CFAP90 (cilia and flagella associated protein 90)

Gene: CFAP90 (cilia and flagella associated protein 90) Homo sapiens

Analyze

Symbol:

CFAP90

Name:

cilia and flagella associated protein 90

RGD ID:

2298811

HGNC Page

HGNC:27028

Description:

Located in axoneme and ciliary basal body.

Type:

protein-coding

RefSeq Status:

VALIDATED

Previously known as:

C5orf49; chromosome 5 open reading frame 49; cilia- and flagella-associated protein 90; hypothetical protein LOC134121; uncharacterized protein C5orf49; uncharacterized protein CFAP90

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	5	7,830,378 - 7,851,133 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	5	7,830,378 - 7,851,151 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	5	7,830,491 - 7,851,246 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	5	7,884,511 - 7,904,264 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	5	7,872,579 - 7,892,308 (-)	NCBI		Celera
Cytogenetic Map	5	p15.31	NCBI
HuRef	5	7,812,253 - 7,833,342 (-)	NCBI		HuRef
CHM1_1	5	7,830,570 - 7,851,693 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	5	7,769,514 - 7,790,256 (-)	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

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

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

6-propyl-2-thiouracil (ISO)

antirheumatic drug (EXP)

benzo[a]pyrene (EXP)

bisphenol A (ISO)

Cuprizon (ISO)

Gene Ontology Annotations Click to see Annotation Detail View

Cellular Component

axonemal B tubule inner sheath (IEA,ISO)

axoneme (IDA)

cell projection (IEA)

ciliary basal body (IDA)

cytoplasm (IEA)

cytoskeleton (IEA)

Molecular Function

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:20379614	PMID:23169490	PMID:29257953	PMID:32296183	PMID:36191189

Genomics

Comparative Map Data

CFAP90
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	5	7,830,378 - 7,851,133 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	5	7,830,378 - 7,851,151 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	5	7,830,491 - 7,851,246 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	5	7,884,511 - 7,904,264 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	5	7,872,579 - 7,892,308 (-)	NCBI		Celera
Cytogenetic Map	5	p15.31	NCBI
HuRef	5	7,812,253 - 7,833,342 (-)	NCBI		HuRef
CHM1_1	5	7,830,570 - 7,851,693 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	5	7,769,514 - 7,790,256 (-)	NCBI		T2T-CHM13v2.0

Cfap90
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	13	68,745,558 - 68,762,350 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	13	68,745,540 - 68,762,350 (+)	Ensembl		GRCm39 Ensembl
GRCm38	13	68,597,439 - 68,614,231 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	13	68,597,421 - 68,614,231 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	13	68,736,316 - 68,753,108 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	13	69,064,801 - 69,081,603 (+)	NCBI		MGSCv36	mm8
Celera	13	70,957,259 - 70,973,445 (+)	NCBI		Celera
Cytogenetic Map	13	B3	NCBI
cM Map	13	35.55	NCBI

Cfap90
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	1	36,654,287 - 36,678,303 (-)	NCBI		GRCr8
mRatBN7.2	1	34,825,894 - 34,849,916 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	1	34,825,894 - 34,850,138 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	1	34,687,213 - 34,711,254 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	1	40,678,065 - 40,702,106 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	1	34,852,793 - 34,876,807 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	1	37,702,041 - 37,726,162 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	1	37,702,041 - 37,726,151 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	1	39,083,665 - 39,107,716 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	17	5,044,084 - 5,069,032 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	17	5,044,090 - 5,069,662 (-)	NCBI
Celera	1	33,395,288 - 33,419,581 (-)	NCBI		Celera
Cytogenetic Map	1	p11	NCBI

Cfap90
(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_004955504	5,380,575 - 5,395,166 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955504	5,380,575 - 5,395,166 (-)	NCBI	ChiLan1.0	ChiLan1.0

CFAP90
(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	4	8,085,098 - 8,106,587 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	5	6,236,535 - 6,260,196 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	5	8,156,838 - 8,178,329 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	5	7,978,684 - 7,999,876 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	5	7,978,684 - 7,999,876 (-)	Ensembl	panpan1.1		panPan2

CFAP90
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	34	6,132,731 - 6,136,340 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	34	6,133,267 - 6,136,301 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	34	10,628,123 - 10,644,465 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	34	6,025,559 - 6,041,883 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	34	6,025,601 - 6,041,844 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	34	6,075,303 - 6,091,642 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	34	6,056,069 - 6,072,370 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	34	6,268,962 - 6,285,310 (+)	NCBI		UU_Cfam_GSD_1.0

Cfap90
(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_024407213	239,042,699 - 239,060,481 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936643	342,561 - 359,902 (-)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936643	342,292 - 359,984 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

CFAP90
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	16	74,288,049 - 74,302,047 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	16	74,288,038 - 74,302,052 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	16	80,340,678 - 80,355,084 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

CFAP90
(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	4	7,418,409 - 7,439,389 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	4	7,419,593 - 7,438,946 (-)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666064	21,177,185 - 21,198,839 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Cfap90
(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_004624751	5,413,401 - 5,428,093 (-)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624751	5,409,850 - 5,428,096 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in CFAP90
2 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 5p15.33-15.1(chr5:49978-15678451)x1	copy number loss	See cases [RCV000050295]	Chr5:49978..15678451 [GRCh38] Chr5:50093..15678560 [GRCh37] Chr5:103093..15731560 [NCBI36] Chr5:5p15.33-15.1	pathogenic
GRCh38/hg38 5p15.33-12(chr5:54839-45649861)x3	copy number gain	See cases [RCV000051810]	Chr5:54839..45649861 [GRCh38] Chr5:54954..45649963 [GRCh37] Chr5:107954..45685720 [NCBI36] Chr5:5p15.33-12	pathogenic
GRCh38/hg38 5p15.33-13.2(chr5:54839-35680845)x3	copy number gain	See cases [RCV000051811]	Chr5:54839..35680845 [GRCh38] Chr5:54954..35680947 [GRCh37] Chr5:107954..35716704 [NCBI36] Chr5:5p15.33-13.2	pathogenic
GRCh38/hg38 5p15.33-15.31(chr5:21949-8872509)x3	copy number gain	See cases [RCV000051808]	Chr5:21949..8872509 [GRCh38] Chr5:21949..8872621 [GRCh37] Chr5:74949..8925621 [NCBI36] Chr5:5p15.33-15.31	pathogenic
GRCh38/hg38 5p15.33-15.31(chr5:49778-8872509)x3	copy number gain	See cases [RCV000051809]	Chr5:49778..8872509 [GRCh38] Chr5:49893..8872621 [GRCh37] Chr5:102893..8925621 [NCBI36] Chr5:5p15.33-15.31	pathogenic
GRCh38/hg38 5p15.33-14.3(chr5:22149-23132046)x1	copy number loss	See cases [RCV000053398]	Chr5:22149..23132046 [GRCh38] Chr5:22149..23132155 [GRCh37] Chr5:75149..23167912 [NCBI36] Chr5:5p15.33-14.3	pathogenic
GRCh38/hg38 5p15.33-15.2(chr5:22149-12004091)x1	copy number loss	See cases [RCV000053399]	Chr5:22149..12004091 [GRCh38] Chr5:22149..12004203 [GRCh37] Chr5:75149..12057203 [NCBI36] Chr5:5p15.33-15.2	pathogenic
GRCh38/hg38 5p15.33-15.1(chr5:22149-17425613)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053401]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053401]\|See cases [RCV000053401]	Chr5:22149..17425613 [GRCh38] Chr5:22149..17425722 [GRCh37] Chr5:75149..17478722 [NCBI36] Chr5:5p15.33-15.1	pathogenic
GRCh38/hg38 5p15.33-15.2(chr5:22149-10044087)x1	copy number loss	See cases [RCV000053416]	Chr5:22149..10044087 [GRCh38] Chr5:22149..10044199 [GRCh37] Chr5:75149..10097199 [NCBI36] Chr5:5p15.33-15.2	pathogenic
GRCh38/hg38 5p15.33-15.1(chr5:22149-15995341)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053418]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053418]\|See cases [RCV000053418]	Chr5:22149..15995341 [GRCh38] Chr5:22149..15995450 [GRCh37] Chr5:75149..16048450 [NCBI36] Chr5:5p15.33-15.1	pathogenic
GRCh38/hg38 5p15.33-14.3(chr5:22419-19280892)x1	copy number loss	See cases [RCV000053419]	Chr5:22419..19280892 [GRCh38] Chr5:22419..19281001 [GRCh37] Chr5:75419..19316758 [NCBI36] Chr5:5p15.33-14.3	pathogenic
GRCh38/hg38 5p15.33-15.1(chr5:49778-16908798)x1	copy number loss	See cases [RCV000053422]	Chr5:49778..16908798 [GRCh38] Chr5:49893..16908907 [GRCh37] Chr5:102893..16961907 [NCBI36] Chr5:5p15.33-15.1	pathogenic
GRCh38/hg38 5p15.33-14.3(chr5:49778-19125522)x1	copy number loss	See cases [RCV000053424]	Chr5:49778..19125522 [GRCh38] Chr5:49893..19125631 [GRCh37] Chr5:102893..19161388 [NCBI36] Chr5:5p15.33-14.3	pathogenic
GRCh38/hg38 5p15.33-14.1(chr5:547757-26541238)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053445]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053445]\|See cases [RCV000053445]	Chr5:547757..26541238 [GRCh38] Chr5:547872..26541347 [GRCh37] Chr5:600872..26577104 [NCBI36] Chr5:5p15.33-14.1	pathogenic
GRCh38/hg38 5p15.33-15.1(chr5:2180761-17602433)x1	copy number loss	See cases [RCV000053446]	Chr5:2180761..17602433 [GRCh38] Chr5:2180875..17602542 [GRCh37] Chr5:2233875..17645646 [NCBI36] Chr5:5p15.33-15.1	pathogenic
NM_001089584.2(C5orf49):c.230A>T (p.His77Leu)	single nucleotide variant	Malignant melanoma [RCV000067011]	Chr5:7835416 [GRCh38] Chr5:7835529 [GRCh37] Chr5:7888529 [NCBI36] Chr5:5p15.31	not provided
NM_001089584.2(C5orf49):c.265-513C>T	single nucleotide variant	Lung cancer [RCV000096190]	Chr5:7832542 [GRCh38] Chr5:7832655 [GRCh37] Chr5:5p15.31	uncertain significance
GRCh38/hg38 5p15.33-13.3(chr5:22149-33418188)x3	copy number gain	See cases [RCV000133788]	Chr5:22149..33418188 [GRCh38] Chr5:22149..33418294 [GRCh37] Chr5:75149..33454051 [NCBI36] Chr5:5p15.33-13.3	pathogenic
GRCh38/hg38 5p15.33-15.2(chr5:22149-12819999)x1	copy number loss	See cases [RCV000133796]	Chr5:22149..12819999 [GRCh38] Chr5:22149..12820111 [GRCh37] Chr5:75149..12873111 [NCBI36] Chr5:5p15.33-15.2	pathogenic
GRCh38/hg38 5p15.33-14.1(chr5:22149-25699605)x1	copy number loss	See cases [RCV000133768]	Chr5:22149..25699605 [GRCh38] Chr5:22149..25699714 [GRCh37] Chr5:75149..25735471 [NCBI36] Chr5:5p15.33-14.1	pathogenic
GRCh38/hg38 5p15.33-14.1(chr5:22149-27788616)x1	copy number loss	See cases [RCV000134873]	Chr5:22149..27788616 [GRCh38] Chr5:22149..27788723 [GRCh37] Chr5:75149..27824480 [NCBI36] Chr5:5p15.33-14.1	pathogenic
GRCh38/hg38 5p15.33-13.3(chr5:49978-30112535)x1	copy number loss	See cases [RCV000135878]	Chr5:49978..30112535 [GRCh38] Chr5:50093..30112642 [GRCh37] Chr5:103093..30148399 [NCBI36] Chr5:5p15.33-13.3	pathogenic
GRCh38/hg38 5p15.33-13.3(chr5:22149-32248010)x1	copy number loss	See cases [RCV000135668]	Chr5:22149..32248010 [GRCh38] Chr5:22149..32248116 [GRCh37] Chr5:75149..32283873 [NCBI36] Chr5:5p15.33-13.3	pathogenic
GRCh38/hg38 5p15.33-11(chr5:49978-46114984)x3	copy number gain	See cases [RCV000135453]	Chr5:49978..46114984 [GRCh38] Chr5:50093..46115086 [GRCh37] Chr5:103093..46150843 [NCBI36] Chr5:5p15.33-11	pathogenic
GRCh38/hg38 5p15.33-15.1(chr5:22149-16584575)x1	copy number loss	See cases [RCV000136556]	Chr5:22149..16584575 [GRCh38] Chr5:22149..16584684 [GRCh37] Chr5:75149..16637684 [NCBI36] Chr5:5p15.33-15.1	pathogenic
GRCh38/hg38 5p15.33-15.31(chr5:1544285-8681441)x3	copy number gain	See cases [RCV000136901]	Chr5:1544285..8681441 [GRCh38] Chr5:1544400..8681553 [GRCh37] Chr5:1597400..8734553 [NCBI36] Chr5:5p15.33-15.31	pathogenic
GRCh38/hg38 5p15.33-14.1(chr5:22149-27485619)x1	copy number loss	See cases [RCV000137072]	Chr5:22149..27485619 [GRCh38] Chr5:22149..27485726 [GRCh37] Chr5:75149..27521483 [NCBI36] Chr5:5p15.33-14.1	pathogenic
GRCh38/hg38 5p15.33-15.1(chr5:22149-15851376)x3	copy number gain	See cases [RCV000136943]	Chr5:22149..15851376 [GRCh38] Chr5:22149..15851485 [GRCh37] Chr5:75149..15904485 [NCBI36] Chr5:5p15.33-15.1	pathogenic
GRCh38/hg38 5p15.31(chr5:7701344-8275266)x3	copy number gain	See cases [RCV000136654]	Chr5:7701344..8275266 [GRCh38] Chr5:7701457..8275379 [GRCh37] Chr5:7754457..8328379 [NCBI36] Chr5:5p15.31	uncertain significance
GRCh38/hg38 5p15.33-14.1(chr5:22149-28075106)x3	copy number gain	See cases [RCV000137682]	Chr5:22149..28075106 [GRCh38] Chr5:22149..28075213 [GRCh37] Chr5:75149..28110970 [NCBI36] Chr5:5p15.33-14.1	pathogenic\|uncertain significance
GRCh38/hg38 5p15.33-14.1(chr5:22149-28429241)x1	copy number loss	See cases [RCV000137165]	Chr5:22149..28429241 [GRCh38] Chr5:22149..28429348 [GRCh37] Chr5:75149..28465105 [NCBI36] Chr5:5p15.33-14.1	pathogenic
GRCh38/hg38 5p15.33-14.3(chr5:22149-22775295)x1	copy number loss	See cases [RCV000138116]	Chr5:22149..22775295 [GRCh38] Chr5:22149..22775404 [GRCh37] Chr5:75149..22811161 [NCBI36] Chr5:5p15.33-14.3	pathogenic
GRCh38/hg38 5p15.33-14.1(chr5:22149-27187950)x1	copy number loss	See cases [RCV000138099]	Chr5:22149..27187950 [GRCh38] Chr5:22149..27188057 [GRCh37] Chr5:75149..27223814 [NCBI36] Chr5:5p15.33-14.1	pathogenic
GRCh38/hg38 5p15.33-15.2(chr5:22149-11429258)x1	copy number loss	See cases [RCV000137884]	Chr5:22149..11429258 [GRCh38] Chr5:22149..11429370 [GRCh37] Chr5:75149..11482370 [NCBI36] Chr5:5p15.33-15.2	pathogenic
GRCh38/hg38 5p15.33-15.2(chr5:22149-11530391)x1	copy number loss	See cases [RCV000137915]	Chr5:22149..11530391 [GRCh38] Chr5:22149..11530503 [GRCh37] Chr5:75149..11583503 [NCBI36] Chr5:5p15.33-15.2	pathogenic
GRCh38/hg38 5p15.33-14.2(chr5:22149-23607053)x3	copy number gain	See cases [RCV000137806]	Chr5:22149..23607053 [GRCh38] Chr5:22149..23607162 [GRCh37] Chr5:75149..23642919 [NCBI36] Chr5:5p15.33-14.2	pathogenic
GRCh38/hg38 5p15.33-13.2(chr5:22149-35831538)x1	copy number loss	See cases [RCV000138888]	Chr5:22149..35831538 [GRCh38] Chr5:22149..35831640 [GRCh37] Chr5:75149..35867397 [NCBI36] Chr5:5p15.33-13.2	pathogenic
GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3	copy number gain	See cases [RCV000138780]	Chr5:22149..74412725 [GRCh38] Chr5:22149..73708550 [GRCh37] Chr5:75149..73744306 [NCBI36] Chr5:5p15.33-q13.3	pathogenic
GRCh38/hg38 5p15.33-14.3(chr5:22149-21217120)x1	copy number loss	See cases [RCV000138553]	Chr5:22149..21217120 [GRCh38] Chr5:22149..21217229 [GRCh37] Chr5:75149..21252986 [NCBI36] Chr5:5p15.33-14.3	pathogenic
GRCh38/hg38 5p15.33-15.1(chr5:22149-17788697)x1	copy number loss	See cases [RCV000138288]	Chr5:22149..17788697 [GRCh38] Chr5:22149..17788806 [GRCh37] Chr5:75149..17824563 [NCBI36] Chr5:5p15.33-15.1	likely benign
GRCh38/hg38 5p15.31(chr5:7634264-8158777)x3	copy number gain	See cases [RCV000139431]	Chr5:7634264..8158777 [GRCh38] Chr5:7634377..8158890 [GRCh37] Chr5:7687377..8211890 [NCBI36] Chr5:5p15.31	uncertain significance
GRCh38/hg38 5p15.31-15.2(chr5:7670933-13623997)x1	copy number loss	See cases [RCV000139904]	Chr5:7670933..13623997 [GRCh38] Chr5:7671046..13624106 [GRCh37] Chr5:7724046..13677106 [NCBI36] Chr5:5p15.31-15.2	pathogenic
GRCh38/hg38 5p15.33-14.1(chr5:22149-28589192)x1	copy number loss	See cases [RCV000141225]	Chr5:22149..28589192 [GRCh38] Chr5:22149..28589299 [GRCh37] Chr5:75149..28625056 [NCBI36] Chr5:5p15.33-14.1	pathogenic
GRCh38/hg38 5p15.32-13.2(chr5:4849498-36818719)x3	copy number gain	See cases [RCV000141246]	Chr5:4849498..36818719 [GRCh38] Chr5:4849611..36818821 [GRCh37] Chr5:4902611..36854578 [NCBI36] Chr5:5p15.32-13.2	pathogenic
GRCh38/hg38 5p15.33-15.1(chr5:22149-16930016)x1	copy number loss	See cases [RCV000140964]	Chr5:22149..16930016 [GRCh38] Chr5:22149..16930125 [GRCh37] Chr5:75149..16983125 [NCBI36] Chr5:5p15.33-15.1	pathogenic
GRCh38/hg38 5p15.33-15.31(chr5:113461-8875933)x1	copy number loss	See cases [RCV000141930]	Chr5:113461..8875933 [GRCh38] Chr5:113576..8876045 [GRCh37] Chr5:166576..8929045 [NCBI36] Chr5:5p15.33-15.31	pathogenic
GRCh38/hg38 5p15.33-13.2(chr5:113461-33998289)x1	copy number loss	See cases [RCV000141844]	Chr5:113461..33998289 [GRCh38] Chr5:113576..33998394 [GRCh37] Chr5:166576..34034151 [NCBI36] Chr5:5p15.33-13.2	pathogenic
GRCh38/hg38 5p15.32-14.3(chr5:4932707-18465361)x1	copy number loss	See cases [RCV000141795]	Chr5:4932707..18465361 [GRCh38] Chr5:4932820..18465470 [GRCh37] Chr5:4985820..18501227 [NCBI36] Chr5:5p15.32-14.3	pathogenic
GRCh38/hg38 5p15.33-15.2(chr5:113461-14684362)x1	copy number loss	See cases [RCV000142183]	Chr5:113461..14684362 [GRCh38] Chr5:113576..14684471 [GRCh37] Chr5:166576..14737471 [NCBI36] Chr5:5p15.33-15.2	pathogenic
GRCh38/hg38 5p15.33-14.3(chr5:22149-21726360)x1	copy number loss	See cases [RCV000143022]	Chr5:22149..21726360 [GRCh38] Chr5:22149..21726469 [GRCh37] Chr5:75149..21762226 [NCBI36] Chr5:5p15.33-14.3	pathogenic
GRCh38/hg38 5p15.33-14.1(chr5:22149-27611163)x1	copy number loss	See cases [RCV000142934]	Chr5:22149..27611163 [GRCh38] Chr5:22149..27611270 [GRCh37] Chr5:75149..27647027 [NCBI36] Chr5:5p15.33-14.1	pathogenic
GRCh38/hg38 5p15.33-14.1(chr5:22149-26593891)x1	copy number loss	See cases [RCV000142645]	Chr5:22149..26593891 [GRCh38] Chr5:22149..26594000 [GRCh37] Chr5:75149..26629757 [NCBI36] Chr5:5p15.33-14.1	pathogenic
GRCh38/hg38 5p15.33-15.1(chr5:49978-15678451)x1	copy number loss	See cases [RCV000148250]	Chr5:49978..15678451 [GRCh38] Chr5:50093..15678560 [GRCh37] Chr5:103093..15731560 [NCBI36] Chr5:5p15.33-15.1	pathogenic
GRCh37/hg19 5p15.33-13.3(chr5:25328-30672798)x1	copy number loss	See cases [RCV000515550]	Chr5:25328..30672798 [GRCh37] Chr5:5p15.33-13.3	pathogenic
GRCh37/hg19 5p15.33-15.1(chr5:79146-15509107)x1	copy number loss	See cases [RCV000240157]	Chr5:79146..15509107 [GRCh37] Chr5:5p15.33-15.1	pathogenic
t(5;16)(p15.31;q23.1)	translocation	not provided [RCV000203391]	Chr5:1..8180513 [GRCh37] Chr16:76935310..90354753 [GRCh37] Chr5:5p15.33-15.31 Chr16:16q23.1-24.3	likely pathogenic
GRCh37/hg19 5p15.33-13.3(chr5:113576-33493797)x1	copy number loss	See cases [RCV000449075]	Chr5:113576..33493797 [GRCh37] Chr5:5p15.33-13.3	pathogenic
GRCh37/hg19 5p15.33-14.3(chr5:25328-19661628)x3	copy number gain	not provided [RCV000234904]	Chr5:25328..19661628 [GRCh37] Chr5:5p15.33-14.3	pathogenic
GRCh37/hg19 5p15.33-13.2(chr5:22149-34041255)x3	copy number gain	See cases [RCV000240016]	Chr5:22149..34041255 [GRCh37] Chr5:5p15.33-13.2	pathogenic
GRCh37/hg19 5p15.33-15.2(chr5:22149-13362684)x1	copy number loss	See cases [RCV000240389]	Chr5:22149..13362684 [GRCh37] Chr5:5p15.33-15.2	pathogenic
GRCh37/hg19 5p15.33-15.2(chr5:113576-12601027)	copy number loss	5p partial monosomy syndrome [RCV002280774]	Chr5:113576..12601027 [GRCh37] Chr5:5p15.33-15.2	pathogenic
GRCh37/hg19 5p15.33-15.1(chr5:113576-16854340)x1	copy number loss	See cases [RCV000449097]	Chr5:113576..16854340 [GRCh37] Chr5:5p15.33-15.1	pathogenic
GRCh37/hg19 5p15.33-13.3(chr5:3159498-30585683)x3	copy number gain	See cases [RCV000449100]	Chr5:3159498..30585683 [GRCh37] Chr5:5p15.33-13.3	pathogenic
GRCh37/hg19 5p15.33-13.3(chr5:113576-30279389)x3	copy number gain	See cases [RCV000446077]	Chr5:113576..30279389 [GRCh37] Chr5:5p15.33-13.3	pathogenic
GRCh37/hg19 5p15.33-14.1(chr5:22149-24835567)x1	copy number loss	See cases [RCV000447672]	Chr5:22149..24835567 [GRCh37] Chr5:5p15.33-14.1	pathogenic
GRCh37/hg19 5p15.33-13.2(chr5:113576-34372083)x1	copy number loss	See cases [RCV000446974]	Chr5:113576..34372083 [GRCh37] Chr5:5p15.33-13.2	pathogenic
GRCh37/hg19 5p15.33-15.2(chr5:22149-9958240)x1	copy number loss	See cases [RCV000447483]	Chr5:22149..9958240 [GRCh37] Chr5:5p15.33-15.2	pathogenic
GRCh37/hg19 5p15.33-15.1(chr5:113576-17334977)x1	copy number loss	See cases [RCV000446645]	Chr5:113576..17334977 [GRCh37] Chr5:5p15.33-15.1	pathogenic
GRCh37/hg19 5p15.33-14.1(chr5:113576-27338567)x1	copy number loss	See cases [RCV000446054]	Chr5:113576..27338567 [GRCh37] Chr5:5p15.33-14.1	pathogenic
GRCh37/hg19 5p15.33-15.2(chr5:113576-14238330)x3	copy number gain	See cases [RCV000447632]	Chr5:113576..14238330 [GRCh37] Chr5:5p15.33-15.2	pathogenic
GRCh37/hg19 5p15.33-14.1(chr5:113576-25948451)x1	copy number loss	See cases [RCV000447462]	Chr5:113576..25948451 [GRCh37] Chr5:5p15.33-14.1	pathogenic
GRCh37/hg19 5p15.31-13.3(chr5:7806183-31019599)x1	copy number loss	See cases [RCV000445859]	Chr5:7806183..31019599 [GRCh37] Chr5:5p15.31-13.3	pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	copy number gain	See cases [RCV000510723]	Chr5:113577..180719789 [GRCh37] Chr5:5p15.33-q35.3	pathogenic
GRCh37/hg19 5p15.33-13.2(chr5:22149-34041196)x1	copy number loss	See cases [RCV000448019]	Chr5:22149..34041196 [GRCh37] Chr5:5p15.33-13.2	pathogenic
GRCh37/hg19 5p15.33-14.3(chr5:113576-21786246)x1	copy number loss	See cases [RCV000448521]	Chr5:113576..21786246 [GRCh37] Chr5:5p15.33-14.3	pathogenic
GRCh37/hg19 5p15.31(chr5:7198626-8305678)	copy number gain	Abnormal esophagus morphology [RCV000416714]	Chr5:7198626..8305678 [GRCh37] Chr5:5p15.31	likely benign
GRCh37/hg19 5p15.33-14.3(chr5:113576-23147737)x1	copy number loss	See cases [RCV000448408]	Chr5:113576..23147737 [GRCh37] Chr5:5p15.33-14.3	pathogenic
GRCh37/hg19 5p15.33-14.3(chr5:79146-22152284)x1	copy number loss	See cases [RCV000447737]	Chr5:79146..22152284 [GRCh37] Chr5:5p15.33-14.3	pathogenic
GRCh37/hg19 5p15.33-15.31(chr5:149372-7883578)x3	copy number gain	See cases [RCV000447969]	Chr5:149372..7883578 [GRCh37] Chr5:5p15.33-15.31	pathogenic
GRCh37/hg19 5p15.33-14.1(chr5:113576-25091472)x1	copy number loss	See cases [RCV000512066]	Chr5:113576..25091472 [GRCh37] Chr5:5p15.33-14.1	pathogenic
GRCh37/hg19 5p15.33-14.1(chr5:113576-26234903)x1	copy number loss	See cases [RCV000510193]	Chr5:113576..26234903 [GRCh37] Chr5:5p15.33-14.1	pathogenic
GRCh37/hg19 5p15.33-15.2(chr5:113576-10163809)x1	copy number loss	See cases [RCV000511494]	Chr5:113576..10163809 [GRCh37] Chr5:5p15.33-15.2	pathogenic
GRCh37/hg19 5p15.33-15.1(chr5:113576-15291661)x1	copy number loss	See cases [RCV000511513]	Chr5:113576..15291661 [GRCh37] Chr5:5p15.33-15.1	pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	copy number gain	See cases [RCV000512039]	Chr5:113577..180719789 [GRCh37] Chr5:5p15.33-q35.3	pathogenic
GRCh37/hg19 5p15.33-15.2(chr5:113576-10729838)x1	copy number loss	See cases [RCV000510912]	Chr5:113576..10729838 [GRCh37] Chr5:5p15.33-15.2	pathogenic
GRCh37/hg19 5p15.33-14.1(chr5:113576-26948599)x1	copy number loss	See cases [RCV000510921]	Chr5:113576..26948599 [GRCh37] Chr5:5p15.33-14.1	pathogenic
GRCh37/hg19 5p15.33-14.3(chr5:113576-23047959)x1	copy number loss	See cases [RCV000510786]	Chr5:113576..23047959 [GRCh37] Chr5:5p15.33-14.3	pathogenic
GRCh37/hg19 5p15.33-14.1(chr5:140474-26906925)	copy number loss	5p partial monosomy syndrome [RCV000767709]	Chr5:140474..26906925 [GRCh37] Chr5:5p15.33-14.1	pathogenic
GRCh37/hg19 5p15.33-14.3(chr5:113576-20240392)x3	copy number gain	See cases [RCV000512567]	Chr5:113576..20240392 [GRCh37] Chr5:5p15.33-14.3	pathogenic
GRCh37/hg19 5p15.33-15.31(chr5:113576-7946262)x1	copy number loss	not provided [RCV000682513]	Chr5:113576..7946262 [GRCh37] Chr5:5p15.33-15.31	pathogenic
GRCh37/hg19 5p15.33-15.1(chr5:113576-15822225)x1	copy number loss	not provided [RCV000682514]	Chr5:113576..15822225 [GRCh37] Chr5:5p15.33-15.1	pathogenic
GRCh37/hg19 5p15.33-14.3(chr5:113576-19167699)x1	copy number loss	not provided [RCV000682515]	Chr5:113576..19167699 [GRCh37] Chr5:5p15.33-14.3	pathogenic
GRCh37/hg19 5p15.33-13.2(chr5:113576-35739404)x3	copy number gain	not provided [RCV000682516]	Chr5:113576..35739404 [GRCh37] Chr5:5p15.33-13.2	pathogenic
GRCh37/hg19 5p15.32-14.3(chr5:5830053-19490899)x1	copy number loss	not provided [RCV000682520]	Chr5:5830053..19490899 [GRCh37] Chr5:5p15.32-14.3	pathogenic
GRCh37/hg19 5p15.32-15.2(chr5:5884444-14122539)x3	copy number gain	not provided [RCV000682521]	Chr5:5884444..14122539 [GRCh37] Chr5:5p15.32-15.2	pathogenic
GRCh37/hg19 5p15.31(chr5:7831677-9214028)x3	copy number gain	not provided [RCV000682523]	Chr5:7831677..9214028 [GRCh37] Chr5:5p15.31	uncertain significance
GRCh37/hg19 5p15.33-q35.3(chr5:25328-180693344)x3	copy number gain	not provided [RCV000744323]	Chr5:25328..180693344 [GRCh37] Chr5:5p15.33-q35.3	pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:13648-180905029)x3	copy number gain	not provided [RCV000744317]	Chr5:13648..180905029 [GRCh37] Chr5:5p15.33-q35.3	pathogenic
GRCh37/hg19 5p15.33-14.3(chr5:25328-18662625)x1	copy number loss	not provided [RCV000744320]	Chr5:25328..18662625 [GRCh37] Chr5:5p15.33-14.3	pathogenic
GRCh37/hg19 5p15.33-14.3(chr5:25328-18698028)x3	copy number gain	not provided [RCV000744321]	Chr5:25328..18698028 [GRCh37] Chr5:5p15.33-14.3	pathogenic
GRCh37/hg19 5p15.33-13.3(chr5:25328-31343671)x1	copy number loss	not provided [RCV000744322]	Chr5:25328..31343671 [GRCh37] Chr5:5p15.33-13.3	pathogenic
GRCh37/hg19 5p15.33-15.31(chr5:140474-9792158)	copy number loss	5p partial monosomy syndrome [RCV000767710]	Chr5:140474..9792158 [GRCh37] Chr5:5p15.33-15.31	pathogenic
GRCh37/hg19 5p15.33-13.3(chr5:113576-30712376)x1	copy number loss	See cases [RCV002285039]	Chr5:113576..30712376 [GRCh37] Chr5:5p15.33-13.3	pathogenic
GRCh37/hg19 5p15.33-15.2(chr5:1322680-10762544)x1	copy number loss	not provided [RCV001005649]	Chr5:1322680..10762544 [GRCh37] Chr5:5p15.33-15.2	pathogenic
GRCh37/hg19 5p15.31(chr5:7607935-9584194)x3	copy number gain	not provided [RCV000846801]	Chr5:7607935..9584194 [GRCh37] Chr5:5p15.31	uncertain significance
GRCh37/hg19 5p15.31(chr5:7263294-8372692)x3	copy number gain	not provided [RCV001005652]	Chr5:7263294..8372692 [GRCh37] Chr5:5p15.31	uncertain significance
GRCh37/hg19 5p15.33-15.2(chr5:113576-11767720)x1	copy number loss	not provided [RCV001005644]	Chr5:113576..11767720 [GRCh37] Chr5:5p15.33-15.2	pathogenic
GRCh37/hg19 5p15.33-15.2(chr5:113576-14738180)x1	copy number loss	not provided [RCV001005643]	Chr5:113576..14738180 [GRCh37] Chr5:5p15.33-15.2	pathogenic
GRCh37/hg19 5p15.33-14.3(chr5:71904-22078969)	copy number loss	5p partial monosomy syndrome [RCV001195139]	Chr5:71904..22078969 [GRCh37] Chr5:5p15.33-14.3	pathogenic
GRCh37/hg19 5p15.33-13.3(chr5:1-32091038)x1	copy number loss	not provided [RCV002472712]	Chr5:1..32091038 [GRCh37] Chr5:5p15.33-13.3	pathogenic
GRCh37/hg19 5p15.33-14.2(chr5:113576-23364376)x1	copy number loss	not provided [RCV001005642]	Chr5:113576..23364376 [GRCh37] Chr5:5p15.33-14.2	pathogenic
GRCh37/hg19 5p15.31(chr5:7619352-8166508)x3	copy number gain	not provided [RCV001258843]	Chr5:7619352..8166508 [GRCh37] Chr5:5p15.31	likely benign
GRCh37/hg19 5p15.33-13.3(chr5:22149-29048823)x1	copy number loss	See cases [RCV001310287]	Chr5:22149..29048823 [GRCh37] Chr5:5p15.33-13.3	pathogenic
GRCh37/hg19 5p15.33-15.1(chr5:113577-16952167)x1	copy number loss	not provided [RCV001827855]	Chr5:113577..16952167 [GRCh37] Chr5:5p15.33-15.1	pathogenic
GRCh37/hg19 5p15.33-13.3(chr5:113576-29310520)	copy number gain	5p partial monosomy syndrome [RCV002280773]	Chr5:113576..29310520 [GRCh37] Chr5:5p15.33-13.3	pathogenic
GRCh37/hg19 5p15.33-15.31(chr5:113576-8007018)x1	copy number loss	See cases [RCV002286352]	Chr5:113576..8007018 [GRCh37] Chr5:5p15.33-15.31	pathogenic
GRCh37/hg19 5p15.33-15.1(chr5:113577-17654787)x1	copy number loss	not provided [RCV002473919]	Chr5:113577..17654787 [GRCh37] Chr5:5p15.33-15.1	pathogenic
GRCh37/hg19 5p15.33-13.3(chr5:113577-31448527)x1	copy number loss	not provided [RCV002475666]	Chr5:113577..31448527 [GRCh37] Chr5:5p15.33-13.3	pathogenic
GRCh37/hg19 5p15.33-14.1(chr5:113577-26164852)x1	copy number loss	not provided [RCV002475573]	Chr5:113577..26164852 [GRCh37] Chr5:5p15.33-14.1	pathogenic
GRCh38/hg38 5p15.33-15.2(chr5:9999-14320000)x1	copy number loss	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome [RCV003327718]	Chr5:9999..14320000 [GRCh38] Chr5:5p15.33-15.2	pathogenic
GRCh37/hg19 5p15.33-13.2(chr5:113577-35613146)x1	copy number loss	not provided [RCV003485447]	Chr5:113577..35613146 [GRCh37] Chr5:5p15.33-13.2	pathogenic
GRCh37/hg19 5p15.33-15.2(chr5:113577-11095056)x1	copy number loss	not provided [RCV003485448]	Chr5:113577..11095056 [GRCh37] Chr5:5p15.33-15.2	pathogenic
GRCh37/hg19 5p15.33-13.3(chr5:113577-30529044)x1	copy number loss	not provided [RCV003485449]	Chr5:113577..30529044 [GRCh37] Chr5:5p15.33-13.3	pathogenic
GRCh37/hg19 5p15.33-14.3(chr5:862398-18927500)x1	copy number loss	not provided [RCV003485453]	Chr5:862398..18927500 [GRCh37] Chr5:5p15.33-14.3	pathogenic
GRCh37/hg19 5p15.33-14.3(chr5:113577-21529653)x1	copy number loss	not provided [RCV003485450]	Chr5:113577..21529653 [GRCh37] Chr5:5p15.33-14.3	pathogenic
GRCh37/hg19 5p15.33-14.1(chr5:113577-27800913)x3	copy number gain	not provided [RCV003484599]	Chr5:113577..27800913 [GRCh37] Chr5:5p15.33-14.1	pathogenic
GRCh37/hg19 5p15.33-14.1(chr5:113576-28300709)x1	copy number loss	not specified [RCV003986544]	Chr5:113576..28300709 [GRCh37] Chr5:5p15.33-14.1	pathogenic
GRCh37/hg19 5p15.33-14.1(chr5:113576-26534253)x1	copy number loss	not specified [RCV003986560]	Chr5:113576..26534253 [GRCh37] Chr5:5p15.33-14.1	pathogenic
GRCh37/hg19 5p15.33-14.3(chr5:113576-19388145)x1	copy number loss	not specified [RCV003986593]	Chr5:113576..19388145 [GRCh37] Chr5:5p15.33-14.3	pathogenic
GRCh37/hg19 5p15.33-15.1(chr5:3272715-17317051)x1	copy number loss	not specified [RCV003986598]	Chr5:3272715..17317051 [GRCh37] Chr5:5p15.33-15.1	pathogenic
GRCh37/hg19 5p15.33-15.2(chr5:113576-10835556)x1	copy number loss	not specified [RCV003986599]	Chr5:113576..10835556 [GRCh37] Chr5:5p15.33-15.2	pathogenic
GRCh37/hg19 5p15.33-15.1(chr5:113576-17511896)x1	copy number loss	not specified [RCV003986589]	Chr5:113576..17511896 [GRCh37] Chr5:5p15.33-15.1	pathogenic
GRCh37/hg19 5p15.32-13.3(chr5:5259461-29748394)x1	copy number loss	not specified [RCV003986556]	Chr5:5259461..29748394 [GRCh37] Chr5:5p15.32-13.3	pathogenic

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	832
Count of miRNA genes:	479
Interacting mature miRNAs:	522
Transcripts:	ENST00000399810, ENST00000509627
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

RH99110

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	5	7,831,754 - 7,831,914	UniSTS	GRCh37
Build 36	5	7,884,754 - 7,884,914	RGD	NCBI36
Celera	5	7,872,822 - 7,872,982	RGD
Cytogenetic Map	5	p15.31	UniSTS
HuRef	5	7,813,516 - 7,813,676	UniSTS
GeneMap99-GB4 RH Map	5	28.06	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

200

791

450

153

Low

239

1004

362

305

1183

2303

315

829

1078

248

531

Below cutoff

1911

1988

482

225

701

126

2756

1651

583

136

312

104

931

1922

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_001089584	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011513963	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054351610	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AC010346	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC053548	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC062569	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC104204	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC104205	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC115361	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471102	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068273	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

RefSeq Acc Id:

ENST00000399810 ⟹ ENSP00000382708

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	5	7,830,378 - 7,851,133 (-)	Ensembl

RefSeq Acc Id:

ENST00000509627 ⟹ ENSP00000426019

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	5	7,831,398 - 7,851,151 (-)	Ensembl

RefSeq Acc Id:

NM_001089584 ⟹ NP_001083053

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	5	7,830,378 - 7,851,133 (-)	NCBI
GRCh37	5	7,830,491 - 7,851,603 (-)	NCBI
Build 36	5	7,884,511 - 7,904,264 (-)	NCBI Archive
Celera	5	7,872,579 - 7,892,308 (-)	RGD
HuRef	5	7,812,253 - 7,833,342 (-)	NCBI
CHM1_1	5	7,830,570 - 7,851,693 (-)	NCBI
T2T-CHM13v2.0	5	7,769,514 - 7,790,256 (-)	NCBI

Sequence:

show sequence

AGACGCGGGCTAGACGCTGGCGCTGAGCAACCTGAGGCCTGCAGACTCCGACTGGGCCCCTGGG
CGGGCGGGACGGACCGCGGCCAAGGCGGGGGCGCTGGACGGTGGCGGCATGGAGGACGACGAGG
AGGAGACCACCGCGTCCACGCTGCGGGGCAAGCCCAGGCCGCCGCCCGTCTCGGCGCAGTCCGC
CTTCAGCTACATCCCGCCGCGGCGCCTGGACCCCAAAGAGCACAGCTACTACTACCGCCCGGCG
CGGACAGGAATTATTTCCCTCTATGATTGTATTTTTAAGAGGCGCCTAGATTATGATCAGAAGT
TGCACCGAGATGACAGAGAACATGCAAAAAGCCTGGGACTTCATGTTAACGAAGAGGAACAGGA
GAGGCCGGTTGGAGTGCTGACGTCTTCTGTCTATGGGAAGCGCATCAATCAGCCCATTGAGCCC
CTAAACCGGGACTTTGGCCGTGCCAACCATGTGCAGGCTGACTTCTACAGGAAGAACGACATCC
CCAGCCTCAAGGAACCCGGCTTTGGGCACATTGCTCCATCCTGAAGCATCCCCGTGGCCCACAG
GGCATGTCCGATACCCTGTGGCCTGGCAAGTTTGCACAGCGAGAAGGTGGCATCTGGAGCCTCC
TTTCCCCTTCTCATGACGCCTAGGAGCTTGGCTATGCCTGTGTTGCATCTCTACAGTGGGACAC
ATGAACACGTTAGCAGCCCCCCTCAGGTTGCTGGGTTAGGAGCCTGACCAACAACACCTTTAGT
ACATGTGAAGAGTCTCTGATGTGATGATTTTCAGCTGGAATTATTTTTGATCAAATGAATCTGG
AGACCGATTCATTGTGAGCACCTGAATAAAATGAAAACTTTGTTTCCCCTTGGTAACTGTTGGG
TTGGTTTCTGTTCACTGGCTCTCTACATTTGCCAGGATTCTTTGGGGAGGCAGTCACAGGAGTG
AGGTGCAGTTGCTTTTCCCACGAGTTAGGGGAACTCCTGCTGCCTGAACACAAACAACCCTGAC
ATGTTCCCTTCTCCAAGAGGAGATGTGATGACAATTGTCTTTTGGCACAATTGAACTCTAGAAA
CTCCATTTTTGTTTTTCCAGAGGTCTGAATCCCAAATAACAGAATTTTGTGCAGTAGGGACCAG
GAGCCCTAGTAAGGATGGGTGGCCCTGGTGGCCAGCAATGCTCACTATTACTGCTCAGAGAGAG
GGGGCCAGTCATGGGAAGAGGCTAGATTTCGGTGTTCAACAAACTTGGGTAAAATTCTGGTTGC
TGCATTTTCTAGATTTGTGTTCTAGGGCAAGTCATATCATCTACATGAGCAGACATTTCCTCAT
ATTTAAAGTGGAATTTCCAAACCTAGAGGAGTTCATGCGGGAGGCAATGAGCTGCTGGAGCACA
GGCATAACACAGGTACCCAGTGTGTGCCCCACCCAGTGCCCCGTCATCACAGCAATGACTTGAC
TTTAAACAGTCTTCTTTTTGGAAGCAGTCGCTTGTAACCTAAGTTGGAAATACTTACTTTGGAG
ATAATTTGAAACTTACCCAAGTATTAAAGTATCATCAGCTACATTTTTAATGAATGGATCCCTT
GGAAGAAATCATCTCTCATCTACCATGATTAAATTTCCCACAGTTTAGCAGTGAATGGGCAGGT
GGCCTAATTAATTTCAATACTGATCGCTCCATCACTGGTTTTATTGTTTTGAATATGGAAAAAG
GATTCTCTAAAAATAAATGACACTGAATTCCGGCAATTTCAAGGCTGAGTGACTCCTAAGTATT
TCTTTATTTTTTTGAAAACAGTTTTTCAGTGTAGGTGTCTTTTATTTATTTCAAACAAATGGCA
GTAGTTTATTTCGAATGCCTTTGGGTGCATTATACCATATTTATAGTAACATAATAGAAAATAT
ATAAAGTTTGGGTTATAGAAATATTTATAAATTATTCATTATTCAGACTTGATTTCAACAAAGA
CAAGGCATCTGTAAGTGACTGTAATAAATCAAAGTCAAACTAAA

hide sequence

RefSeq Acc Id:

XM_011513963 ⟹ XP_011512265

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	5	7,830,378 - 7,835,854 (-)	NCBI

Sequence:

show sequence

GAATGGACTAGGACACATTTTTATTTTAAAGTTTGAGCTCTAGCAATGGAGTCAGACAGCAAGA
CAGCTTGGGGAGCCACCTCTGTCAACAAGGGAGGAGAAAGTTGAGAAGTGCCATGAAAATGTCC
CTGCTTCATACTGGGCCTCTCAGCAAACTTCTCTTGCTGACAGGAATTATTTCCCTCTATGATT
GTATTTTTAAGAGGCGCCTAGATTATGATCAGAAGTTGCACCGAGATGACAGAGAACATGCAAA
AAGCCTGGGACTTCATGTTAACGAAGAGGAACAGGAGAGGCCGGTTGGAGTGCTGACGTCTTCT
GTCTATGGGAAGCGCATCAATCAGCCCATTGAGCCCCTAAACCGGGACTTTGGCCGTGCCAACC
ATGTGCAGGCTGACTTCTACAGGAAGAACGACATCCCCAGCCTCAAGGAACCCGGCTTTGGGCA
CATTGCTCCATCCTGAAGCATCCCCGTGGCCCACAGGGCATGTCCGATACCCTGTGGCCTGGCA
AGTTTGCACAGCGAGAAGGTGGCATCTGGAGCCTCCTTTCCCCTTCTCATGACGCCTAGGAGCT
TGGCTATGCCTGTGTTGCATCTCTACAGTGGGACACATGAACACGTTAGCAGCCCCCCTCAGGT
TGCTGGGTTAGGAGCCTGACCAACAACACCTTTAGTACATGTGAAGAGTCTCTGATGTGATGAT
TTTCAGCTGGAATTATTTTTGATCAAATGAATCTGGAGACCGATTCATTGTGAGCACCTGAATA
AAATGAAAACTTTGTTTCCCCTTGGTAACTGTTGGGTTGGTTTCTGTTCACTGGCTCTCTACAT
TTGCCAGGATTCTTTGGGGAGGCAGTCACAGGAGTGAGGTGCAGTTGCTTTTCCCACGAGTTAG
GGGAACTCCTGCTGCCTGAACACAAACAACCCTGACATGTTCCCTTCTCCAAGAGGAGATGTGA
TGACAATTGTCTTTTGGCACAATTGAACTCTAGAAACTCCATTTTTGTTTTTCCAGAGGTCTGA
ATCCCAAATAACAGAATTTTGTGCAGTAGGGACCAGGAGCCCTAGTAAGGATGGGTGGCCCTGG
TGGCCAGCAATGCTCACTATTACTGCTCAGAGAGAGGGGGCCAGTCATGGGAAGAGGCTAGATT
TCGGTGTTCAACAAACTTGGGTAAAATTCTGGTTGCTGCATTTTCTAGATTTGTGTTCTAGGGC
AAGTCATATCATCTACATGAGCAGACATTTCCTCATATTTAAAGTGGAATTTCCAAACCTAGAG
GAGTTCATGCGGGAGGCAATGAGCTGCTGGAGCACAGGCATAACACAGGTACCCAGTGTGTGCC
CCACCCAGTGCCCCGTCATCACAGCAATGACTTGACTTTAAACAGTCTTCTTTTTGGAAGCAGT
CGCTTGTAACCTAAGTTGGAAATACTTACTTTGGAGATAATTTGAAACTTACCCAAGTATTAAA
GTATCATCAGCTACATTTTTAATGAATGGATCCCTTGGAAGAAATCATCTCTCATCTACCATGA
TTAAATTTCCCACAGTTTAGCAGTGAATGGGCAGGTGGCCTAATTAATTTCAATACTGATCGCT
CCATCACTGGTTTTATTGTTTTGAATATGGAAAAAGGATTCTCTAAAAATAAATGACACTGAAT
TCCGGCAATT

hide sequence

RefSeq Acc Id:

XM_054351610 ⟹ XP_054207585

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	5	7,769,514 - 7,774,980 (-)	NCBI

Protein Sequences


Protein RefSeqs	NP_001083053	(Get FASTA)	NCBI Sequence Viewer
	XP_011512265	(Get FASTA)	NCBI Sequence Viewer
	XP_054207585	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	A4QMS7	(Get FASTA)	NCBI Sequence Viewer
	AAI04206	(Get FASTA)	NCBI Sequence Viewer
	AAI15362	(Get FASTA)	NCBI Sequence Viewer
	EAX08096	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000382708
	ENSP00000382708.2
	ENSP00000426019.1

RefSeq Acc Id:	NP_001083053 ⟸ NM_001089584
- UniProtKB:	A4QMS7 (UniProtKB/Swiss-Prot), D6RHK3 (UniProtKB/TrEMBL)
- Sequence:	show sequence MEDDEEETTASTLRGKPRPPPVSAQSAFSYIPPRRLDPKEHSYYYRPARTGIISLYDCIFKRRL DYDQKLHRDDREHAKSLGLHVNEEEQERPVGVLTSSVYGKRINQPIEPLNRDFGRANHVQADFY RKNDIPSLKEPGFGHIAPS hide sequence

RefSeq Acc Id:	XP_011512265 ⟸ XM_011513963
- Peptide Label:	isoform X1
- Sequence:	show sequence MKMSLLHTGPLSKLLLLTGIISLYDCIFKRRLDYDQKLHRDDREHAKSLGLHVNEEEQERPVGV LTSSVYGKRINQPIEPLNRDFGRANHVQADFYRKNDIPSLKEPGFGHIAPS hide sequence

RefSeq Acc Id:

ENSP00000382708 ⟸ ENST00000399810

RefSeq Acc Id:

ENSP00000426019 ⟸ ENST00000509627

RefSeq Acc Id:	XP_054207585 ⟸ XM_054351610
- Peptide Label:	isoform X1

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-A4QMS7-F1-model_v2	AlphaFold	A4QMS7	1-147	view protein structure

Promoters

RGD ID:

6869228

Promoter ID:

EPDNEW_H7779

Type:

initiation region

Name:

C5orf49_1

Description:

chromosome 5 open reading frame 49

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	5	7,851,122 - 7,851,182	EPDNEW

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:27028	AgrOrtholog
COSMIC	CFAP90	COSMIC
Ensembl Genes	ENSG00000215217	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript	ENST00000399810	ENTREZGENE
	ENST00000399810.7	UniProtKB/Swiss-Prot
	ENST00000509627.1	UniProtKB/TrEMBL
GTEx	ENSG00000215217	GTEx
HGNC ID	HGNC:27028	ENTREZGENE
Human Proteome Map	CFAP90	Human Proteome Map
InterPro	DUF4541	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	hsa:134121	UniProtKB/Swiss-Prot
NCBI Gene	134121	ENTREZGENE
PANTHER	LOC361192	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	PTHR34444	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam	DUF4541	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA162380347	PharmGKB
UniProt	A4QMS7	ENTREZGENE, UniProtKB/Swiss-Prot
	D6RHK3	ENTREZGENE, UniProtKB/TrEMBL

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2022-10-03	CFAP90	cilia and flagella associated protein 90	C5orf49	chromosome 5 open reading frame 49	Symbol and/or name change	19259463	PROVISIONAL

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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