT
CCCCACTGCCCTGGGTGCCAGGCTGTCCGGAGCCAGGCCTACCCAGGGAGGATGCAGAGAGCTG
GTGCCCAGGATGTGCACCCCCATATTCCCTCTGCCCTGTGGCCTCAGCCCGCTGGCCTCTCTGA
CCGTGAGGCTGGCTCTCAGCCATCGGGCAGGTGCCTGGTCGGGCCTGGCTTAGCCCAGGTGGGG
TTTGGCAGAAGCGGGCGGGTGTGGAAGATATTCCATCTGGGGCCAACCCCAGGCTGGGCCTGCG
CTGAGCTTCTGGAGCGCAGGTACTGGGTCTTGCTAAGTGAACTGTTTCCCAGGAACACCTCTCG
GGCCCATCTGCGTCTGAGGCTGGGAGTGGCATCTGAGGCCGGGAGTGGCATCTGAGGCCAGGAG
TGGCAGGCTGGTGGGCTGGGCGTGGGGTTTTCTGGGCCCTGCCCAGTACTGCCCTGGGGACTTG
GTGGGCTCCTGGGTCAGCAGCATCCCACCCCTGGGAGTCTGGCCAGCTGAGCCCCAGGGTGGCA
GGGGCATTATAGCCTGGTGGACATGTGCCTTCAGGGTTCCTCCGGGGCCACCTTCCTCAGGCCA
GTGCTGGGTTCAAAGGGCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTATATG
TGTGTGGGTGCACACATCTGTCCCATGTATGCAGTGAGACCTGTCTACCTCCCACAAGGAGCAA
GGGCTCTGCCCGCCCTCTGCTCATTCCTACCCAGGTAGTGGGACCCCGGGCCCCCTTCTGCCTG
GCTTGCCTGCTTCTGCCCTTTCCAGAGGGGTCTCACTGACAGCCAGAGACAGCAGGAGAAGGGT
TGGCTGTGGATCAAGGAAGGCTGCCCCTGTACCCTGTGGGGAAATGGTGGGTGCATGGCTGGAT
GCAGAGGTGGAAGGCCCTGGGCCACAGGCGAGAGTGGGCGTGTCACCTGTCCCAGGTTCCCAGC
AAGTCTGCAGCTGTGCAGTCCTGGGGTCCCTGACCCTGTCGCCCAGGGGGCGTGCTGTCCAGCA
GGGGCCCTGCCTTGCAAGGAACGTCTCTTCCGGCGGCTGGGCCGCTCCTGCCTGGTCTGGGCTG
TGTGTGGCGCCCTTTCCTCCTTGTTTGTTCCTCTGTGTTCTGTGTGCGTCTTAAGCAATAAAGC
GTGGCCGTGGCTCGCGTGCCTGCCCTCTGCTCCCTTC

hide sequence

RefSeq Acc Id:

XM_011518185 ⟹ XP_011516487

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	9	133,460,441 - 133,470,848 (+)	NCBI

Sequence:

show sequence

CGGAGGGACCAGAAACCCCAGGGCGGGGGGGCGGCGGGGGCGGGGGTGGGGCACCGGCCTGGGG
CACGTGACTGAGCCCTCCCCCCGCTCCCCAGGGGCTTTTGTGAGACTTTCTCGGTGATGCTCAC
GGGGCGCATGCCCACCTGGCCCGTACTAAAGCGTCAACTGTTGACTTGGGCGTAGGTGACGGCA
GCCACATTGCTAACCTTTGGGCAAGGATTGTTTGTAAGGGAGGCGGGTGCACGGCTGGCTAGAT
TTCTGGCAGGAAGCCACTGGGCGGAAGTTTGCTGAGGGTCAGGTGGTGTCAGGGCACAGGTGGC
CCCTGGGGCCGCGGGGCAGTGAGCTGAGGGCCCGGCCTCTCCCTGGGTCCTCTGTCCGCTCTCA
TATCTCCCCCGTTGCTGCTGCCTTAGCCGCCTGTCACCGGCCTTCCTCCCCTTCTCCGCACGCA
TCCCAGTCACAGACCCTGACCTTAGGCTGCCAGGGAAGCTAGGCTCTTAAGCACAGCCAGAAAA
GGACAAAGAGGGAGGCAGGTCAGCTCCAGGAGTGAATGGAAGCCGTACAGCTGGCCTTCCAGGG
AAAGACAAGTCTGTCTGAGTGATACCCTTTCCTTTCCTGTCTGCCCTCAATCTTGTGGATTACT
GGAGTGGGCAAGGTCTTAGAGAATGTCTGTCGAGGATGTCTGCAGGTTTTAAACAGTGCCTGCC
TGGCAGAGAGGGCTAGCTCTGGGCCTGGGCAGGGCAGGCCCCATCAGCAATCCTGCCAGAAGGA
CCACCTTTTCAGGGTCACCTTGGGTTCCACAGCCTTTCCAGGTGGGTAGAGGGTGGAGGGAGGT
TGAGGCAGGAGGGTGCTGGGCTAGGAGTGTGCTGCCCTCGCTAGGCATGCCCTTATCCAGAGGC
AACGGATACGGTAGGGCAGGCCCTACCCCCAAATCACAAAAAGGCCCCGAGTTTGTGTCACTGC
TCTTCAGGGCAAGTACGCTTTTGACTTTGTAGGAGAGACTGGTGGGTTTGAAGTTAGGCATTGG
ATCCAGTCCTGTCATGTCTGGTTAGCTGTTTTCCCTGCAGATTAGGGTGGGCAGTGCAGTGGGG
TGACATGGTCAGTGGTGAGAAAGGAAAGGTCCTGACTATGGCCTGTAGGCCACACCTCCTTCCT
TCTTGGTCAGTGGCCCTGCCGACTCCCAGATTTGCTGTGGAGTCTTACTCAGTTCTGTGCCTCT
CAAAGTGAGGTACCTCTGCCTTTCCTGGGAGTTCCTGGGGCTCTGTTGGGTCTACAGATGAAGC
TTCAGGAGAAACTTGTGGCATTGCCCTGAGTTGTCAGTTGCATCTGCAGATTTTTGGGGGCATG
GTTATGTGAACATCAAAATGCTGTATTACAGGGTAGAATGCAAAAATGCAGGGTGTTTTAGAGA
TGCGGCAGGAGTTCAGACAAGGGTTGTGTGCCGGGCTGGTCCTTGGGTAAGGTTTTCCTCCTCC
AGGGTGAGGGGATCAGAGAGAGTACCTGGAGAGGGTCTACCCTGGGTCCTAAGAGCATCTGGAG
GTGATACCTTGGGAGGGGACAGGATTGCATGGTGACAGCCCCCTCACGTGGAAGATATCAGCAT
TGAGGCCCCCAAGTGGACATCCTCCAGCCCTTTATTGCTAAAGGATTCCTGGCTGGAGCCTGCT
GGTCTGGCTTGACACCTGGTCCTCCCCCAAGGCTGGCTGTGGGTTGGACAGCTGGGGTAGGGTT
GGAGCTGGAGGCCAAATGCTGACTGCAGCAGGAAGCACAGCCGAGCTGTCAGCTTGCGCGATCT
CTGGCCTCTTCAACTGCATCACCATCCACCCTCTGAACATTGCGGCCGGCGTGTGGATGATCAT
GAATGCCTTCATCTTGTTGCTGTGTGAGGCGCCCTTCTGCTGCCAGTTCATCGAGTTTGCAAAC
ACAGTGGCGGAGAAGGTGGACCGGCTGCGCTCCTGGCAGAAGGCTGTCTTCTACTGCGGGATGG
CGGTCGTTCCCATCGTCATCAGCCTGACCCTGACCACGCTGCTGGGCAACGCCATCGCCTTTGC
TACGGGGGTGCTGTACGGACTCTCTGCTCTGGGCAAAAAGGGCGATGCGATCTCCTATGCCAGG
ATCCAGCAGCAGAGGCAGCAGGCGGATGAGGAGAAGCTCGCGGAGACCCTGGAGGGGGAGCTGT
GAAGGGCTGGGCGCCCCTCCCTCCCTGTCCCCTCTTCTGGCTCTGTGTGGGTCCAAGTGAGGCC
TGGACTGTCCACGCTGAGGCACAGCCTGGAGAGGGGCCTTTGCACGTGTCCCTACACCTGGAGT
CCTCTGCTCCTTTCTCCAGACTGGCTTAAGCCAGGAGCCACTGGCTGCTGGTGTGAGGGTCTGG
GCTGCTGGACTTGAGGCAGAGCCTGCAGCAGCTGTGTGGACACTACCCAGCCCTACTCCTCTGC
TGGGTGGGTCTGCAGATCTCACACCACAGACAGGGCTGCCTGTGACCTGCTGTGACCTGGGAGC
AGCTTCCCCTGGAGATGCTGGTCCTGGCTTGAGGGGAGGGGCAAGTGGGACCCTGCCACCTGGG
CACTGAGCAGAGGGACCTCCCCCAGCTCTCTTAGCAGGTGGAGCCCCAGGGCCTGGGACAGCCT
GCCGCTGCCAGCAACCTCCCACTGCTGCCTAGGGTGCAGCGCCCACTGTCACCCTGCCTTCTGA
AGAAGCCCACAGGGCTCCTAAGGTGCACCCCGGTACCTGGAACTGCAGCCTTGGCAGTGACTGG
ACAGCTGGGTGGGGGATGCTCCCTGCTGGCCCTGGGAACCTTGGACAGGCCACCTCAAGGCCCC
TCGGCTGCCCCTCCTCCCTGGGCCTGCTGGGGCCCCTAGGTTCTGCCCATCACCCCCCGCCCCT
GCTGGCCTTGGTGCTAAGGAAGTGGGGAGAGCAGGCTCTCCCTGGCACCGAGGGTGCCCACCCT
CTCCCTGGTGTGGCCCCGTCAACATCAGCCACAGCCCAGCCCCATTAGTGGGTTAGTGGGTCTG
ACCTCAGCCCCACTCAGGTGCTCCTGCTGGCCTGCCCAAGCCCTGCCCTCAGGGAGCTTCTGCC
TTTTAAGAACTGGGCAGAGGCCACAGTCACCTCCCCACACAGAGCTGTCCCCACTGCCCTGGGT
GCCAGGCTGTCCGGAGCCAGGCCTACCCAGGGAGGATGCAGAGAGCTGGTGCCCAGGATGTGCA
CCCCCATATTCCCTCTGCCCTGTGGCCTCAGCCCGCTGGCCTCTCTGACCGTGAGGCTGGCTCT
CAGCCATCGGGCAGGTGCCTGGTCGGGCCTGGCTTAGCCCAGGTGGGGTTTGGCAGAAGCGGGC
GGGTGTGGAAGATATTCCATCTGGGGCCAACCCCAGGCTGGGCCTGCGCTGAGCTTCTGGAGCG
CAGGTACTGGGTCTTGCTAAGTGAACTGTTTCCCAGGAACACCTCTCGGGCCCATCTGCGTCTG
AGGCTGGGAGTGGCATCTGAGGCCGGGAGTGGCATCTGAGGCCAGGAGTGGCAGGCTGGTGGGC
TGGGCGTGGGGTTTTCTGGGCCCTGCCCAGTACTGCCCTGGGGACTTGGTGGGCTCCTGGGTCA
GCAGCATCCCACCCCTGGGAGTCTGGCCAGCTGAGCCCCAGGGTGGCAGGGGCATTATAGCCTG
GTGGACATGTGCCTTCAGGGTTCCTCCGGGGCCACCTTCCTCAGGCCAGTGCTGGGTTCAAAGG
GCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTATATGTGTGTGGGTGCACACA
TCTGTCCCATGTATGCAGTGAGACCTGTCTACCTCCCACAAGGAGCAAGGGCTCTGCCCGCCCT
CTGCTCATTCCTACCCAGGTAGTGGGACCCCGGGCCCCCTTCTGCCTGGCTTGCCTGCTTCTGC
CCTTTCCAGAGGGGTCTCACTGACAGCCAGAGACAGCAGGAGAAGGGTTGGCTGTGGATCAAGG
AAGGCTGCCCCTGTACCCTGTGGGGAAATGGTGGGTGCATGGCTGGATGCAGAGGTGGAAGGCC
CTGGGCCACAGGCGAGAGTGGGCGTGTCACCTGTCCCAGGTTCCCAGCAAGTCTGCAGCTGTGC
AGTCCTGGGGTCCCTGACCCTGTCGCCCAGGGGGCGTGCTGTCCAGCAGGGGCCCTGCCTTGCA
AGGAACGTCTCTTCCGGCGGCTGGGCCGCTCCTGCCTGGTCTGGGCTGTGTGTGGCGCCCTTTC
CTCCTTGTTTGTTCCTCTGTGTTCTGTGTGCGTCTTAAGCAATAAAGCGTGGCCGTGGCTCGCG
TGCCTGCCCTCTGCTCCCTTC

hide sequence

RefSeq Acc Id:

XM_024447398 ⟹ XP_024303166

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	9	133,460,441 - 133,470,848 (+)	NCBI

Sequence:

show sequence

CGGAGGGACCAGAAACCCCAGGGCGGGGGGGCGGCGGGGGCGGGGGTGGGGCACCGGCCTGGGG
CACGTGACTGAGCCCTCCCCCCGCTCCCCAGGGGCTTTTGTGAGACTTTCTCGGTGATGCTCAC
GGGGCGCATGCCCACCTGGCCCGTACTAAAGCGTCAACTGTTGACTTGGGCGTAGGTGACGGCA
GCCACATTGCTAACCTTTGGGCAAGGATTGTTTGTAAGGGAGGCGGGTGCACGGCTGGCTAGAT
TTCTGGCAGGAAGCCACTGGGCGGAAGTTTGCTGAGGGTCAGGTGGTGTCAGGGCACAGGTGGC
CCCTGGGGCCGCGGGGCAGTGAGCTGAGGGCCCGGCCTCTCCCTGGGTCCTCTGTCCGCTCTCA
TATCTCCCCCGTTGCTGCTGCCTTAGCCGCCTGTCACCGGCCTTCCTCCCCTTCTCCGCACGCA
TCCCAGTCACAGACCCTGACCTTAGGCTGCCAGGGAAGCTAGGCTCTTAAGCACAGCCAGAAAA
GGACAAAGAGGGAGGCAGGTCAGCTCCAGGAGTGAATGGAAGCCGTACAGCTGGCCTTCCAGGG
AAAGACAAGTCTGTCTGAGTGATACCCTTTCCTTTCCTGTCTGCCCTCAATCTTGTGGATTACT
GGAGTGGGCAAGGTCTTAGAGAATGTCTGTCGAGGATGTCTGCAGGTTTTAAACAGTGCCTGCC
TGGCAGAGAGGGCTAGCTCTGGGCCTGGGCAGGGCAGGCCCCATCAGCAATCCTGCCAGAAGGA
CCACCTTTTCAGGGTCACCTTGGGTTCCACAGCCTTTCCAGCTTGCGCGATCTCTGGCCTCTTC
AACTGCATCACCATCCACCCTCTGAACATTGCGGCCGGCGTGTGGATGATCATGAATGCCTTCA
TCTTGTTGCTGTGTGAGGCGCCCTTCTGCTGCCAGTTCATCGAGTTTGCAAACACAGTGGCGGA
GAAGGTGGACCGGCTGCGCTCCTGGCAGAAGGCTGTCTTCTACTGCGGGATGGCGGTCGTTCCC
ATCGTCATCAGCCTGACCCTGACCACGCTGCTGGGCAACGCCATCGCCTTTGCTACGGGGGTGC
TGTACGGACTCTCTGCTCTGGGCAAAAAAGCCCAGACTGAGGCTGGTTCCTTCGCAGCCCAGCA
TCCCAGGGAGCCTGGGCCATTCTCAGAGGGGACAAGACAGGCCTTTGCCACCCCAGCAGTTGTC
TCTGGGGAAATCAGAATGCCTGCAGGGGCGATGCGATCTCCTATGCCAGGATCCAGCAGCAGAG
GCAGCAGGCGGATGAGGAGAAGCTCGCGGAGACCCTGGAGGGGGAGCTGTGAAGGGCTGGGCGC
CCCTCCCTCCCTGTCCCCTCTTCTGGCTCTGTGTGGGTCCAAGTGAGGCCTGGACTGTCCACGC
TGAGGCACAGCCTGGAGAGGGGCCTTTGCACGTGTCCCTACACCTGGAGTCCTCTGCTCCTTTC
TCCAGACTGGCTTAAGCCAGGAGCCACTGGCTGCTGGTGTGAGGGTCTGGGCTGCTGGACTTGA
GGCAGAGCCTGCAGCAGCTGTGTGGACACTACCCAGCCCTACTCCTCTGCTGGGTGGGTCTGCA
GATCTCACACCACAGACAGGGCTGCCTGTGACCTGCTGTGACCTGGGAGCAGCTTCCCCTGGAG
ATGCTGGTCCTGGCTTGAGGGGAGGGGCAAGTGGGACCCTGCCACCTGGGCACTGAGCAGAGGG
ACCTCCCCCAGCTCTCTTAGCAGGTGGAGCCCCAGGGCCTGGGACAGCCTGCCGCTGCCAGCAA
CCTCCCACTGCTGCCTAGGGTGCAGCGCCCACTGTCACCCTGCCTTCTGAAGAAGCCCACAGGG
CTCCTAAGGTGCACCCCGGTACCTGGAACTGCAGCCTTGGCAGTGACTGGACAGCTGGGTGGGG
GATGCTCCCTGCTGGCCCTGGGAACCTTGGACAGGCCACCTCAAGGCCCCTCGGCTGCCCCTCC
TCCCTGGGCCTGCTGGGGCCCCTAGGTTCTGCCCATCACCCCCCGCCCCTGCTGGCCTTGGTGC
TAAGGAAGTGGGGAGAGCAGGCTCTCCCTGGCACCGAGGGTGCCCACCCTCTCCCTGGTGTGGC
CCCGTCAACATCAGCCACAGCCCAGCCCCATTAGTGGGTTAGTGGGTCTGACCTCAGCCCCACT
CAGGTGCTCCTGCTGGCCTGCCCAAGCCCTGCCCTCAGGGAGCTTCTGCCTTTTAAGAACTGGG
CAGAGGCCACAGTCACCTCCCCACACAGAGCTGTCCCCACTGCCCTGGGTGCCAGGCTGTCCGG
AGCCAGGCCTACCCAGGGAGGATGCAGAGAGCTGGTGCCCAGGATGTGCACCCCCATATTCCCT
CTGCCCTGTGGCCTCAGCCCGCTGGCCTCTCTGACCGTGAGGCTGGCTCTCAGCCATCGGGCAG
GTGCCTGGTCGGGCCTGGCTTAGCCCAGGTGGGGTTTGGCAGAAGCGGGCGGGTGTGGAAGATA
TTCCATCTGGGGCCAACCCCAGGCTGGGCCTGCGCTGAGCTTCTGGAGCGCAGGTACTGGGTCT
TGCTAAGTGAACTGTTTCCCAGGAACACCTCTCGGGCCCATCTGCGTCTGAGGCTGGGAGTGGC
ATCTGAGGCCGGGAGTGGCATCTGAGGCCAGGAGTGGCAGGCTGGTGGGCTGGGCGTGGGGTTT
TCTGGGCCCTGCCCAGTACTGCCCTGGGGACTTGGTGGGCTCCTGGGTCAGCAGCATCCCACCC
CTGGGAGTCTGGCCAGCTGAGCCCCAGGGTGGCAGGGGCATTATAGCCTGGTGGACATGTGCCT
TCAGGGTTCCTCCGGGGCCACCTTCCTCAGGCCAGTGCTGGGTTCAAAGGGCTGTGTGTGTGTG
TGTGTGTGTGTGTGTGTGTGTGTGTATGTATATGTGTGTGGGTGCACACATCTGTCCCATGTAT
GCAGTGAGACCTGTCTACCTCCCACAAGGAGCAAGGGCTCTGCCCGCCCTCTGCTCATTCCTAC
CCAGGTAGTGGGACCCCGGGCCCCCTTCTGCCTGGCTTGCCTGCTTCTGCCCTTTCCAGAGGGG
TCTCACTGACAGCCAGAGACAGCAGGAGAAGGGTTGGCTGTGGATCAAGGAAGGCTGCCCCTGT
ACCCTGTGGGGAAATGGTGGGTGCATGGCTGGATGCAGAGGTGGAAGGCCCTGGGCCACAGGCG
AGAGTGGGCGTGTCACCTGTCCCAGGTTCCCAGCAAGTCTGCAGCTGTGCAGTCCTGGGGTCCC
TGACCCTGTCGCCCAGGGGGCGTGCTGTCCAGCAGGGGCCCTGCCTTGCAAGGAACGTCTCTTC
CGGCGGCTGGGCCGCTCCTGCCTGGTCTGGGCTGTGTGTGGCGCCCTTTCCTCCTTGTTTGTTC
CTCTGTGTTCTGTGTGCGTCTTAAGCAATAAAGCGTGGCCGTGGCTCGCGTGCCTGCCCTCTGC
TCCCTTC

hide sequence

RefSeq Acc Id:

XM_054361865 ⟹ XP_054217840

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	9	145,674,883 - 145,685,255 (+)	NCBI

RefSeq Acc Id:

XM_054361866 ⟹ XP_054217841

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	9	145,674,883 - 145,685,255 (+)	NCBI

RefSeq Acc Id:

XM_054361867 ⟹ XP_054217842

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	9	145,674,420 - 145,685,255 (+)	NCBI

RefSeq Acc Id:

XM_054361868 ⟹ XP_054217843

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	9	145,675,699 - 145,685,255 (+)	NCBI

RefSeq Acc Id:

XM_054361869 ⟹ XP_054217844

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	9	145,674,883 - 145,685,255 (+)	NCBI

Protein Sequences


Protein RefSeqs	NP_001129247	(Get FASTA)	NCBI Sequence Viewer
	NP_001229298	(Get FASTA)	NCBI Sequence Viewer
	NP_001229299	(Get FASTA)	NCBI Sequence Viewer
	NP_060056	(Get FASTA)	NCBI Sequence Viewer
	XP_011516483	(Get FASTA)	NCBI Sequence Viewer
	XP_011516486	(Get FASTA)	NCBI Sequence Viewer
	XP_011516487	(Get FASTA)	NCBI Sequence Viewer
	XP_024303166	(Get FASTA)	NCBI Sequence Viewer
	XP_054187546	(Get FASTA)	NCBI Sequence Viewer
	XP_054187547	(Get FASTA)	NCBI Sequence Viewer
	XP_054187548	(Get FASTA)	NCBI Sequence Viewer
	XP_054187549	(Get FASTA)	NCBI Sequence Viewer
	XP_054217840	(Get FASTA)	NCBI Sequence Viewer
	XP_054217841	(Get FASTA)	NCBI Sequence Viewer
	XP_054217842	(Get FASTA)	NCBI Sequence Viewer
	XP_054217843	(Get FASTA)	NCBI Sequence Viewer
	XP_054217844	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAH30558	(Get FASTA)	NCBI Sequence Viewer
	AAQ88817	(Get FASTA)	NCBI Sequence Viewer
	BAC11245	(Get FASTA)	NCBI Sequence Viewer
	BAC11606	(Get FASTA)	NCBI Sequence Viewer
	BAC11691	(Get FASTA)	NCBI Sequence Viewer
	BAH12324	(Get FASTA)	NCBI Sequence Viewer
	BAH12877	(Get FASTA)	NCBI Sequence Viewer
	BAH14205	(Get FASTA)	NCBI Sequence Viewer
	CAB66156	(Get FASTA)	NCBI Sequence Viewer
	CAF86035	(Get FASTA)	NCBI Sequence Viewer
	CAI72107	(Get FASTA)	NCBI Sequence Viewer
	CAI72193	(Get FASTA)	NCBI Sequence Viewer
	EAW88089	(Get FASTA)	NCBI Sequence Viewer
	EAW88090	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000291722
	ENSP00000291722.7
	ENSP00000317121
	ENSP00000317121.4
	ENSP00000414495.1
	ENSP00000440832
	ENSP00000440832.1
	ENSP00000444328
	ENSP00000444328.1
	ENSP00000485922.1
	ENSP00000486098.1
	ENSP00000486696.1
	ENSP00000486812.1
GenBank Protein	Q9UGQ2	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_060056 ⟸ NM_017586
- Peptide Label:	isoform a
- UniProtKB:	Q5SXD4 (UniProtKB/Swiss-Prot), F5GXX4 (UniProtKB/Swiss-Prot), B7Z5E1 (UniProtKB/Swiss-Prot), B7Z3T8 (UniProtKB/Swiss-Prot), Q8NBM6 (UniProtKB/Swiss-Prot), Q9UGQ2 (UniProtKB/Swiss-Prot), B7Z969 (UniProtKB/TrEMBL)
- Sequence:	show sequence MSSSGGAPGASASSAPPAQEEGMTWWYRWLCRLSGVLGAVSCAISGLFNCITIHPLNIAAGVWM IMNAFILLLCEAPFCCQFIEFANTVAEKVDRLRSWQKAVFYCGMAVVPIVISLTLTTLLGNAIA FATGVLYGLSALGKKGDAISYARIQQQRQQADEEKLAETLEGEL hide sequence

RefSeq Acc Id:	NP_001129247 ⟸ NM_001135775
- Peptide Label:	isoform b
- UniProtKB:	Q9UGQ2 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MSSSGGAPGASASSAPPAQEEGMTWWYRWLCRLSGVLGAVSCAISGLFNCITIHPLNIAAGVWM MMAVVPIVISLTLTTLLGNAIAFATGVLYGLSALGKKGDAISYARIQQQRQQADEEKLAETLEG EL hide sequence

RefSeq Acc Id:	NP_001229298 ⟸ NM_001242369
- Peptide Label:	isoform c
- UniProtKB:	Q9UGQ2 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MSSSGGAPGASASSAPPAQEEGMTWWYRWLCRLSGVLGAVSCAISGLFNCITIHPLNIAAGVWM IMNAFILLLCEAPFCCQFIEFANTVAEKVDRLRSWQKAVFYCGMAVVPIVISLTLTTLLGNAIA FATGVLYGLSALGKKAQTEAGSFAAQHPREPGPFSEGTRQAFATPAVVSGEIRMPAGAMRSPMP GSSSRGSRRMRRSSRRPWRGSCEGLGAPPSLSPLLALCGSK hide sequence

RefSeq Acc Id:	NP_001229299 ⟸ NM_001242370
- Peptide Label:	isoform d
- UniProtKB:	Q9UGQ2 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MSSSGGAPGASASSAPPAQEEGMTWWYRWLCRLSGVLGAVSCAISGLFNCITIHPLNIAAGVWM MMAVVPIVISLTLTTLLGNAIAFATGVLYGLSALGKKAQTEAGSFAAQHPREPGPFSEGTRQAF ATPAVVSGEIRMPAGAMRSPMPGSSSRGSRRMRRSSRRPWRGSCEGLGAPPSLSPLLALCGSK hide sequence

RefSeq Acc Id:

XP_011516483 ⟸ XM_011518181

- Peptide Label:

isoform X1

- Sequence:

show sequence

MLTAAGSTAELSACAISGLFNCITIHPLNIAAGVWMIMNAFILLLCEAPFCCQFIEFANTVAEK
VDRLRSWQKAVFYCGMAVVPIVISLTLTTLLGNAIAFATGVLYGLSALGKKAQTEAGSFAAQHP
REPGPFSEGTRQAFATPAVVSGEIRMPAGAMRSPMPGSSSRGSRRMRRSSRRPWRGSCEGLGAP
PSLSPLLALCGSK

hide sequence

RefSeq Acc Id:	XP_011516486 ⟸ XM_011518184
- Peptide Label:	isoform X3
- Sequence:	show sequence MLTAAGSTAELSACAISGLFNCITIHPLNIAAGVWMMMAVVPIVISLTLTTLLGNAIAFATGVL YGLSALGKKAQTEAGSFAAQHPREPGPFSEGTRQAFATPAVVSGEIRMPAGAMRSPMPGSSSRG SRRMRRSSRRPWRGSCEGLGAPPSLSPLLALCGSK hide sequence

RefSeq Acc Id:	XP_011516487 ⟸ XM_011518185
- Peptide Label:	isoform X4
- UniProtKB:	B7Z969 (UniProtKB/TrEMBL)
- Sequence:	show sequence MLTAAGSTAELSACAISGLFNCITIHPLNIAAGVWMIMNAFILLLCEAPFCCQFIEFANTVAEK VDRLRSWQKAVFYCGMAVVPIVISLTLTTLLGNAIAFATGVLYGLSALGKKGDAISYARIQQQR QQADEEKLAETLEGEL hide sequence

RefSeq Acc Id:	XP_024303166 ⟸ XM_024447398
- Peptide Label:	isoform X2
- Sequence:	show sequence MIMNAFILLLCEAPFCCQFIEFANTVAEKVDRLRSWQKAVFYCGMAVVPIVISLTLTTLLGNAI AFATGVLYGLSALGKKAQTEAGSFAAQHPREPGPFSEGTRQAFATPAVVSGEIRMPAGAMRSPM PGSSSRGSRRMRRSSRRPWRGSCEGLGAPPSLSPLLALCGSK hide sequence

RefSeq Acc Id:

ENSP00000291722 ⟸ ENST00000291722

RefSeq Acc Id:

ENSP00000444328 ⟸ ENST00000542192

RefSeq Acc Id:

ENSP00000414495 ⟸ ENST00000444798

RefSeq Acc Id:

ENSP00000317121 ⟸ ENST00000316948

RefSeq Acc Id:

ENSP00000440832 ⟸ ENST00000540581

RefSeq Acc Id:	XP_054217842 ⟸ XM_054361867
- Peptide Label:	isoform X5

RefSeq Acc Id:	XP_054217840 ⟸ XM_054361865
- Peptide Label:	isoform X1

RefSeq Acc Id:	XP_054217844 ⟸ XM_054361869
- Peptide Label:	isoform X4

RefSeq Acc Id:	XP_054217841 ⟸ XM_054361866
- Peptide Label:	isoform X2

RefSeq Acc Id:	XP_054217843 ⟸ XM_054361868
- Peptide Label:	isoform X3

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q9UGQ2-F1-model_v2	AlphaFold	Q9UGQ2	1-172	view protein structure

Promoters

RGD ID:

7216551

Promoter ID:

EPDNEW_H14022

Type:

initiation region

Name:

CACFD1_1

Description:

calcium channel flower domain containing 1

SO ACC ID:

SO:0000170

Source:

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

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	9	133,460,014 - 133,460,074	EPDNEW

RGD ID:

6807346

Promoter ID:

HG_KWN:65459

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

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

Transcripts:

OTTHUMT00000054915, OTTHUMT00000054916, OTTHUMT00000054917, OTTHUMT00000054918, UC004CED.1, UC010NAN.1

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	9	135,314,421 - 135,315,087 (+)	MPROMDB

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:1365	AgrOrtholog
COSMIC	CACFD1	COSMIC
Ensembl Genes	ENSG00000160325	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	ENSG00000280479	UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000291722	ENTREZGENE
	ENST00000291722.11	UniProtKB/Swiss-Prot
	ENST00000316948	ENTREZGENE
	ENST00000316948.9	UniProtKB/Swiss-Prot
	ENST00000444798.1	UniProtKB/TrEMBL
	ENST00000540581	ENTREZGENE
	ENST00000540581.5	UniProtKB/Swiss-Prot
	ENST00000542192	ENTREZGENE
	ENST00000542192.5	UniProtKB/Swiss-Prot
	ENST00000625979.2	UniProtKB/Swiss-Prot
	ENST00000627083.2	UniProtKB/Swiss-Prot
	ENST00000629431.2	UniProtKB/Swiss-Prot
	ENST00000630997.2	UniProtKB/Swiss-Prot
GTEx	ENSG00000160325	GTEx
	ENSG00000280479	GTEx
HGNC ID	HGNC:1365	ENTREZGENE
Human Proteome Map	CACFD1	Human Proteome Map
InterPro	TVP18/Ca-channel_flower	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	hsa:11094	UniProtKB/Swiss-Prot
NCBI Gene	11094	ENTREZGENE
OMIM	613104	OMIM
PANTHER	CALCIUM CHANNEL FLOWER HOMOLOG	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	PTHR13314	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam	Cg6151-P	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA25982	PharmGKB
SMART	Cg6151-P	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt	B7Z3T8	ENTREZGENE
	B7Z5E1	ENTREZGENE
	B7Z969	ENTREZGENE, UniProtKB/TrEMBL
	F5GXX4	ENTREZGENE
	F6TGH8_HUMAN	UniProtKB/TrEMBL
	FLOWR_HUMAN	UniProtKB/Swiss-Prot
	Q5SXD4	ENTREZGENE
	Q8NBM6	ENTREZGENE
	Q9UGQ2	ENTREZGENE
UniProt Secondary	B7Z3T8	UniProtKB/Swiss-Prot
	B7Z5E1	UniProtKB/Swiss-Prot
	F5GXX4	UniProtKB/Swiss-Prot
	Q5SXD4	UniProtKB/Swiss-Prot
	Q8NBM6	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2012-03-13	CACFD1	calcium channel flower domain containing 1	C9orf7	chromosome 9 open reading frame 7	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