ROPN1L (rhophilin associated tail protein 1 like)

Gene: ROPN1L (rhophilin associated tail protein 1 like) Homo sapiens

Analyze

Symbol:

ROPN1L

Name:

rhophilin associated tail protein 1 like

RGD ID:

1319640

HGNC Page

HGNC:24060

Description:

Enables identical protein binding activity. Predicted to be involved in flagellated sperm motility; regulation of protein phosphorylation; and sperm capacitation. Predicted to act upstream of or within cilium movement. Located in cytoplasm and motile cilium.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

AKAP-associated sperm protein; ASP; FLJ23003; FLJ25776; LINC01513; long intergenic non-protein coding RNA 1513; radial spoke head 11 homolog; rhophilin associated tail protein 1-like; ROPN1-like protein; ropporin 1-like; ropporin-1-like protein; RP11-1C1.7; RSPH11; TCONS_00009352

RGD Orthologs

Alliance Orthologs

More Info

more info ...

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	5	10,441,879 - 10,482,807 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	5	10,441,524 - 10,472,029 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh38.p14 Ensembl	5	10,479,371 - 10,482,309 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	5	10,441,991 - 10,465,138 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	5	10,495,015 - 10,518,138 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	5	10,495,014 - 10,518,137	NCBI
Celera	5	10,480,140 - 10,503,231 (+)	NCBI		Celera
Cytogenetic Map	5	p15.2	NCBI
HuRef	5	10,426,064 - 10,449,280 (+)	NCBI		HuRef
CHM1_1	5	10,441,840 - 10,465,006 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	5	10,381,014 - 10,421,974 (+)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

(1->4)-beta-D-glucan (ISO)

1,2-dichloroethane (ISO)

1-naphthyl isothiocyanate (ISO)

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

2-palmitoylglycerol (EXP)

3,3',5,5'-tetrabromobisphenol A (ISO)

6-propyl-2-thiouracil (ISO)

all-trans-retinoic acid (EXP)

amphetamine (ISO)

benzo[a]pyrene (EXP)

bisphenol A (EXP,ISO)

carbon nanotube (ISO)

CGP 52608 (EXP)

chloroprene (ISO)

cisplatin (EXP)

cobalt dichloride (ISO)

Cuprizon (ISO)

diclofenac (ISO)

endosulfan (ISO)

epoxiconazole (ISO)

fenvalerate (ISO)

genistein (EXP)

gentamycin (ISO)

inulin (ISO)

iron atom (EXP)

iron(0) (EXP)

lead diacetate (ISO)

methimazole (ISO)

Muraglitazar (ISO)

N-methyl-4-phenylpyridinium (ISO)

nickel sulfate (EXP)

ozone (EXP,ISO)

paracetamol (ISO)

perfluorooctane-1-sulfonic acid (ISO)

pirinixic acid (ISO)

potassium chromate (EXP)

sodium fluoride (ISO)

tamoxifen (ISO)

Tesaglitazar (ISO)

tetrachloromethane (ISO)

titanium dioxide (ISO)

trichloroethene (ISO)

trichostatin A (EXP)

Triptolide (ISO)

triptonide (ISO)

troglitazone (ISO)

valproic acid (EXP,ISO)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

cilium movement (IEA,ISO)

epithelial cilium movement involved in extracellular fluid movement (IC)

flagellated sperm motility (IEA,ISO,ISS)

regulation of protein phosphorylation (IEA,ISO,ISS)

sperm capacitation (IEA,ISO,ISS)

Cellular Component

cilium (IDA)

cytoplasm (IDA)

extracellular region (IEA)

motile cilium (IDA,IEA)

radial spoke (IEA,ISS)

Molecular Function

identical protein binding (IPI)

protein binding (IPI)

References

References - curated

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

Additional References at PubMed

PMID:8889548	PMID:11278869	PMID:15489335	PMID:18421703	PMID:21424380	PMID:21832049	PMID:21873635	PMID:22446040	PMID:25089627	PMID:25416956	PMID:25600306	PMID:26186194
PMID:27120127	PMID:28514442	PMID:28781691	PMID:31515488	PMID:32296183	PMID:33961781	PMID:35003358

Genomics

Comparative Map Data

ROPN1L
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	5	10,441,879 - 10,482,807 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	5	10,441,524 - 10,472,029 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh38.p14 Ensembl	5	10,479,371 - 10,482,309 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	5	10,441,991 - 10,465,138 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	5	10,495,015 - 10,518,138 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	5	10,495,014 - 10,518,137	NCBI
Celera	5	10,480,140 - 10,503,231 (+)	NCBI		Celera
Cytogenetic Map	5	p15.2	NCBI
HuRef	5	10,426,064 - 10,449,280 (+)	NCBI		HuRef
CHM1_1	5	10,441,840 - 10,465,006 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	5	10,381,014 - 10,421,974 (+)	NCBI		T2T-CHM13v2.0

Ropn1l
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	15	31,441,356 - 31,453,835 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	15	31,441,357 - 31,453,883 (-)	Ensembl		GRCm39 Ensembl
GRCm38	15	31,441,210 - 31,453,689 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	15	31,441,211 - 31,453,737 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	15	31,370,965 - 31,383,444 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	15	31,385,802 - 31,398,236 (-)	NCBI		MGSCv36	mm8
Celera	15	32,132,478 - 32,144,251 (-)	NCBI		Celera
Cytogenetic Map	15	B2	NCBI
cM Map	15	12.94	NCBI

Ropn1l
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	2	84,153,529 - 84,164,216 (-)	NCBI		GRCr8
mRatBN7.2	2	82,442,645 - 82,453,332 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	2	82,441,891 - 82,453,485 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	2	89,482,648 - 89,493,409 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	2	87,604,232 - 87,614,987 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	2	82,660,510 - 82,671,269 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	2	84,520,421 - 84,531,192 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	2	84,520,421 - 84,531,342 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	2	104,193,712 - 104,204,276 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	2	83,530,855 - 83,542,250 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
Celera	2	77,966,073 - 77,977,625 (-)	NCBI		Celera
Cytogenetic Map	2	q23	NCBI

Ropn1l
(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_004955426	285,278 - 296,828 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955426	285,053 - 296,913 (+)	NCBI	ChiLan1.0	ChiLan1.0

ROPN1L
(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	10,685,380 - 10,725,228 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	5	8,839,170 - 8,878,840 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	5	10,757,032 - 10,795,787 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	5	10,614,565 - 10,652,558 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	5	10,614,565 - 10,635,705 (+)	Ensembl	panpan1.1		panPan2

ROPN1L
(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	3,857,643 - 3,875,059 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	34	3,857,641 - 3,875,190 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	34	8,360,300 - 8,377,693 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	34	3,762,071 - 3,779,520 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	34	3,761,306 - 3,779,396 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	34	3,811,982 - 3,829,384 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	34	3,790,480 - 3,807,895 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	34	4,021,371 - 4,038,833 (-)	NCBI		UU_Cfam_GSD_1.0

Ropn1l
(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	236,870,623 - 236,886,427 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936643	2,516,348 - 2,532,753 (+)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936643	2,516,243 - 2,532,149 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

ROPN1L
(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	43,353 - 58,564 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	16	43,299 - 58,569 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1

ROPN1L
(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	9,978,369 - 9,999,007 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	4	9,978,409 - 9,999,009 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666064	18,547,512 - 18,571,543 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Ropn1l
(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	7,787,600 - 7,798,237 (+)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624751	7,787,878 - 7,798,296 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in ROPN1L
12 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 5p15.31-15.2(chr5:9843412-11298705)x3	copy number gain	See cases [RCV000050789]	Chr5:9843412..11298705 [GRCh38] Chr5:9843524..11298817 [GRCh37] Chr5:9896524..11351817 [NCBI36] Chr5:5p15.31-15.2	uncertain significance
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 5p15.33-14.3(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 5p15.33-15.1(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
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(chr5:22149-32248010)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 5p15.33-13.3(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 5p15.33-11(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 5p15.2-15.1(chr5:10212880-16770474)x3	copy number gain	See cases [RCV000136902]	Chr5:10212880..16770474 [GRCh38] Chr5:10212992..16770583 [GRCh37] Chr5:10265992..16823583 [NCBI36] Chr5:5p15.2-15.1	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 5p15.33-14.1(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 5p15.31-15.2(chr5:8824306-14246099)x1	copy number loss	See cases [RCV000137141]	Chr5:8824306..14246099 [GRCh38] Chr5:8824418..14246208 [GRCh37] Chr5:8877418..14299208 [NCBI36] Chr5:5p15.31-15.2	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 5p15.31-15.2(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 5p15.33-13.2(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 5p15.33-15.1(chr5:79146-15509107)x1	copy number loss	See cases [RCV000240157]	Chr5:79146..15509107 [GRCh37] Chr5:5p15.33-15.1	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 5p15.2(chr5:10364492-11324670)x3	copy number gain	See cases [RCV000240334]	Chr5:10364492..11324670 [GRCh37] Chr5:5p15.2	uncertain significance
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 5p15.33-15.1(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 5p15.33-15.1(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 5p15.33-13.2(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 5p15.33-14.3(chr5:113576-23147737)x1	copy number loss	See cases [RCV000448408]	Chr5:113576..23147737 [GRCh37] Chr5:5p15.33-14.3	pathogenic
GRCh37/hg19 5p15.31-14.2(chr5:9120813-24274030)x1	copy number loss	See cases [RCV000448421]	Chr5:9120813..24274030 [GRCh37] Chr5:5p15.31-14.2	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 5p15.33-14.1(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 5p15.33-15.1(chr5:113576-15291661)x1	copy number loss	See cases [RCV000511513]	Chr5:113576..15291661 [GRCh37] Chr5:5p15.33-15.1	pathogenic
GRCh37/hg19 5p15.33-13.3(chr5:25328-30672798)x1	copy number loss	See cases [RCV000515550]	Chr5:25328..30672798 [GRCh37] Chr5:5p15.33-13.3	pathogenic
GRCh37/hg19 5p15.31-15.2(chr5:9798793-11208440)x3	copy number gain	See cases [RCV000511792]	Chr5:9798793..11208440 [GRCh37] Chr5:5p15.31-15.2	likely benign
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-q35.3(chr5:113577-180719789)	copy number gain	See cases [RCV000510723]	Chr5:113577..180719789 [GRCh37] Chr5:5p15.33-q35.3	pathogenic
GRCh37/hg19 5p15.33-15.2(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 5p15.33-14.3(chr5:113576-20240392)x3	copy number gain	See cases [RCV000512567]	Chr5:113576..20240392 [GRCh37] Chr5:5p15.33-14.3	pathogenic
GRCh37/hg19 5p15.33-15.1(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
Single allele	duplication	not provided [RCV000677980]	Chr5:10364492..11324670 [GRCh37] Chr5:5p15.2	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 5p15.33-15.2(chr5:1322680-10762544)x1	copy number loss	not provided [RCV001005649]	Chr5:1322680..10762544 [GRCh37] Chr5:5p15.33-15.2	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 5p15.33-15.2(chr5:113576-14738180)x1	copy number loss	not provided [RCV001005643]	Chr5:113576..14738180 [GRCh37] Chr5:5p15.33-15.2	pathogenic
GRCh37/hg19 5p15.2(chr5:10186394-10983657)x3	copy number gain	not provided [RCV000847635]	Chr5:10186394..10983657 [GRCh37] Chr5:5p15.2	uncertain significance
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 5p15.33-15.2(chr5:113576-11767720)x1	copy number loss	not provided [RCV001005644]	Chr5:113576..11767720 [GRCh37] Chr5:5p15.33-15.2	pathogenic
GRCh37/hg19 5p15.33-13.3(chr5:1-32091038)x1	copy number loss	not provided [RCV002472712]	Chr5:1..32091038 [GRCh37] Chr5:5p15.33-13.3	pathogenic
GRCh37/hg19 5p15.31-14.3(chr5:8081005-22210970)x1	copy number loss	not provided [RCV002472646]	Chr5:8081005..22210970 [GRCh37] Chr5:5p15.31-14.3	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 5p15.2(chr5:10140764-10671308)x3	copy number gain	not provided [RCV001258841]	Chr5:10140764..10671308 [GRCh37] Chr5:5p15.2	uncertain significance
GRCh37/hg19 5p15.2(chr5:10382918-10611579)x3	copy number gain	not provided [RCV001258838]	Chr5:10382918..10611579 [GRCh37] Chr5:5p15.2	uncertain significance
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 5p15.33-13.3(chr5:113576-30712376)x1	copy number loss	See cases [RCV002285039]	Chr5:113576..30712376 [GRCh37] Chr5:5p15.33-13.3	pathogenic
GRCh37/hg19 5p15.33-13.3(chr5:22149-29048823)x1	copy number loss	See cases [RCV001310287]	Chr5:22149..29048823 [GRCh37] Chr5:5p15.33-13.3	pathogenic
NM_031916.5(ROPN1L):c.143C>A (p.Ala48Asp)	single nucleotide variant	not specified [RCV004271662]	Chr5:10448271 [GRCh38] Chr5:10448383 [GRCh37] Chr5:5p15.2	uncertain significance
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 5p15.33-15.1(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
NM_031916.5(ROPN1L):c.190C>A (p.Pro64Thr)	single nucleotide variant	not specified [RCV004238369]	Chr5:10448318 [GRCh38] Chr5:10448430 [GRCh37] Chr5:5p15.2	uncertain significance
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
NM_031916.5(ROPN1L):c.319C>A (p.Pro107Thr)	single nucleotide variant	not specified [RCV004287289]	Chr5:10450015 [GRCh38] Chr5:10450127 [GRCh37] Chr5:5p15.2	uncertain significance
GRCh37/hg19 5p15.2-15.1(chr5:10165922-18156739)x3	copy number gain	Intellectual developmental disorder, autosomal dominant 63, with macrocephaly [RCV003159551]	Chr5:10165922..18156739 [GRCh37] Chr5:5p15.2-15.1	pathogenic\|likely pathogenic
NM_031916.5(ROPN1L):c.398G>C (p.Gly133Ala)	single nucleotide variant	not specified [RCV004271663]	Chr5:10450094 [GRCh38] Chr5:10450206 [GRCh37] Chr5:5p15.2	uncertain significance
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
NM_031916.5(ROPN1L):c.485G>C (p.Arg162Pro)	single nucleotide variant	not specified [RCV004355612]	Chr5:10461251 [GRCh38] Chr5:10461363 [GRCh37] Chr5:5p15.2	uncertain significance
NM_031916.5(ROPN1L):c.52G>A (p.Glu18Lys)	single nucleotide variant	not specified [RCV004348036]	Chr5:10442219 [GRCh38] Chr5:10442331 [GRCh37] Chr5:5p15.2	uncertain significance
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(chr5:113577-21529653)x1	copy number loss	not provided [RCV003485450]	Chr5:113577..21529653 [GRCh37] Chr5:5p15.33-14.3	pathogenic
GRCh37/hg19 5p15.31-15.1(chr5:9002950-15174932)x1	copy number loss	not provided [RCV003485455]	Chr5:9002950..15174932 [GRCh37] Chr5:5p15.31-15.1	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 5p15.33-14.1(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 5p15.33-14.3(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 5p15.32-13.3(chr5:5259461-29748394)x1	copy number loss	not specified [RCV003986556]	Chr5:5259461..29748394 [GRCh37] Chr5:5p15.32-13.3	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 5p15.33-15.1(chr5:113576-17511896)x1	copy number loss	not specified [RCV003986589]	Chr5:113576..17511896 [GRCh37] Chr5:5p15.33-15.1	pathogenic
GRCh37/hg19 5p15.33-15.2(chr5:113576-10835556)x1	copy number loss	not specified [RCV003986599]	Chr5:113576..10835556 [GRCh37] Chr5:5p15.33-15.2	pathogenic
GRCh37/hg19 5p15.33-13.3(chr5:113577-31773283)x3	copy number gain	not provided [RCV004442822]	Chr5:113577..31773283 [GRCh37] Chr5:5p15.33-13.3	pathogenic
GRCh37/hg19 5p15.33-15.2(chr5:113577-13341742)x1	copy number loss	not provided [RCV004442820]	Chr5:113577..13341742 [GRCh37] Chr5:5p15.33-15.2	pathogenic
NM_031916.5(ROPN1L):c.155G>C (p.Gly52Ala)	single nucleotide variant	not specified [RCV004449520]	Chr5:10448283 [GRCh38] Chr5:10448395 [GRCh37] Chr5:5p15.2	uncertain significance
NM_031916.5(ROPN1L):c.160C>G (p.Pro54Ala)	single nucleotide variant	not specified [RCV004449521]	Chr5:10448288 [GRCh38] Chr5:10448400 [GRCh37] Chr5:5p15.2	uncertain significance
NM_031916.5(ROPN1L):c.378G>T (p.Trp126Cys)	single nucleotide variant	not specified [RCV004449522]	Chr5:10450074 [GRCh38] Chr5:10450186 [GRCh37] Chr5:5p15.2	uncertain significance
NM_031916.5(ROPN1L):c.395T>A (p.Leu132His)	single nucleotide variant	not specified [RCV004449523]	Chr5:10450091 [GRCh38] Chr5:10450203 [GRCh37] Chr5:5p15.2	uncertain significance
NM_031916.5(ROPN1L):c.511G>T (p.Val171Phe)	single nucleotide variant	not specified [RCV004449524]	Chr5:10461277 [GRCh38] Chr5:10461389 [GRCh37] Chr5:5p15.2	uncertain significance
NM_031916.5(ROPN1L):c.517C>T (p.Arg173Cys)	single nucleotide variant	not specified [RCV004449525]	Chr5:10461283 [GRCh38] Chr5:10461395 [GRCh37] Chr5:5p15.2	uncertain significance
NM_031916.5(ROPN1L):c.28G>T (p.Ala10Ser)	single nucleotide variant	not specified [RCV004350984]	Chr5:10442195 [GRCh38] Chr5:10442307 [GRCh37] Chr5:5p15.2	uncertain significance

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	674
Count of miRNA genes:	438
Interacting mature miRNAs:	469
Transcripts:	ENST00000274134, ENST00000503804, ENST00000510520, ENST00000512022, ENST00000515762
Prediction methods:	Microtar, Miranda, Rnahybrid, Targetscan
Result types:	miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region

WIAF-1507

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	5	10,440,304 - 10,440,434	UniSTS	GRCh37
Build 36	5	10,493,304 - 10,493,434	RGD	NCBI36
Celera	5	10,478,435 - 10,478,565	RGD
Cytogenetic Map	5	p15.2	UniSTS
HuRef	5	10,424,394 - 10,424,524	UniSTS
GeneMap99-GB4 RH Map	5	38.19	UniSTS
NCBI RH Map	5	53.1	UniSTS

SGC31357

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	5	10,464,991 - 10,465,116	UniSTS	GRCh37
Build 36	5	10,517,991 - 10,518,116	RGD	NCBI36
Celera	5	10,503,084 - 10,503,209	RGD
Cytogenetic Map	5	p15.2	UniSTS
HuRef	5	10,449,133 - 10,449,258	UniSTS
GeneMap99-GB4 RH Map	5	39.72	UniSTS
Whitehead-RH Map	5	41.4	UniSTS
NCBI RH Map	5	53.1	UniSTS

SHGC-82239

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	5	10,455,525 - 10,455,824	UniSTS	GRCh37
Build 36	5	10,508,525 - 10,508,824	RGD	NCBI36
Celera	5	10,493,670 - 10,493,969	RGD
Cytogenetic Map	5	p15.2	UniSTS
HuRef	5	10,439,631 - 10,439,930	UniSTS
TNG Radiation Hybrid Map	5	4555.0	UniSTS

D5S1654E

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	5	10,440,390 - 10,440,469	UniSTS	GRCh37
Build 36	5	10,493,390 - 10,493,469	RGD	NCBI36
Celera	5	10,478,521 - 10,478,600	RGD
Cytogenetic Map	5	p15.2	UniSTS
HuRef	5	10,424,480 - 10,424,559	UniSTS
GeneMap99-GB4 RH Map	5	41.03	UniSTS
NCBI RH Map	5	53.1	UniSTS

Expression

RNA-SEQ Expression

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

alimentary part of gastrointestinal system

circulatory system

endocrine system

exocrine system

hemolymphoid system

hepatobiliary system

integumental system

musculoskeletal system

nervous system

renal system

reproductive system

respiratory system

sensory system

adipose tissue

appendage

entire extraembryonic component

High

Medium

464

478

100

415

146

Low

509

718

1037

706

1403

232

2217

242

489

1314

1022

639

Below cutoff

1825

1659

633

517

445

368

2641

1768

1371

162

529

139

151

181

1907

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_001201466	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_031916	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_006714504	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_017009946	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_017009947	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047417808	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054353626	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054353627	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054353628	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054353629	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054353630	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AC092336	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF239723	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK026656	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK098642	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC014607	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BX113042	(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
	CV024170	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DB479784	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

RefSeq Acc Id:

ENST00000274134 ⟹ ENSP00000274134

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	5	10,441,879 - 10,465,026 (+)	Ensembl

RefSeq Acc Id:

ENST00000416930

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	5	10,479,371 - 10,482,309 (+)	Ensembl

RefSeq Acc Id:

ENST00000503804 ⟹ ENSP00000421405

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	5	10,441,524 - 10,465,024 (+)	Ensembl

RefSeq Acc Id:

ENST00000510520

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	5	10,441,876 - 10,472,029 (+)	Ensembl

RefSeq Acc Id:

ENST00000512022

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	5	10,442,081 - 10,461,538 (+)	Ensembl

RefSeq Acc Id:

ENST00000515762

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	5	10,441,954 - 10,461,469 (+)	Ensembl

RefSeq Acc Id:

NM_001201466 ⟹ NP_001188395

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	5	10,441,879 - 10,465,026 (+)	NCBI
GRCh37	5	10,441,974 - 10,465,138 (+)	ENTREZGENE
HuRef	5	10,426,064 - 10,449,280 (+)	ENTREZGENE
CHM1_1	5	10,441,840 - 10,465,006 (+)	NCBI
T2T-CHM13v2.0	5	10,381,014 - 10,404,206 (+)	NCBI

Sequence:

show sequence

GCGTCCCGGGTGCCTGGATACCGAGCGCGTCCGTAGTGGCGGCTGGCGCTAGGGAACTGCAGGG
TCTAGGGTGTTGTCGGAGTGGCAGTTGGTCCGAATTTCTCCCGAAGCCCGCGGAGGAGCGGCGC
GCCGCGATTCACCAGCCTGGTCCCTTCTGCGGAGAGCGATGCCGCTTCCCGACACCATGTTCTG
CGCTCAGCAGATCCACATTCCCCCGGAGCTGCCGGACATCCTGAAGCAATTCACCAAGGCTGCC
ATCCGCACCCAGCCGGCCGACGTGCTGCGGTGGTCCGCGGGCTATTTTTCAGCTCTGTCGAGAG
GAGATCCACTTCCTGTAAAGGACAGAATGGAAATGCCCACGGCAACCCAGAAAACAGACACAGG
CCTGACTCAAGGACTCCTGAAAGTTTTGCACAAGCAGTGTCACCACAAGCGGTATGTGGAATTA
ACAGATCTTGAGCAGAAGTGGAAGAACTTGTGCCTGCCGAAGGAAAAATTCAAAGCGCTCTTAC
AACTGGATCCTTGTGAAAACAAAATCAAGTGGATAAACTTTTTAGCGCTTGGATGCAGCATGCT
TGGTGGGTCCTTGAACACTGCGCTGAAGCACCTGTGCGAGATCCTCACGGACGATCCGGAGGGC
GGGCCCGCTCGCATCCCCTTCAAGACGTTTTCCTACGTTTACCGCTACTTGGCCAGATTAGACT
CAGATGTGTCTCCCTTGGAGACGGAATCCTACCTTGCCTCTCTAAAGGAAAATATAGACGCCAG
GAAGAACGGCATGATAGGTCTTTCAGATTTCTTCTTTCCAAAGAGGAAACTTTTAGAAAGCATT
GAAAACTCTGAAGATGTAGGCCATTAATACAGAGAAGAATACATTTTAATGTCAAAATAGTGCT
CTTTAAAATTCTGGCACCAAATACAACTTACCCTGAATCACA

hide sequence

RefSeq Acc Id:

NM_031916 ⟹ NP_114122

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	5	10,441,879 - 10,465,026 (+)	NCBI
GRCh37	5	10,441,974 - 10,465,138 (+)	ENTREZGENE
Build 36	5	10,495,015 - 10,518,138 (+)	NCBI Archive
Celera	5	10,480,140 - 10,503,231 (+)	RGD
HuRef	5	10,426,064 - 10,449,280 (+)	ENTREZGENE
CHM1_1	5	10,441,840 - 10,465,006 (+)	NCBI
T2T-CHM13v2.0	5	10,381,014 - 10,404,206 (+)	NCBI

Sequence:

show sequence

GCGTCCCGGGTGCCTGGATACCGAGCGCGTCCGTAGTGGCGGCTGGCGCTAGGGAACTGCAGGG
TCTAGGGTGTTGTCGGAGTGGCAGTTGGTCCGAATTTCTCCCGAAGCCCGCGGAGGAGCGGGTA
AGAGCCCCGCGAATCCGGCCCCAACCTCGGGAACGGGATGGGAGGCGGCCCTGGCCGCAAGCCC
CGCGCTGCTAGCGGGTCCACCGCGTCGTAGCCGACAGCCGCCCTTCTTCCTCGCAGCGCGCCGC
GATTCACCAGCCTGGTCCCTTCTGCGGAGAGCGATGCCGCTTCCCGACACCATGTTCTGCGCTC
AGCAGATCCACATTCCCCCGGAGCTGCCGGACATCCTGAAGCAATTCACCAAGGCTGCCATCCG
CACCCAGCCGGCCGACGTGCTGCGGTGGTCCGCGGGCTATTTTTCAGCTCTGTCGAGAGGAGAT
CCACTTCCTGTAAAGGACAGAATGGAAATGCCCACGGCAACCCAGAAAACAGACACAGGCCTGA
CTCAAGGACTCCTGAAAGTTTTGCACAAGCAGTGTCACCACAAGCGGTATGTGGAATTAACAGA
TCTTGAGCAGAAGTGGAAGAACTTGTGCCTGCCGAAGGAAAAATTCAAAGCGCTCTTACAACTG
GATCCTTGTGAAAACAAAATCAAGTGGATAAACTTTTTAGCGCTTGGATGCAGCATGCTTGGTG
GGTCCTTGAACACTGCGCTGAAGCACCTGTGCGAGATCCTCACGGACGATCCGGAGGGCGGGCC
CGCTCGCATCCCCTTCAAGACGTTTTCCTACGTTTACCGCTACTTGGCCAGATTAGACTCAGAT
GTGTCTCCCTTGGAGACGGAATCCTACCTTGCCTCTCTAAAGGAAAATATAGACGCCAGGAAGA
ACGGCATGATAGGTCTTTCAGATTTCTTCTTTCCAAAGAGGAAACTTTTAGAAAGCATTGAAAA
CTCTGAAGATGTAGGCCATTAATACAGAGAAGAATACATTTTAATGTCAAAATAGTGCTCTTTA
AAATTCTGGCACCAAATACAACTTACCCTGAATCACA

hide sequence

RefSeq Acc Id:

XM_006714504 ⟹ XP_006714567

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	5	10,441,879 - 10,482,303 (+)	NCBI

Sequence:

show sequence

GGTGCCTGGATACCGAGCGCGTCCGTAGTGGCGGCTGGCGCTAGGGAACTGCAGGGTCTAGGGT
GTTGTCGGAGTGGCAGTTGGTCCGAATTTCTCCCGAAGCCCGCGGAGGAGCGGCGCGCCGCGAT
TCACCAGCCTGGTCCCTTCTGCGGAGAGCGATGCCGCTTCCCGACACCATGTTCTGCGCTCAGC
AGATCCACATTCCCCCGGAGCTGCCGGACATCCTGAAGCAATTCACCAAGGCTGCCATCCGCAC
CCAGCCGGCCGACGTGCTGCGGTGGTCCGCGGGCTATTTTTCAGCTCTGTCGAGAGGAGATCCA
CTTCCTGTAAAGGACAGAATGGAAATGCCCACGGCAACCCAGAAAACAGACACAGGCCTGACTC
AAGGACTCCTGAAAGTTTTGCACAAGCAGTGTCACCACAAGCGGTATGTGGAATTAACAGATCT
TGAGCAGAAGTGGAAGAACTTGTGCCTGCCGAAGGAAAAATTCAAAGCGCTCTTACAACTGGAT
CCTTGTGAAAACAAAATCAAGTGGATAAACTTTTTAGCGCTTGGATGCAGCATGCTTGGTGGGT
CCTTGAACACTGCGCTGAAGCACCTGTGCGAGATCCTCACGGACGATCCGGAGGGCGGGCCCGC
TCGCATCCCCTTCAAGACGTTTTCCTACGTTTACCGCTACTTGGCCAGATTAGACTCAGATGTG
TCTCCCTTGGAGACGGAATCCTACCTTGCCTCTCTAAAGGAAAATATGATTAGAATGGGCGCTC
AGGCTTGGCTCAGACACCCCACATCTTTAGGGAGACACCACCTCTTTGCTTCTCCAAGGCTGTT
TGCTGCATCTGAAAAGACAATCTGGAACAAGAGGAGAGTCAGGCCAGCCACAGTGGTTCATGCC
TATAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGAATCACTTGAGGTCAGGAGTTCGAGACCA
GCCTGGCCAACATGGGGAAACCCTGTCTCTACTAAAAATACAAAAATCAGCCGGGTGTGATGGT
TGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTAAACCCAGGAGGTGG
AGATTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGTGACAGACGAGACTCCGTCAA
AAAAAAAAAAAAAAGGTTAAAATGCTACACTTTCTTATCATAGTTTACCGCAATTAAAAATCAA
AAC

hide sequence

RefSeq Acc Id:

XM_017009946 ⟹ XP_016865435

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	5	10,441,879 - 10,471,930 (+)	NCBI

Sequence:

show sequence

GGTGCCTGGATACCGAGCGCGTCCGTAGTGGCGGCTGGCGCTAGGGAACTGCAGGGTCTAGGGT
GTTGTCGGAGTGGCAGTTGGTCCGAATTTCTCCCGAAGCCCGCGGAGGAGCGGCGCGCCGCGAT
TCACCAGCCTGGTCCCTTCTGCGGAGAGCGATGCCGCTTCCCGACACCATGTTCTGCGCTCAGC
AGATCCACATTCCCCCGGAGCTGCCGGACATCCTGAAGCAATTCACCAAGGCTGCCATCCGCAC
CCAGCCGGCCGACGTGCTGCGGTGGTCCGCGGGCTATTTTTCAGCTCTGTCGAGAGGAGATCCA
CTTCCTGTAAAGGACAGAATGGAAATGCCCACGGCAACCCAGAAAACAGACACAGGCCTGACTC
AAGGACTCCTGAAAGTTTTGCACAAGCAGTGTCACCACAAGCGGTATGTGGAATTAACAGATCT
TGAGCAGAAGTGGAAGAACTTGTGCCTGCCGAAGGAAAAATTCAAAGCGCTCTTACAACTGGAT
CCTTGTGAAAACAAAATCAAGTGGATAAACTTTTTAGCGCTTGGATGCAGCATGCTTGGTGGGT
CCTTGAACACTGCGCTGAAGCACCTGTGCGAGATCCTCACGGACGATCCGGAGGGCGGGCCCGC
TCGCATCCCCTTCAAGACGTTTTCCTACGTTTACCGCTACTTGGCCAGATTAGACTCAGATGTG
TCTCCCTTGGAGACGGAATCCTACCTTGCCTCTCTAAAGGAAAATATGGTCTTGTCCTGGCTGA
GCACAACCAGAATCTGGAGAGAAGAAAGCCTCATGATACACAGGTCAGCTATGCTGGGCTCAGA
GCATGGAAGAGCCAGGAGAGGCTAAAGGAATGTGCTAGAC

hide sequence

RefSeq Acc Id:

XM_017009947 ⟹ XP_016865436

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	5	10,441,879 - 10,482,807 (+)	NCBI

Sequence:

show sequence

GGTGCCTGGATACCGAGCGCGTCCGTAGTGGCGGCTGGCGCTAGGGAACTGCAGGGTCTAGGGT
GTTGTCGGAGTGGCAGTTGGTCCGAATTTCTCCCGAAGCCCGCGGAGGAGCGGCGCGCCGCGAT
TCACCAGCCTGGTCCCTTCTGCGGAGAGCGATGCCGCTTCCCGACACCATGTTCTGCGCTCAGC
AGATCCACATTCCCCCGGAGCTGCCGGACATCCTGAAGCAATTCACCAAGGCTGCCATCCGCAC
CCAGCCGGCCGACGTGCTGCGGTGGTCCGCGGGCTATTTTTCAGCTCTGTCGAGAGGAGATCCA
CTTCCTGTAAAGGACAGAATGGAAATGCCCACGGCAACCCAGAAAACAGACACAGGCCTGACTC
AAGGACTCCTGAAAGTTTTGCACAAGCAGTGTCACCACAAGCGGTATGTGGAATTAACAGATCT
TGAGCAGAAGTGGAAGAACTTGTGCCTGCCGAAGGAAAAATTCAAAGCGCTCTTACAACTGGAT
CCTTGTGAAAACAAAATCAAGTGGATAAACTTTTTAGCGCTTGGATGCAGCATGCTTGGTGGGT
CCTTGAACACTGCGCTGAAGCACCTGTGCGAGATCCTCACGGACGATCCGGAGGGCGGGCCCGC
TCGCATCCCCTTCAAGACGTTTTCCTACGTTTACCGCTACTTGGCCAGATTAGACTCAGATGTG
TCTCCCTTGGAGACGGAATCCTACCTTGCCTCTCTAAAGGAAAATATGATTAGAATGGGCGCTC
AGGCTTGGCTCAGACACCCCACATCTTTAGTTGCAATCAGTGAAGAATCATGAGATAAAATAAT
CTTG

hide sequence

RefSeq Acc Id:

XM_047417808 ⟹ XP_047273764

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	5	10,441,879 - 10,474,151 (+)	NCBI

RefSeq Acc Id:

XM_054353626 ⟹ XP_054209601

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	5	10,381,014 - 10,421,610 (+)	NCBI

RefSeq Acc Id:

XM_054353627 ⟹ XP_054209602

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	5	10,381,014 - 10,421,497 (+)	NCBI

RefSeq Acc Id:

XM_054353628 ⟹ XP_054209603

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	5	10,381,014 - 10,411,097 (+)	NCBI

RefSeq Acc Id:

XM_054353629 ⟹ XP_054209604

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	5	10,381,014 - 10,413,318 (+)	NCBI

RefSeq Acc Id:

XM_054353630 ⟹ XP_054209605

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	5	10,381,014 - 10,421,974 (+)	NCBI

Protein Sequences


Protein RefSeqs	NP_001188395	(Get FASTA)	NCBI Sequence Viewer
	NP_114122	(Get FASTA)	NCBI Sequence Viewer
	XP_006714567	(Get FASTA)	NCBI Sequence Viewer
	XP_016865435	(Get FASTA)	NCBI Sequence Viewer
	XP_016865436	(Get FASTA)	NCBI Sequence Viewer
	XP_047273764	(Get FASTA)	NCBI Sequence Viewer
	XP_054209601	(Get FASTA)	NCBI Sequence Viewer
	XP_054209602	(Get FASTA)	NCBI Sequence Viewer
	XP_054209603	(Get FASTA)	NCBI Sequence Viewer
	XP_054209604	(Get FASTA)	NCBI Sequence Viewer
	XP_054209605	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAG59587	(Get FASTA)	NCBI Sequence Viewer
	AAH14607	(Get FASTA)	NCBI Sequence Viewer
	BAB15517	(Get FASTA)	NCBI Sequence Viewer
	EAX08063	(Get FASTA)	NCBI Sequence Viewer
	EAX08064	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000274134
	ENSP00000274134.4
	ENSP00000421405
	ENSP00000421405.1
GenBank Protein	Q96C74	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:

NP_114122 ⟸ NM_031916

- UniProtKB:

D3DTC9 (UniProtKB/Swiss-Prot), Q9BZX0 (UniProtKB/Swiss-Prot), Q96C74 (UniProtKB/Swiss-Prot)

- Sequence:

show sequence

MPLPDTMFCAQQIHIPPELPDILKQFTKAAIRTQPADVLRWSAGYFSALSRGDPLPVKDRMEMP
TATQKTDTGLTQGLLKVLHKQCHHKRYVELTDLEQKWKNLCLPKEKFKALLQLDPCENKIKWIN
FLALGCSMLGGSLNTALKHLCEILTDDPEGGPARIPFKTFSYVYRYLARLDSDVSPLETESYLA
SLKENIDARKNGMIGLSDFFFPKRKLLESIENSEDVGH

hide sequence

RefSeq Acc Id:

NP_001188395 ⟸ NM_001201466

- UniProtKB:

D3DTC9 (UniProtKB/Swiss-Prot), Q9BZX0 (UniProtKB/Swiss-Prot), Q96C74 (UniProtKB/Swiss-Prot)

- Sequence:

show sequence

MPLPDTMFCAQQIHIPPELPDILKQFTKAAIRTQPADVLRWSAGYFSALSRGDPLPVKDRMEMP
TATQKTDTGLTQGLLKVLHKQCHHKRYVELTDLEQKWKNLCLPKEKFKALLQLDPCENKIKWIN
FLALGCSMLGGSLNTALKHLCEILTDDPEGGPARIPFKTFSYVYRYLARLDSDVSPLETESYLA
SLKENIDARKNGMIGLSDFFFPKRKLLESIENSEDVGH

hide sequence

RefSeq Acc Id:

XP_006714567 ⟸ XM_006714504

- Peptide Label:

isoform X1

- Sequence:

show sequence

MPLPDTMFCAQQIHIPPELPDILKQFTKAAIRTQPADVLRWSAGYFSALSRGDPLPVKDRMEMP
TATQKTDTGLTQGLLKVLHKQCHHKRYVELTDLEQKWKNLCLPKEKFKALLQLDPCENKIKWIN
FLALGCSMLGGSLNTALKHLCEILTDDPEGGPARIPFKTFSYVYRYLARLDSDVSPLETESYLA
SLKENMIRMGAQAWLRHPTSLGRHHLFASPRLFAASEKTIWNKRRVRPATVVHAYNPSTLGGRG
R

hide sequence

RefSeq Acc Id:

XP_016865436 ⟸ XM_017009947

- Peptide Label:

isoform X3

- Sequence:

show sequence

MPLPDTMFCAQQIHIPPELPDILKQFTKAAIRTQPADVLRWSAGYFSALSRGDPLPVKDRMEMP
TATQKTDTGLTQGLLKVLHKQCHHKRYVELTDLEQKWKNLCLPKEKFKALLQLDPCENKIKWIN
FLALGCSMLGGSLNTALKHLCEILTDDPEGGPARIPFKTFSYVYRYLARLDSDVSPLETESYLA
SLKENMIRMGAQAWLRHPTSLVAISEES

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RefSeq Acc Id:

XP_016865435 ⟸ XM_017009946

- Peptide Label:

isoform X2

- Sequence:

show sequence

MPLPDTMFCAQQIHIPPELPDILKQFTKAAIRTQPADVLRWSAGYFSALSRGDPLPVKDRMEMP
TATQKTDTGLTQGLLKVLHKQCHHKRYVELTDLEQKWKNLCLPKEKFKALLQLDPCENKIKWIN
FLALGCSMLGGSLNTALKHLCEILTDDPEGGPARIPFKTFSYVYRYLARLDSDVSPLETESYLA
SLKENMVLSWLSTTRIWREESLMIHRSAMLGSEHGRARRG

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RefSeq Acc Id:

ENSP00000421405 ⟸ ENST00000503804

RefSeq Acc Id:

ENSP00000274134 ⟸ ENST00000274134

RefSeq Acc Id:	XP_047273764 ⟸ XM_047417808
- Peptide Label:	isoform X2

RefSeq Acc Id:	XP_054209605 ⟸ XM_054353630
- Peptide Label:	isoform X3

RefSeq Acc Id:	XP_054209601 ⟸ XM_054353626
- Peptide Label:	isoform X1

RefSeq Acc Id:	XP_054209602 ⟸ XM_054353627
- Peptide Label:	isoform X1

RefSeq Acc Id:	XP_054209604 ⟸ XM_054353629
- Peptide Label:	isoform X2

RefSeq Acc Id:	XP_054209603 ⟸ XM_054353628
- Peptide Label:	isoform X2

Protein Domains

RIIa

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q96C74-F1-model_v2	AlphaFold	Q96C74	1-230	view protein structure

Promoters

RGD ID:

6869250

Promoter ID:

EPDNEW_H7790

Type:

initiation region

Name:

ROPN1L_1

Description:

rhophilin associated tail protein 1 like

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	10,441,911 - 10,441,971	EPDNEW

RGD ID:

6803517

Promoter ID:

HG_KWN:49790

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

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

Transcripts:

OTTHUMT00000206995

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	5	10,494,361 - 10,494,922 (+)	MPROMDB

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:24060	AgrOrtholog
COSMIC	ROPN1L	COSMIC
Ensembl Genes	ENSG00000145491	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
	ENSG00000246016	Ensembl
Ensembl Transcript	ENST00000274134	ENTREZGENE
	ENST00000274134.5	UniProtKB/Swiss-Prot
	ENST00000503804	ENTREZGENE
	ENST00000503804.5	UniProtKB/Swiss-Prot
Gene3D-CATH	cAMP-dependent protein kinase regulatory subunit, dimerization-anchoring domain	UniProtKB/Swiss-Prot
GTEx	ENSG00000145491	GTEx
	ENSG00000246016	GTEx
HGNC ID	HGNC:24060	ENTREZGENE
Human Proteome Map	ROPN1L	Human Proteome Map
InterPro	ROP_DD	UniProtKB/Swiss-Prot
KEGG Report	hsa:83853	UniProtKB/Swiss-Prot
NCBI Gene	83853	ENTREZGENE
OMIM	611756	OMIM
PANTHER	ROPPORIN-1-LIKE PROTEIN	UniProtKB/Swiss-Prot
	ROPPORIN-1-LIKE PROTEIN	UniProtKB/Swiss-Prot
PharmGKB	PA134956127	PharmGKB
Superfamily-SCOP	Dimerization-anchoring domain of cAMP-dependent PK regulatory subunit	UniProtKB/Swiss-Prot
UniProt	D3DTC9	ENTREZGENE
	Q96C74	ENTREZGENE
	Q9BZX0	ENTREZGENE
	ROP1L_HUMAN	UniProtKB/Swiss-Prot
UniProt Secondary	D3DTC9	UniProtKB/Swiss-Prot
	Q9BZX0	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2023-11-16	ROPN1L	rhophilin associated tail protein 1 like	LINC01513	long intergenic non-protein coding RNA 1513	Data merged from RGD:13514036	737654	PROVISIONAL
2016-05-10	ROPN1L	rhophilin associated tail protein 1 like	ROPN1L	rhophilin associated tail protein 1-like	Symbol and/or name change	5135510	APPROVED
2011-07-27	ROPN1L	rhophilin associated tail protein 1-like	ROPN1L	ropporin 1-like	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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