RIPOR2 (RHO family interacting cell polarization regulator 2) - Rat Genome Database

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Gene: RIPOR2 (RHO family interacting cell polarization regulator 2) Homo sapiens
Analyze
Symbol: RIPOR2
Name: RHO family interacting cell polarization regulator 2
RGD ID: 1315839
HGNC Page HGNC:13872
Description: Enables 14-3-3 protein binding activity. Involved in several processes, including negative regulation of Rho guanyl-nucleotide exchange factor activity; negative regulation of T cell activation; and positive regulation of cellular component organization. Acts upstream of or within sensory perception of sound. Located in cytoplasm; cytoskeleton; and filopodium. Implicated in autosomal dominant nonsyndromic deafness 21 and autosomal recessive nonsyndromic deafness 104.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: C6orf32; DFNA21; DFNB104; DIFF40; DIFF48; FAM65B; family with sequence similarity 65 member B; family with sequence similarity 65, member B; hypothetical protein LOC9750; KIAA0386; myogenesis-related and NCAM-associated protein homolog; MYONAP; PL48; rho family-interacting cell polarization regulator 2
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38624,804,284 - 25,042,168 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl624,804,282 - 25,042,170 (-)EnsemblGRCh38hg38GRCh38
GRCh37624,804,512 - 25,042,396 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36624,947,566 - 24,985,562 (-)NCBINCBI36Build 36hg18NCBI36
Build 34624,947,575 - 24,985,562NCBI
Celera626,037,884 - 26,138,491 (-)NCBICelera
Cytogenetic Map6p22.3NCBI
HuRef624,753,953 - 24,854,449 (-)NCBIHuRef
CHM1_1624,808,618 - 24,913,299 (-)NCBICHM1_1
T2T-CHM13v2.0624,675,432 - 24,907,349 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (EXP)
17beta-estradiol  (ISO)
17beta-estradiol 3-benzoate  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
3,4-methylenedioxymethamphetamine  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-hydroxyphenyl retinamide  (ISO)
6-propyl-2-thiouracil  (ISO)
8-Br-cAMP  (EXP)
acetamide  (ISO)
acrylamide  (EXP)
aflatoxin B1  (EXP,ISO)
all-trans-retinoic acid  (EXP)
antirheumatic drug  (EXP)
arsenous acid  (EXP)
benzo[a]pyrene  (EXP,ISO)
Benzo[k]fluoranthene  (ISO)
bis(2-ethylhexyl) phthalate  (EXP)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
buta-1,3-diene  (ISO)
butan-1-ol  (EXP)
cadmium dichloride  (ISO)
carbamazepine  (EXP)
carbon nanotube  (ISO)
chloroprene  (ISO)
cobalt dichloride  (ISO)
cyclosporin A  (EXP)
dexamethasone  (EXP)
diarsenic trioxide  (EXP)
dimethylarsinic acid  (ISO)
diuron  (ISO)
dorsomorphin  (EXP)
entinostat  (EXP)
ethanol  (ISO)
ethyl methanesulfonate  (EXP)
fenvalerate  (ISO)
fipronil  (ISO)
folic acid  (ISO)
fulvestrant  (EXP)
furan  (ISO)
genistein  (EXP)
gentamycin  (ISO)
isobutanol  (EXP)
melphalan  (EXP)
mercury dibromide  (EXP)
methamphetamine  (ISO)
methyl methanesulfonate  (EXP)
methylarsonic acid  (ISO)
methylmercury chloride  (EXP)
N-nitrosodiethylamine  (ISO)
nickel atom  (EXP)
oxaliplatin  (ISO)
ozone  (ISO)
paracetamol  (EXP)
perfluorononanoic acid  (EXP)
phenobarbital  (ISO)
phenylmercury acetate  (EXP)
raloxifene  (EXP)
resveratrol  (EXP)
rotenone  (ISO)
SB 431542  (EXP)
silver atom  (ISO)
silver(0)  (ISO)
sodium arsenate  (ISO)
sodium arsenite  (EXP,ISO)
sunitinib  (EXP)
tamoxifen  (EXP)
temozolomide  (EXP)
testosterone  (ISO)
tetraphene  (ISO)
thioacetamide  (ISO)
topotecan  (ISO)
trichostatin A  (EXP)
triptonide  (ISO)
tungsten  (ISO)
valproic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

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
3. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:9055809   PMID:9205841   PMID:9786461   PMID:12369935   PMID:12477932   PMID:15146197   PMID:16344560   PMID:17150207   PMID:17825087   PMID:20936779   PMID:21190562   PMID:21516116  
PMID:21988832   PMID:22554406   PMID:23241886   PMID:24687993   PMID:24958875   PMID:25416956   PMID:25588844   PMID:25953057   PMID:26514267   PMID:27269051   PMID:27556504   PMID:28169274  
PMID:30254631   PMID:30280293   PMID:30720667   PMID:31900314   PMID:32296183   PMID:36497200  


Genomics

Comparative Map Data
RIPOR2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38624,804,284 - 25,042,168 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl624,804,282 - 25,042,170 (-)EnsemblGRCh38hg38GRCh38
GRCh37624,804,512 - 25,042,396 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36624,947,566 - 24,985,562 (-)NCBINCBI36Build 36hg18NCBI36
Build 34624,947,575 - 24,985,562NCBI
Celera626,037,884 - 26,138,491 (-)NCBICelera
Cytogenetic Map6p22.3NCBI
HuRef624,753,953 - 24,854,449 (-)NCBIHuRef
CHM1_1624,808,618 - 24,913,299 (-)NCBICHM1_1
T2T-CHM13v2.0624,675,432 - 24,907,349 (-)NCBIT2T-CHM13v2.0
Ripor2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391324,685,369 - 24,917,789 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1324,685,508 - 24,917,799 (+)EnsemblGRCm39 Ensembl
GRCm381324,501,524 - 24,733,806 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1324,501,525 - 24,733,816 (+)EnsemblGRCm38mm10GRCm38
MGSCv371324,706,479 - 24,825,675 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361324,676,030 - 24,713,412 (+)NCBIMGSCv36mm8
Celera1324,845,270 - 24,964,462 (+)NCBICelera
Cytogenetic Map13A3.1NCBI
Ripor2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21740,323,867 - 40,547,482 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1740,323,867 - 40,548,092 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1740,391,656 - 40,489,560 (-)NCBIRnor_SHR
UTH_Rnor_SHRSP_BbbUtx_1.01741,995,696 - 42,093,591 (-)NCBIRnor_SHRSP
UTH_Rnor_WKY_Bbb_1.01740,278,937 - 40,376,743 (-)NCBIRnor_WKY
Rnor_6.01742,324,594 - 42,549,907 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1742,324,594 - 42,422,053 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01744,192,188 - 44,415,275 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41747,394,370 - 47,492,203 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11747,404,460 - 47,517,088 (-)NCBI
Celera1739,960,748 - 40,058,550 (-)NCBICelera
Cytogenetic Map17p11NCBI
Ripor2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554832,048,324 - 2,256,589 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554832,048,236 - 2,257,078 (+)NCBIChiLan1.0ChiLan1.0
RIPOR2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1624,973,412 - 25,099,034 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl624,973,412 - 25,204,745 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0624,642,239 - 24,768,074 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
RIPOR2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13522,823,053 - 23,041,765 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3522,824,106 - 23,041,743 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3522,790,986 - 23,009,662 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.03522,945,432 - 23,164,390 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl3522,945,030 - 23,164,199 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.13522,750,468 - 22,968,713 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.03522,799,010 - 23,016,747 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.03524,234,583 - 24,454,231 (-)NCBIUU_Cfam_GSD_1.0
Ripor2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244049462,388,691 - 2,556,595 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366711,051,742 - 1,093,021 (-)EnsemblSpeTri2.0
SpeTri2.0NW_0049366711,064,937 - 1,232,985 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
RIPOR2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl719,609,358 - 19,838,093 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1719,609,358 - 19,842,345 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2720,762,727 - 20,990,748 (-)NCBISscrofa10.2Sscrofa10.2susScr3
RIPOR2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11747,197,067 - 47,441,413 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1747,308,984 - 47,451,779 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604424,739,532 - 24,983,846 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0

Variants

.
Variants in RIPOR2
219 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 6p22.3-21.33(chr6:18120520-30767516)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052180]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052180]|See cases [RCV000052180] Chr6:18120520..30767516 [GRCh38]
Chr6:18120751..30735293 [GRCh37]
Chr6:18228730..30843272 [NCBI36]
Chr6:6p22.3-21.33
pathogenic
NM_001286445.1(FAM65B):c.651+1969A>C single nucleotide variant Lung cancer [RCV000096774] Chr6:24863332 [GRCh38]
Chr6:24863560 [GRCh37]
Chr6:6p22.3
uncertain significance
NM_001286445.3(RIPOR2):c.1245G>T (p.Leu415=) single nucleotide variant not specified [RCV000602728] Chr6:24843474 [GRCh38]
Chr6:24843702 [GRCh37]
Chr6:6p22.3
likely benign
GRCh38/hg38 6p22.3-22.2(chr6:22519454-25226331)x1 copy number loss See cases [RCV000133948] Chr6:22519454..25226331 [GRCh38]
Chr6:22519683..25226559 [GRCh37]
Chr6:22627662..25334538 [NCBI36]
Chr6:6p22.3-22.2
pathogenic
GRCh38/hg38 6p22.3-22.2(chr6:23252522-25967277)x1 copy number loss See cases [RCV000138710] Chr6:23252522..25967277 [GRCh38]
Chr6:23252750..25967505 [GRCh37]
Chr6:23360729..26075484 [NCBI36]
Chr6:6p22.3-22.2
uncertain significance
GRCh38/hg38 6p25.2-21.33(chr6:3224310-30657190)x3 copy number gain See cases [RCV000138956] Chr6:3224310..30657190 [GRCh38]
Chr6:3224544..30624967 [GRCh37]
Chr6:3169543..30732946 [NCBI36]
Chr6:6p25.2-21.33
pathogenic
GRCh38/hg38 6p22.3(chr6:24686052-24833713)x3 copy number gain See cases [RCV000140295] Chr6:24686052..24833713 [GRCh38]
Chr6:24686280..24833941 [GRCh37]
Chr6:24794259..24941920 [NCBI36]
Chr6:6p22.3
uncertain significance
GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3 copy number gain See cases [RCV000143497] Chr6:156974..46789291 [GRCh38]
Chr6:156974..46757028 [GRCh37]
Chr6:101974..46864987 [NCBI36]
Chr6:6p25.3-12.3
pathogenic
NM_001286445.3(RIPOR2):c.189-1G>A single nucleotide variant Autosomal recessive nonsyndromic hearing loss 104 [RCV000190353] Chr6:24873800 [GRCh38]
Chr6:24874028 [GRCh37]
Chr6:6p22.3
pathogenic
NM_001286445.3(RIPOR2):c.2540G>A (p.Arg847Gln) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 104 [RCV001702811]|not provided [RCV002232243]|not specified [RCV000600084] Chr6:24828262 [GRCh38]
Chr6:24828490 [GRCh37]
Chr6:6p22.3
benign
NM_001286445.3(RIPOR2):c.1613C>T (p.Ser538Leu) single nucleotide variant not provided [RCV000514723]|not specified [RCV000605229] Chr6:24843106 [GRCh38]
Chr6:24843334 [GRCh37]
Chr6:6p22.3
benign|likely benign
NM_001286445.3(RIPOR2):c.1495C>T (p.Arg499Cys) single nucleotide variant not provided [RCV000992749]|not specified [RCV000600260] Chr6:24843224 [GRCh38]
Chr6:24843452 [GRCh37]
Chr6:6p22.3
benign
NM_001286445.3(RIPOR2):c.2895A>G (p.Leu965=) single nucleotide variant not provided [RCV000992753]|not specified [RCV000605710] Chr6:24818599 [GRCh38]
Chr6:24818827 [GRCh37]
Chr6:6p22.3
benign
NM_001286445.3(RIPOR2):c.2697A>C (p.Arg899Ser) single nucleotide variant not provided [RCV000728420] Chr6:24825397 [GRCh38]
Chr6:24825625 [GRCh37]
Chr6:6p22.3
uncertain significance
NM_001286445.3(RIPOR2):c.3071A>G (p.Gln1024Arg) single nucleotide variant not provided [RCV000728514] Chr6:24806446 [GRCh38]
Chr6:24806674 [GRCh37]
Chr6:6p22.3
uncertain significance
NM_001286445.3(RIPOR2):c.3133A>G (p.Thr1045Ala) single nucleotide variant not provided [RCV000730808]|not specified [RCV000825225] Chr6:24806384 [GRCh38]
Chr6:24806612 [GRCh37]
Chr6:6p22.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3 copy number gain See cases [RCV000512067] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482) copy number gain See cases [RCV000510595] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27
pathogenic
NM_001286445.3(RIPOR2):c.1086A>G (p.Ala362=) single nucleotide variant not provided [RCV000712931]|not specified [RCV000606818] Chr6:24848103 [GRCh38]
Chr6:24848331 [GRCh37]
Chr6:6p22.3
benign
NM_001286445.3(RIPOR2):c.2811T>C (p.Ser937=) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 104 [RCV001702525]|not provided [RCV002232233]|not specified [RCV000594587] Chr6:24825283 [GRCh38]
Chr6:24825511 [GRCh37]
Chr6:6p22.3
benign
NM_001286445.3(RIPOR2):c.2937T>C (p.Ala979=) single nucleotide variant not provided [RCV002232579]|not specified [RCV000599734] Chr6:24818557 [GRCh38]
Chr6:24818785 [GRCh37]
Chr6:6p22.3
benign
NM_001286445.3(RIPOR2):c.3044-12T>C single nucleotide variant not provided [RCV001672894]|not specified [RCV000605168] Chr6:24806485 [GRCh38]
Chr6:24806713 [GRCh37]
Chr6:6p22.3
benign
NM_001286445.3(RIPOR2):c.1207G>A (p.Glu403Lys) single nucleotide variant not provided [RCV000992747]|not specified [RCV000606505] Chr6:24843512 [GRCh38]
Chr6:24843740 [GRCh37]
Chr6:6p22.3
benign
NM_001286445.3(RIPOR2):c.1773A>C (p.Leu591Phe) single nucleotide variant not provided [RCV000514997]|not specified [RCV000600676] Chr6:24842946 [GRCh38]
Chr6:24843174 [GRCh37]
Chr6:6p22.3
benign|likely benign
NM_001286445.3(RIPOR2):c.2581G>A (p.Val861Ile) single nucleotide variant not provided [RCV000712928]|not specified [RCV000602108] Chr6:24828221 [GRCh38]
Chr6:24828449 [GRCh37]
Chr6:6p22.3
benign
NM_001286445.3(RIPOR2):c.1045G>A (p.Val349Met) single nucleotide variant not provided [RCV000712929]|not specified [RCV000602422] Chr6:24848144 [GRCh38]
Chr6:24848372 [GRCh37]
Chr6:6p22.3
benign
NM_001286445.3(RIPOR2):c.1716T>C (p.Ser572=) single nucleotide variant not provided [RCV000884597]|not specified [RCV000612277] Chr6:24843003 [GRCh38]
Chr6:24843231 [GRCh37]
Chr6:6p22.3
benign|likely benign
NM_001286445.3(RIPOR2):c.1164+366G>A single nucleotide variant not specified [RCV000615177] Chr6:24847659 [GRCh38]
Chr6:24847887 [GRCh37]
Chr6:6p22.3
likely benign
NM_001286445.3(RIPOR2):c.2507-6G>A single nucleotide variant not provided [RCV000992752]|not specified [RCV000609949] Chr6:24828301 [GRCh38]
Chr6:24828529 [GRCh37]
Chr6:6p22.3
benign
NM_001286445.3(RIPOR2):c.1329G>A (p.Ala443=) single nucleotide variant not provided [RCV001770543]|not specified [RCV000601852] Chr6:24843390 [GRCh38]
Chr6:24843618 [GRCh37]
Chr6:6p22.3
likely benign
NM_001286445.3(RIPOR2):c.*7G>A single nucleotide variant Autosomal recessive nonsyndromic hearing loss 104 [RCV001702528]|not provided [RCV001644705]|not specified [RCV000616142] Chr6:24806366 [GRCh38]
Chr6:24806594 [GRCh37]
Chr6:6p22.3
benign
NM_001286445.3(RIPOR2):c.1072G>T (p.Ala358Ser) single nucleotide variant not provided [RCV000712930]|not specified [RCV000602074] Chr6:24848117 [GRCh38]
Chr6:24848345 [GRCh37]
Chr6:6p22.3
benign
NM_001286445.3(RIPOR2):c.114G>C (p.Ser38=) single nucleotide variant not provided [RCV000950701]|not specified [RCV000613715] Chr6:24875765 [GRCh38]
Chr6:24875993 [GRCh37]
Chr6:6p22.3
benign|likely benign
NM_001286445.3(RIPOR2):c.1164+402C>G single nucleotide variant not provided [RCV000712926]|not specified [RCV000613828] Chr6:24847623 [GRCh38]
Chr6:24847851 [GRCh37]
Chr6:6p22.3
benign
NM_001286445.3(RIPOR2):c.521C>G (p.Ala174Gly) single nucleotide variant not provided [RCV000968460]|not specified [RCV000616960] Chr6:24865431 [GRCh38]
Chr6:24865659 [GRCh37]
Chr6:6p22.3
benign
NM_001286445.3(RIPOR2):c.3043+9T>A single nucleotide variant Autosomal recessive nonsyndromic hearing loss 104 [RCV001703211]|not provided [RCV002233009]|not specified [RCV000611139] Chr6:24809708 [GRCh38]
Chr6:24809936 [GRCh37]
Chr6:6p22.3
benign
NM_001286445.3(RIPOR2):c.2952+9C>T single nucleotide variant not provided [RCV000913649]|not specified [RCV000611485] Chr6:24818533 [GRCh38]
Chr6:24818761 [GRCh37]
Chr6:6p22.3
benign|likely benign
NM_001286445.3(RIPOR2):c.1764T>C (p.Asn588=) single nucleotide variant not provided [RCV000964175]|not specified [RCV000614593] Chr6:24842955 [GRCh38]
Chr6:24843183 [GRCh37]
Chr6:6p22.3
benign|likely benign
NM_001286445.3(RIPOR2):c.2685G>A (p.Leu895=) single nucleotide variant not provided [RCV001718968] Chr6:24825409 [GRCh38]
Chr6:24825637 [GRCh37]
Chr6:6p22.3
likely benign
NM_001286445.3(RIPOR2):c.1420G>A (p.Glu474Lys) single nucleotide variant not provided [RCV000961689]|not specified [RCV000604936] Chr6:24843299 [GRCh38]
Chr6:24843527 [GRCh37]
Chr6:6p22.3
benign
NM_001286445.3(RIPOR2):c.715+8T>C single nucleotide variant not provided [RCV001697552]|not specified [RCV000605832] Chr6:24860965 [GRCh38]
Chr6:24861193 [GRCh37]
Chr6:6p22.3
benign|likely benign
NM_001286445.3(RIPOR2):c.1292C>G (p.Ser431Cys) single nucleotide variant not provided [RCV000992748]|not specified [RCV000600536] Chr6:24843427 [GRCh38]
Chr6:24843655 [GRCh37]
Chr6:6p22.3
benign
NM_001286445.3(RIPOR2):c.1767G>C (p.Gly589=) single nucleotide variant not specified [RCV000606144] Chr6:24842952 [GRCh38]
Chr6:24843180 [GRCh37]
Chr6:6p22.3
likely benign
NM_001286445.3(RIPOR2):c.1858-1486C>T single nucleotide variant not provided [RCV000712927] Chr6:24840758 [GRCh38]
Chr6:24840986 [GRCh37]
Chr6:6p22.3
benign
GRCh37/hg19 6p25.3-q27(chr6:108666-170980171)x3 copy number gain not provided [RCV000745403] Chr6:108666..170980171 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6p25.3-q27(chr6:60107-171054786)x3 copy number gain not provided [RCV000745400] Chr6:60107..171054786 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6p25.3-q27(chr6:165632-170919470)x3 copy number gain not provided [RCV000745404] Chr6:165632..170919470 [GRCh37]
Chr6:6p25.3-q27
pathogenic
NM_001286445.3(RIPOR2):c.1165-190AC[21] microsatellite not provided [RCV001644437] Chr6:24843699..24843702 [GRCh38]
Chr6:24843927..24843930 [GRCh37]
Chr6:6p22.3
benign
NM_001286445.3(RIPOR2):c.189-295T>C single nucleotide variant not provided [RCV001611628] Chr6:24874094 [GRCh38]
Chr6:24874322 [GRCh37]
Chr6:6p22.3
benign
NM_001286445.3(RIPOR2):c.1858-1422G>T single nucleotide variant not provided [RCV001287901] Chr6:24840694 [GRCh38]
Chr6:24840922 [GRCh37]
Chr6:6p22.3
uncertain significance
NM_001286445.3(RIPOR2):c.3044-76A>T single nucleotide variant not provided [RCV001667988] Chr6:24806549 [GRCh38]
Chr6:24806777 [GRCh37]
Chr6:6p22.3
benign
NM_001286446.3(RIPOR2):c.76+88T>C single nucleotide variant not provided [RCV001693435] Chr6:25041763 [GRCh38]
Chr6:25041991 [GRCh37]
Chr6:6p22.3
benign
NM_001286445.3(RIPOR2):c.651+201C>T single nucleotide variant not provided [RCV001641436] Chr6:24865100 [GRCh38]
Chr6:24865328 [GRCh37]
Chr6:6p22.3
benign
NM_001286445.3(RIPOR2):c.2952+11G>T single nucleotide variant not provided [RCV001708029] Chr6:24818531 [GRCh38]
Chr6:24818759 [GRCh37]
Chr6:6p22.3
benign
NM_001286446.3(RIPOR2):c.77-60347C>T single nucleotide variant not provided [RCV001667888] Chr6:24936164 [GRCh38]
Chr6:24936392 [GRCh37]
Chr6:6p22.3
benign
NM_001286445.3(RIPOR2):c.323G>C (p.Arg108Thr) single nucleotide variant not provided [RCV000992751] Chr6:24873665 [GRCh38]
Chr6:24873893 [GRCh37]
Chr6:6p22.3
uncertain significance
Single allele single nucleotide variant not provided [RCV001690157] Chr6:25042497 [GRCh38]
Chr6:25042725 [GRCh37]
Chr6:6p22.3
benign
NM_001286445.3(RIPOR2):c.2811= (p.Ser937=) variation not provided [RCV000946922] Chr6:24825283 [GRCh38]
Chr6:24825511 [GRCh37]
Chr6:6p22.3
benign
NM_001286445.3(RIPOR2):c.2592C>T (p.Phe864=) single nucleotide variant not provided [RCV001287902] Chr6:24828210 [GRCh38]
Chr6:24828438 [GRCh37]
Chr6:6p22.3
likely benign
NM_001286445.3(RIPOR2):c.2430G>A (p.Ala810=) single nucleotide variant not provided [RCV001772147]|not specified [RCV000825226] Chr6:24830585 [GRCh38]
Chr6:24830813 [GRCh37]
Chr6:6p22.3
likely benign
NM_001286445.3(RIPOR2):c.2507-7C>T single nucleotide variant not provided [RCV000902101] Chr6:24828302 [GRCh38]
Chr6:24828530 [GRCh37]
Chr6:6p22.3
benign|likely benign
NM_001286445.3(RIPOR2):c.1757C>T (p.Ala586Val) single nucleotide variant not provided [RCV000992750] Chr6:24842962 [GRCh38]
Chr6:24843190 [GRCh37]
Chr6:6p22.3
benign|likely benign
NM_001286445.3(RIPOR2):c.1850T>G (p.Ile617Ser) single nucleotide variant not provided [RCV000888595]|not specified [RCV000825685] Chr6:24842869 [GRCh38]
Chr6:24843097 [GRCh37]
Chr6:6p22.3
benign
NM_001286445.3(RIPOR2):c.2284A>G (p.Met762Val) single nucleotide variant not specified [RCV000825228] Chr6:24832316 [GRCh38]
Chr6:24832544 [GRCh37]
Chr6:6p22.3
likely benign
NM_001286445.3(RIPOR2):c.2579T>C (p.Val860Ala) single nucleotide variant not specified [RCV000826033] Chr6:24828223 [GRCh38]
Chr6:24828451 [GRCh37]
Chr6:6p22.3
uncertain significance
NM_001286445.3(RIPOR2):c.1130C>T (p.Pro377Leu) single nucleotide variant not provided [RCV001759631]|not specified [RCV000826034] Chr6:24848059 [GRCh38]
Chr6:24848287 [GRCh37]
Chr6:6p22.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001286445.3(RIPOR2):c.965G>A (p.Arg322Gln) single nucleotide variant not provided [RCV002235476]|not specified [RCV000826032] Chr6:24849871 [GRCh38]
Chr6:24850099 [GRCh37]
Chr6:6p22.3
uncertain significance
NM_001286445.3(RIPOR2):c.1397G>A (p.Arg466Lys) single nucleotide variant not provided [RCV000884599]|not specified [RCV000825687] Chr6:24843322 [GRCh38]
Chr6:24843550 [GRCh37]
Chr6:6p22.3
benign
NM_001286445.3(RIPOR2):c.885+73G>A single nucleotide variant not provided [RCV000843130] Chr6:24850524 [GRCh38]
Chr6:24850752 [GRCh37]
Chr6:6p22.3
likely benign
NM_001286445.3(RIPOR2):c.2506+57G>C single nucleotide variant not provided [RCV000843131] Chr6:24830452 [GRCh38]
Chr6:24830680 [GRCh37]
Chr6:6p22.3
benign
NM_001286445.3(RIPOR2):c.375G>T (p.Leu125=) single nucleotide variant not specified [RCV000825227] Chr6:24872929 [GRCh38]
Chr6:24873157 [GRCh37]
Chr6:6p22.3
likely benign
NM_001286445.3(RIPOR2):c.447+63G>A single nucleotide variant not provided [RCV000842931] Chr6:24870803 [GRCh38]
Chr6:24871031 [GRCh37]
Chr6:6p22.3
benign
NM_001286445.3(RIPOR2):c.2345-78G>A single nucleotide variant not provided [RCV000842932] Chr6:24830748 [GRCh38]
Chr6:24830976 [GRCh37]
Chr6:6p22.3
benign
NM_001286445.3(RIPOR2):c.188+28A>T single nucleotide variant not provided [RCV000843287] Chr6:24875663 [GRCh38]
Chr6:24875891 [GRCh37]
Chr6:6p22.3
benign
NM_001286445.3(RIPOR2):c.447+100C>T single nucleotide variant not provided [RCV000843288] Chr6:24870766 [GRCh38]
Chr6:24870994 [GRCh37]
Chr6:6p22.3
benign
NM_001286445.3(RIPOR2):c.2345-93A>G single nucleotide variant not provided [RCV000843420] Chr6:24830763 [GRCh38]
Chr6:24830991 [GRCh37]
Chr6:6p22.3
benign
NM_001286445.3(RIPOR2):c.368C>A (p.Thr123Lys) single nucleotide variant not provided [RCV000964176]|not specified [RCV000825229] Chr6:24872936 [GRCh38]
Chr6:24873164 [GRCh37]
Chr6:6p22.3
benign|likely benign
NM_001286445.3(RIPOR2):c.1452A>G (p.Pro484=) single nucleotide variant not provided [RCV000884598]|not specified [RCV000825686] Chr6:24843267 [GRCh38]
Chr6:24843495 [GRCh37]
Chr6:6p22.3
benign
NM_001286445.3(RIPOR2):c.447+62C>T single nucleotide variant not provided [RCV000842624] Chr6:24870804 [GRCh38]
Chr6:24871032 [GRCh37]
Chr6:6p22.3
benign
NM_001286445.3(RIPOR2):c.759+52G>T single nucleotide variant not provided [RCV000842625] Chr6:24852523 [GRCh38]
Chr6:24852751 [GRCh37]
Chr6:6p22.3
benign
NM_001286446.3(RIPOR2):c.43T>C (p.Trp15Arg) single nucleotide variant not provided [RCV000992754] Chr6:25041884 [GRCh38]
Chr6:25042112 [GRCh37]
Chr6:6p22.3
benign
NM_001286445.3(RIPOR2):c.105G>A (p.Gln35=) single nucleotide variant not specified [RCV001195208] Chr6:24875774 [GRCh38]
Chr6:24876002 [GRCh37]
Chr6:6p22.3
likely benign
GRCh37/hg19 6p22.3(chr6:24497678-25168510)x3 copy number gain not provided [RCV001005787] Chr6:24497678..25168510 [GRCh37]
Chr6:6p22.3
uncertain significance
NM_001286445.3(RIPOR2):c.188+293G>T single nucleotide variant not provided [RCV001720873] Chr6:24875398 [GRCh38]
Chr6:24875626 [GRCh37]
Chr6:6p22.3
benign
NM_001286445.3(RIPOR2):c.2345-124C>G single nucleotide variant not provided [RCV001720874] Chr6:24830794 [GRCh38]
Chr6:24831022 [GRCh37]
Chr6:6p22.3
benign
NM_001286445.3(RIPOR2):c.2039+157G>A single nucleotide variant not provided [RCV001720893] Chr6:24838934 [GRCh38]
Chr6:24839162 [GRCh37]
Chr6:6p22.3
benign
NM_001286445.3(RIPOR2):c.652-220C>T single nucleotide variant not provided [RCV001615505] Chr6:24861256 [GRCh38]
Chr6:24861484 [GRCh37]
Chr6:6p22.3
benign
NM_001286445.3(RIPOR2):c.2209-94G>C single nucleotide variant not provided [RCV001695585] Chr6:24832485 [GRCh38]
Chr6:24832713 [GRCh37]
Chr6:6p22.3
benign
NM_001286445.3(RIPOR2):c.2209-265A>G single nucleotide variant not provided [RCV001638884] Chr6:24832656 [GRCh38]
Chr6:24832884 [GRCh37]
Chr6:6p22.3
benign
NM_001286445.3(RIPOR2):c.62-245T>C single nucleotide variant not provided [RCV001687139] Chr6:24876062 [GRCh38]
Chr6:24876290 [GRCh37]
Chr6:6p22.3
benign
NM_001286445.3(RIPOR2):c.2040-62G>T single nucleotide variant not provided [RCV001666991] Chr6:24835933 [GRCh38]
Chr6:24836161 [GRCh37]
Chr6:6p22.3
benign
NM_001286445.3(RIPOR2):c.188+89T>C single nucleotide variant not provided [RCV001639445] Chr6:24875602 [GRCh38]
Chr6:24875830 [GRCh37]
Chr6:6p22.3
benign
NM_001286445.3(RIPOR2):c.2344+222C>T single nucleotide variant not provided [RCV001649299] Chr6:24832034 [GRCh38]
Chr6:24832262 [GRCh37]
Chr6:6p22.3
benign
NM_001286445.3(RIPOR2):c.448-171_448-170del deletion not provided [RCV001682188] Chr6:24869317..24869318 [GRCh38]
Chr6:24869545..24869546 [GRCh37]
Chr6:6p22.3
benign
NM_001286446.3(RIPOR2):c.-133dup duplication not provided [RCV001639858] Chr6:25042058..25042059 [GRCh38]
Chr6:25042286..25042287 [GRCh37]
Chr6:6p22.3
benign
NM_001286446.3(RIPOR2):c.-133del deletion not provided [RCV001667510] Chr6:25042059 [GRCh38]
Chr6:25042287 [GRCh37]
Chr6:6p22.3
benign
NM_001286445.3(RIPOR2):c.188+105_188+106insC insertion not provided [RCV001530612] Chr6:24875585..24875586 [GRCh38]
Chr6:24875813..24875814 [GRCh37]
Chr6:6p22.3
benign
NM_001286445.3(RIPOR2):c.1858-1720C>T single nucleotide variant not provided [RCV001676637] Chr6:24840992 [GRCh38]
Chr6:24841220 [GRCh37]
Chr6:6p22.3
benign
NM_001286445.3(RIPOR2):c.62-215A>G single nucleotide variant not provided [RCV001620776] Chr6:24876032 [GRCh38]
Chr6:24876260 [GRCh37]
Chr6:6p22.3
benign
NM_001286445.3(RIPOR2):c.3043+71T>G single nucleotide variant not provided [RCV001614186] Chr6:24809646 [GRCh38]
Chr6:24809874 [GRCh37]
Chr6:6p22.3
benign
NM_001286445.3(RIPOR2):c.1164+368G>A single nucleotide variant not provided [RCV001684121] Chr6:24847657 [GRCh38]
Chr6:24847885 [GRCh37]
Chr6:6p22.3
benign
NM_001286445.3(RIPOR2):c.3043+174T>C single nucleotide variant not provided [RCV001540237] Chr6:24809543 [GRCh38]
Chr6:24809771 [GRCh37]
Chr6:6p22.3
benign
NM_001286445.3(RIPOR2):c.2802C>T (p.Asn934=) single nucleotide variant not provided [RCV000946923] Chr6:24825292 [GRCh38]
Chr6:24825520 [GRCh37]
Chr6:6p22.3
benign|likely benign
NM_001286445.3(RIPOR2):c.1164+500C>T single nucleotide variant not provided [RCV001766096] Chr6:24847525 [GRCh38]
Chr6:24847753 [GRCh37]
Chr6:6p22.3
benign|likely benign
NM_001286445.3(RIPOR2):c.2049G>A (p.Ser683=) single nucleotide variant not provided [RCV000957866] Chr6:24835862 [GRCh38]
Chr6:24836090 [GRCh37]
Chr6:6p22.3
likely benign
NM_001286445.3(RIPOR2):c.651+205A>G single nucleotide variant not provided [RCV001597637] Chr6:24865096 [GRCh38]
Chr6:24865324 [GRCh37]
Chr6:6p22.3
benign
NM_001286445.3(RIPOR2):c.885+198G>A single nucleotide variant not provided [RCV001677779] Chr6:24850399 [GRCh38]
Chr6:24850627 [GRCh37]
Chr6:6p22.3
benign
NM_001286445.3(RIPOR2):c.1165-190AC[22] microsatellite not provided [RCV001643604] Chr6:24843699..24843700 [GRCh38]
Chr6:24843927..24843928 [GRCh37]
Chr6:6p22.3
benign
NM_001286445.3(RIPOR2):c.2869-166C>T single nucleotide variant not provided [RCV001663000] Chr6:24818791 [GRCh38]
Chr6:24819019 [GRCh37]
Chr6:6p22.3
benign
NM_001286445.3(RIPOR2):c.3044-222T>G single nucleotide variant not provided [RCV001678263] Chr6:24806695 [GRCh38]
Chr6:24806923 [GRCh37]
Chr6:6p22.3
benign
NM_001286445.3(RIPOR2):c.2344+234C>A single nucleotide variant not provided [RCV001720899] Chr6:24832022 [GRCh38]
Chr6:24832250 [GRCh37]
Chr6:6p22.3
benign
NM_001286445.3(RIPOR2):c.345-127G>A single nucleotide variant not provided [RCV001655058] Chr6:24873086 [GRCh38]
Chr6:24873314 [GRCh37]
Chr6:6p22.3
benign
NM_001286445.3(RIPOR2):c.886-163_886-162dup duplication not provided [RCV001539121] Chr6:24850097..24850098 [GRCh38]
Chr6:24850325..24850326 [GRCh37]
Chr6:6p22.3
benign
NM_001286445.3(RIPOR2):c.2953-266A>T single nucleotide variant not provided [RCV001539423] Chr6:24810073 [GRCh38]
Chr6:24810301 [GRCh37]
Chr6:6p22.3
benign
NM_001286445.3(RIPOR2):c.423+211A>G single nucleotide variant not provided [RCV001597918] Chr6:24872670 [GRCh38]
Chr6:24872898 [GRCh37]
Chr6:6p22.3
benign
NM_001286445.3(RIPOR2):c.3043+64A>T single nucleotide variant not provided [RCV001596257] Chr6:24809653 [GRCh38]
Chr6:24809881 [GRCh37]
Chr6:6p22.3
benign
NM_001286445.3(RIPOR2):c.2039+239G>A single nucleotide variant not provided [RCV001688587] Chr6:24838852 [GRCh38]
Chr6:24839080 [GRCh37]
Chr6:6p22.3
benign
NM_001286445.3(RIPOR2):c.651+193G>T single nucleotide variant not provided [RCV001677696] Chr6:24865108 [GRCh38]
Chr6:24865336 [GRCh37]
Chr6:6p22.3
benign
NM_001286445.3(RIPOR2):c.886-163dup duplication not provided [RCV001698865] Chr6:24850097..24850098 [GRCh38]
Chr6:24850325..24850326 [GRCh37]
Chr6:6p22.3
benign
NM_001286445.3(RIPOR2):c.345-264C>A single nucleotide variant not provided [RCV001635633] Chr6:24873223 [GRCh38]
Chr6:24873451 [GRCh37]
Chr6:6p22.3
benign
NM_001286445.3(RIPOR2):c.188+139G>A single nucleotide variant not provided [RCV001658505] Chr6:24875552 [GRCh38]
Chr6:24875780 [GRCh37]
Chr6:6p22.3
benign
NM_001286445.3(RIPOR2):c.1164+167T>C single nucleotide variant not provided [RCV001674074] Chr6:24847858 [GRCh38]
Chr6:24848086 [GRCh37]
Chr6:6p22.3
benign
NM_001286445.3(RIPOR2):c.189-125T>G single nucleotide variant not provided [RCV001687066] Chr6:24873924 [GRCh38]
Chr6:24874152 [GRCh37]
Chr6:6p22.3
benign
NM_001286445.3(RIPOR2):c.3043+92G>A single nucleotide variant not provided [RCV001669941] Chr6:24809625 [GRCh38]
Chr6:24809853 [GRCh37]
Chr6:6p22.3
benign
NM_001286445.3(RIPOR2):c.3044-51T>G single nucleotide variant not provided [RCV001678528] Chr6:24806524 [GRCh38]
Chr6:24806752 [GRCh37]
Chr6:6p22.3
benign
NM_001286445.3(RIPOR2):c.2507-37T>C single nucleotide variant not provided [RCV001650654] Chr6:24828332 [GRCh38]
Chr6:24828560 [GRCh37]
Chr6:6p22.3
benign
NM_001286445.3(RIPOR2):c.*263A>G single nucleotide variant not provided [RCV001649886] Chr6:24806110 [GRCh38]
Chr6:24806338 [GRCh37]
Chr6:6p22.3
benign
NM_001286445.3(RIPOR2):c.2665+244A>G single nucleotide variant not provided [RCV001614246] Chr6:24827893 [GRCh38]
Chr6:24828121 [GRCh37]
Chr6:6p22.3
benign
NM_001286445.3(RIPOR2):c.716-116A>G single nucleotide variant not provided [RCV001640965] Chr6:24852734 [GRCh38]
Chr6:24852962 [GRCh37]
Chr6:6p22.3
benign
NM_001286445.3(RIPOR2):c.1152C>G (p.Asp384Glu) single nucleotide variant not provided [RCV001669086] Chr6:24848037 [GRCh38]
Chr6:24848265 [GRCh37]
Chr6:6p22.3
benign
NM_001286445.3(RIPOR2):c.1165-190AC[24] microsatellite not provided [RCV001648933] Chr6:24843698..24843699 [GRCh38]
Chr6:24843926..24843927 [GRCh37]
Chr6:6p22.3
benign
NM_001286445.3(RIPOR2):c.344+23G>A single nucleotide variant not provided [RCV001610094] Chr6:24873621 [GRCh38]
Chr6:24873849 [GRCh37]
Chr6:6p22.3
benign
NM_001286445.3(RIPOR2):c.1165-190AC[16] microsatellite not provided [RCV001690579] Chr6:24843699..24843712 [GRCh38]
Chr6:24843927..24843940 [GRCh37]
Chr6:6p22.3
benign
NM_001286445.3(RIPOR2):c.3044-39_3044-38insAA insertion not provided [RCV001708197] Chr6:24806511..24806512 [GRCh38]
Chr6:24806739..24806740 [GRCh37]
Chr6:6p22.3
benign
NM_001286445.3(RIPOR2):c.2507-63AATG[4] microsatellite not provided [RCV001696406] Chr6:24828339..24828342 [GRCh38]
Chr6:24828567..24828570 [GRCh37]
Chr6:6p22.3
benign
NM_001286445.3(RIPOR2):c.2507-63AATG[6] microsatellite not provided [RCV001694966] Chr6:24828338..24828339 [GRCh38]
Chr6:24828566..24828567 [GRCh37]
Chr6:6p22.3
benign
NM_001286445.3(RIPOR2):c.188+105G>C single nucleotide variant not provided [RCV001713640] Chr6:24875586 [GRCh38]
Chr6:24875814 [GRCh37]
Chr6:6p22.3
benign
NM_001286445.3(RIPOR2):c.1164+38C>T single nucleotide variant not provided [RCV001766065] Chr6:24847987 [GRCh38]
Chr6:24848215 [GRCh37]
Chr6:6p22.3
likely benign
NM_001286445.3(RIPOR2):c.2506+56G>A single nucleotide variant not provided [RCV001766068] Chr6:24830453 [GRCh38]
Chr6:24830681 [GRCh37]
Chr6:6p22.3
likely benign
NM_001286446.3(RIPOR2):c.-11C>T single nucleotide variant not provided [RCV001799872] Chr6:25041937 [GRCh38]
Chr6:25042165 [GRCh37]
Chr6:6p22.3
likely benign
NM_001286445.3(RIPOR2):c.447+73G>T single nucleotide variant not provided [RCV001609012] Chr6:24870793 [GRCh38]
Chr6:24871021 [GRCh37]
Chr6:6p22.3
benign
NM_001286445.3(RIPOR2):c.448-172_448-170del deletion not provided [RCV001715043] Chr6:24869317..24869319 [GRCh38]
Chr6:24869545..24869547 [GRCh37]
Chr6:6p22.3
benign
NM_001286445.3(RIPOR2):c.2208+231T>C single nucleotide variant not provided [RCV001675347] Chr6:24835472 [GRCh38]
Chr6:24835700 [GRCh37]
Chr6:6p22.3
benign
NM_001286445.3(RIPOR2):c.2039+159A>C single nucleotide variant not provided [RCV001707096] Chr6:24838932 [GRCh38]
Chr6:24839160 [GRCh37]
Chr6:6p22.3
benign
NM_001286445.3(RIPOR2):c.2208+46A>C single nucleotide variant not provided [RCV001695293] Chr6:24835657 [GRCh38]
Chr6:24835885 [GRCh37]
Chr6:6p22.3
benign
NM_001286445.3(RIPOR2):c.2209-178T>C single nucleotide variant not provided [RCV001686866] Chr6:24832569 [GRCh38]
Chr6:24832797 [GRCh37]
Chr6:6p22.3
benign
NM_001286445.3(RIPOR2):c.424-240A>G single nucleotide variant not provided [RCV001693762] Chr6:24871129 [GRCh38]
Chr6:24871357 [GRCh37]
Chr6:6p22.3
benign
NM_001286445.3(RIPOR2):c.1858-246C>T single nucleotide variant not provided [RCV001651600] Chr6:24839518 [GRCh38]
Chr6:24839746 [GRCh37]
Chr6:6p22.3
benign
NM_001286445.3(RIPOR2):c.2953-267G>T single nucleotide variant not provided [RCV001696003] Chr6:24810074 [GRCh38]
Chr6:24810302 [GRCh37]
Chr6:6p22.3
benign
NM_001286445.3(RIPOR2):c.501+22A>G single nucleotide variant not provided [RCV001691627] Chr6:24869072 [GRCh38]
Chr6:24869300 [GRCh37]
Chr6:6p22.3
benign
NM_001286445.3(RIPOR2):c.1858-96dup duplication not provided [RCV001617542] Chr6:24839358..24839359 [GRCh38]
Chr6:24839586..24839587 [GRCh37]
Chr6:6p22.3
benign
NM_001286445.3(RIPOR2):c.1034+83G>A single nucleotide variant not provided [RCV001609552] Chr6:24849719 [GRCh38]
Chr6:24849947 [GRCh37]
Chr6:6p22.3
benign
NM_001286445.3(RIPOR2):c.886-212A>T single nucleotide variant not provided [RCV001694725] Chr6:24850162 [GRCh38]
Chr6:24850390 [GRCh37]
Chr6:6p22.3
benign
NM_001286445.3(RIPOR2):c.651+206T>C single nucleotide variant not provided [RCV001711016] Chr6:24865095 [GRCh38]
Chr6:24865323 [GRCh37]
Chr6:6p22.3
benign
NM_001286445.3(RIPOR2):c.189-128T>C single nucleotide variant not provided [RCV001654201] Chr6:24873927 [GRCh38]
Chr6:24874155 [GRCh37]
Chr6:6p22.3
benign
NM_001286445.3(RIPOR2):c.1858-485C>T single nucleotide variant not provided [RCV001694944] Chr6:24839757 [GRCh38]
Chr6:24839985 [GRCh37]
Chr6:6p22.3
benign
NM_001286445.3(RIPOR2):c.448-170del deletion not provided [RCV001652725] Chr6:24869317 [GRCh38]
Chr6:24869545 [GRCh37]
Chr6:6p22.3
benign
NM_001286445.3(RIPOR2):c.2665+47G>A single nucleotide variant not provided [RCV001687908] Chr6:24828090 [GRCh38]
Chr6:24828318 [GRCh37]
Chr6:6p22.3
benign
NM_001286445.3(RIPOR2):c.759+161del deletion not provided [RCV001616398] Chr6:24852414 [GRCh38]
Chr6:24852642 [GRCh37]
Chr6:6p22.3
benign
NM_001286445.3(RIPOR2):c.885+110T>C single nucleotide variant not provided [RCV001617052] Chr6:24850487 [GRCh38]
Chr6:24850715 [GRCh37]
Chr6:6p22.3
benign
NM_001286445.3(RIPOR2):c.2953-47C>T single nucleotide variant not provided [RCV001714944] Chr6:24809854 [GRCh38]
Chr6:24810082 [GRCh37]
Chr6:6p22.3
benign
NM_001286445.3(RIPOR2):c.423+170C>T single nucleotide variant not provided [RCV001536508] Chr6:24872711 [GRCh38]
Chr6:24872939 [GRCh37]
Chr6:6p22.3
benign
NM_001286445.3(RIPOR2):c.3043+13GTT[2] microsatellite not provided [RCV002238098] Chr6:24809696..24809698 [GRCh38]
Chr6:24809924..24809926 [GRCh37]
Chr6:6p22.3
likely benign
NM_001286445.3(RIPOR2):c.2822C>T (p.Thr941Met) single nucleotide variant not provided [RCV002238101] Chr6:24825272 [GRCh38]
Chr6:24825500 [GRCh37]
Chr6:6p22.3
uncertain significance
NM_001286445.3(RIPOR2):c.2573C>T (p.Ser858Leu) single nucleotide variant not provided [RCV002238102] Chr6:24828229 [GRCh38]
Chr6:24828457 [GRCh37]
Chr6:6p22.3
uncertain significance
NM_001286445.3(RIPOR2):c.2507-10T>C single nucleotide variant not provided [RCV002238103] Chr6:24828305 [GRCh38]
Chr6:24828533 [GRCh37]
Chr6:6p22.3
likely benign
NM_001286445.3(RIPOR2):c.2226C>A (p.Ser742Arg) single nucleotide variant not provided [RCV002238107] Chr6:24832374 [GRCh38]
Chr6:24832602 [GRCh37]
Chr6:6p22.3
uncertain significance
NM_001286445.3(RIPOR2):c.2202C>T (p.Leu734=) single nucleotide variant not provided [RCV002238108] Chr6:24835709 [GRCh38]
Chr6:24835937 [GRCh37]
Chr6:6p22.3
likely benign
NM_001286445.3(RIPOR2):c.2191T>C (p.Cys731Arg) single nucleotide variant not provided [RCV002238109] Chr6:24835720 [GRCh38]
Chr6:24835948 [GRCh37]
Chr6:6p22.3
uncertain significance
NM_001286445.3(RIPOR2):c.1688T>A (p.Leu563His) single nucleotide variant not provided [RCV002238112] Chr6:24843031 [GRCh38]
Chr6:24843259 [GRCh37]
Chr6:6p22.3
uncertain significance
NM_001286445.3(RIPOR2):c.1680C>T (p.Asp560=) single nucleotide variant not provided [RCV002238113] Chr6:24843039 [GRCh38]
Chr6:24843267 [GRCh37]
Chr6:6p22.3
likely benign
NM_001286445.3(RIPOR2):c.1164+349T>G single nucleotide variant not provided [RCV002238117] Chr6:24847676 [GRCh38]
Chr6:24847904 [GRCh37]
Chr6:6p22.3
uncertain significance
NM_001286445.3(RIPOR2):c.1164+345del deletion not provided [RCV002238118] Chr6:24847680 [GRCh38]
Chr6:24847908 [GRCh37]
Chr6:6p22.3
uncertain significance
NM_001286445.3(RIPOR2):c.1164+17T>G single nucleotide variant not provided [RCV002238120] Chr6:24848008 [GRCh38]
Chr6:24848236 [GRCh37]
Chr6:6p22.3
likely benign
NM_001286445.3(RIPOR2):c.1142C>G (p.Thr381Ser) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 21 [RCV002481043]|not provided [RCV002238121] Chr6:24848047 [GRCh38]
Chr6:24848275 [GRCh37]
Chr6:6p22.3
uncertain significance
NM_001286445.3(RIPOR2):c.1088C>T (p.Ala363Val) single nucleotide variant not provided [RCV002238122] Chr6:24848101 [GRCh38]
Chr6:24848329 [GRCh37]
Chr6:6p22.3
uncertain significance
NM_001286445.3(RIPOR2):c.992A>G (p.Asn331Ser) single nucleotide variant not provided [RCV002238123] Chr6:24849844 [GRCh38]
Chr6:24850072 [GRCh37]
Chr6:6p22.3
uncertain significance
NM_001286445.3(RIPOR2):c.984C>T (p.Val328=) single nucleotide variant not provided [RCV002238124] Chr6:24849852 [GRCh38]
Chr6:24850080 [GRCh37]
Chr6:6p22.3
likely benign
NM_001286445.3(RIPOR2):c.472A>G (p.Met158Val) single nucleotide variant not provided [RCV002238125] Chr6:24869123 [GRCh38]
Chr6:24869351 [GRCh37]
Chr6:6p22.3
uncertain significance
NM_001286445.3(RIPOR2):c.345-9T>C single nucleotide variant not provided [RCV002238127] Chr6:24872968 [GRCh38]
Chr6:24873196 [GRCh37]
Chr6:6p22.3
likely benign
NM_001286445.3(RIPOR2):c.276C>T (p.Asn92=) single nucleotide variant not provided [RCV002238129] Chr6:24873712 [GRCh38]
Chr6:24873940 [GRCh37]
Chr6:6p22.3
likely benign
NM_001286445.3(RIPOR2):c.201_202insTGGATGCCCAATCCAAATCCTTTTGGATGCCCAATCCTCACAATTTCTTCTGTTCTTTCCATAGGTGTAACTCCATAGGA (p.Ile68delinsTrpMetProAsnProAsnProPheGlyCysProIleLeuThrIleSerSerValLeuSerIleGlyValThrProTer) insertion not provided [RCV002238130] Chr6:24873786..24873787 [GRCh38]
Chr6:24874014..24874015 [GRCh37]
Chr6:6p22.3
uncertain significance
NM_001286445.3(RIPOR2):c.201C>T (p.Phe67=) single nucleotide variant not provided [RCV002238131] Chr6:24873787 [GRCh38]
Chr6:24874015 [GRCh37]
Chr6:6p22.3
likely benign
NM_001286445.3(RIPOR2):c.874A>G (p.Ile292Val) single nucleotide variant not provided [RCV002236548] Chr6:24850608 [GRCh38]
Chr6:24850836 [GRCh37]
Chr6:6p22.3
uncertain significance
NM_001286445.3(RIPOR2):c.3056G>A (p.Arg1019Gln) single nucleotide variant not provided [RCV002238097] Chr6:24806461 [GRCh38]
Chr6:24806689 [GRCh37]
Chr6:6p22.3
uncertain significance
NM_001286445.3(RIPOR2):c.2868+19G>A single nucleotide variant not provided [RCV002238099] Chr6:24825207 [GRCh38]
Chr6:24825435 [GRCh37]
Chr6:6p22.3
likely benign
NM_001286445.3(RIPOR2):c.2828A>G (p.Tyr943Cys) single nucleotide variant not provided [RCV002238100] Chr6:24825266 [GRCh38]
Chr6:24825494 [GRCh37]
Chr6:6p22.3
uncertain significance
NM_001286445.3(RIPOR2):c.2470A>T (p.Thr824Ser) single nucleotide variant not provided [RCV002238104] Chr6:24830545 [GRCh38]
Chr6:24830773 [GRCh37]
Chr6:6p22.3
uncertain significance
NM_001286445.3(RIPOR2):c.2449C>T (p.Leu817=) single nucleotide variant not provided [RCV002238105] Chr6:24830566 [GRCh38]
Chr6:24830794 [GRCh37]
Chr6:6p22.3
likely benign
NM_001286445.3(RIPOR2):c.2394G>C (p.Lys798Asn) single nucleotide variant not provided [RCV002238106] Chr6:24830621 [GRCh38]
Chr6:24830849 [GRCh37]
Chr6:6p22.3
uncertain significance
NM_001286445.3(RIPOR2):c.1847A>G (p.Asp616Gly) single nucleotide variant not provided [RCV002238110] Chr6:24842872 [GRCh38]
Chr6:24843100 [GRCh37]
Chr6:6p22.3
uncertain significance
NM_001286445.3(RIPOR2):c.1821G>A (p.Leu607=) single nucleotide variant not provided [RCV002238111] Chr6:24842898 [GRCh38]
Chr6:24843126 [GRCh37]
Chr6:6p22.3
likely benign
NM_001286445.3(RIPOR2):c.1620A>T (p.Gly540=) single nucleotide variant not provided [RCV002238114] Chr6:24843099 [GRCh38]
Chr6:24843327 [GRCh37]
Chr6:6p22.3
uncertain significance
NM_001286445.3(RIPOR2):c.1523A>C (p.Glu508Ala) single nucleotide variant not provided [RCV002238115] Chr6:24843196 [GRCh38]
Chr6:24843424 [GRCh37]
Chr6:6p22.3
uncertain significance
NM_001286445.3(RIPOR2):c.1164+370C>T single nucleotide variant not provided [RCV002238116] Chr6:24847655 [GRCh38]
Chr6:24847883 [GRCh37]
Chr6:6p22.3
benign
NM_001286445.3(RIPOR2):c.1164+326T>G single nucleotide variant not provided [RCV002238119] Chr6:24847699 [GRCh38]
Chr6:24847927 [GRCh37]
Chr6:6p22.3
likely benign
NM_001286445.3(RIPOR2):c.381G>A (p.Lys127=) single nucleotide variant not provided [RCV002238126] Chr6:24872923 [GRCh38]
Chr6:24873151 [GRCh37]
Chr6:6p22.3
likely benign
NM_001286445.3(RIPOR2):c.345-16T>C single nucleotide variant not provided [RCV002238128] Chr6:24872975 [GRCh38]
Chr6:24873203 [GRCh37]
Chr6:6p22.3
likely benign
NM_001286445.3(RIPOR2):c.150C>G (p.Ser50=) single nucleotide variant not provided [RCV002238132] Chr6:24875729 [GRCh38]
Chr6:24875957 [GRCh37]
Chr6:6p22.3
likely benign
NM_001286445.3(RIPOR2):c.114G>A (p.Ser38=) single nucleotide variant not provided [RCV002238133] Chr6:24875765 [GRCh38]
Chr6:24875993 [GRCh37]
Chr6:6p22.3
likely benign
NM_001286445.3(RIPOR2):c.2345-60AAAAT[4] microsatellite not provided [RCV001769655] Chr6:24830706..24830710 [GRCh38]
Chr6:24830934..24830938 [GRCh37]
Chr6:6p22.3
likely benign
NM_001286445.3(RIPOR2):c.2040-28T>C single nucleotide variant not provided [RCV001753095] Chr6:24835899 [GRCh38]
Chr6:24836127 [GRCh37]
Chr6:6p22.3
likely benign
NM_001286445.3(RIPOR2):c.2344+16T>C single nucleotide variant not provided [RCV001757644] Chr6:24832240 [GRCh38]
Chr6:24832468 [GRCh37]
Chr6:6p22.3
likely benign
NM_001286446.3(RIPOR2):c.-109dup duplication not provided [RCV001758872] Chr6:25042034..25042035 [GRCh38]
Chr6:25042262..25042263 [GRCh37]
Chr6:6p22.3
likely benign
NM_001286445.3(RIPOR2):c.1692T>G (p.Ser564=) single nucleotide variant not provided [RCV001769805] Chr6:24843027 [GRCh38]
Chr6:24843255 [GRCh37]
Chr6:6p22.3
benign|likely benign
NM_001286445.3(RIPOR2):c.1035-21T>C single nucleotide variant not provided [RCV001769950] Chr6:24848175 [GRCh38]
Chr6:24848403 [GRCh37]
Chr6:6p22.3
likely benign
NM_001286445.3(RIPOR2):c.424-4G>T single nucleotide variant not provided [RCV001759314] Chr6:24870893 [GRCh38]
Chr6:24871121 [GRCh37]
Chr6:6p22.3
likely benign
NM_001286445.3(RIPOR2):c.1035-24A>T single nucleotide variant not provided [RCV001759369] Chr6:24848178 [GRCh38]
Chr6:24848406 [GRCh37]
Chr6:6p22.3
likely benign
NM_001286445.3(RIPOR2):c.2039+182C>T single nucleotide variant not provided [RCV001759373] Chr6:24838909 [GRCh38]
Chr6:24839137 [GRCh37]
Chr6:6p22.3
likely benign
NM_001286445.3(RIPOR2):c.2580C>T (p.Val860=) single nucleotide variant not provided [RCV001769576] Chr6:24828222 [GRCh38]
Chr6:24828450 [GRCh37]
Chr6:6p22.3
likely benign
NM_001286445.3(RIPOR2):c.2840C>T (p.Ala947Val) single nucleotide variant not provided [RCV001769833] Chr6:24825254 [GRCh38]
Chr6:24825482 [GRCh37]
Chr6:6p22.3
likely benign
NM_001286445.3(RIPOR2):c.1858-366dup duplication not provided [RCV001768182] Chr6:24839637..24839638 [GRCh38]
Chr6:24839865..24839866 [GRCh37]
Chr6:6p22.3
likely benign
NM_001286445.3(RIPOR2):c.886-148del deletion not provided [RCV001753153] Chr6:24850098 [GRCh38]
Chr6:24850326 [GRCh37]
Chr6:6p22.3
likely benign
NM_001286445.3(RIPOR2):c.1164+168G>A single nucleotide variant not provided [RCV001769735] Chr6:24847857 [GRCh38]
Chr6:24848085 [GRCh37]
Chr6:6p22.3
likely benign
NM_001286445.3(RIPOR2):c.2665+32G>A single nucleotide variant not provided [RCV001769753] Chr6:24828105 [GRCh38]
Chr6:24828333 [GRCh37]
Chr6:6p22.3
likely benign
NM_001286445.3(RIPOR2):c.2040-274C>A single nucleotide variant not provided [RCV001769803] Chr6:24836145 [GRCh38]
Chr6:24836373 [GRCh37]
Chr6:6p22.3
likely benign
NM_001286445.3(RIPOR2):c.1164+27G>C single nucleotide variant not provided [RCV001768152] Chr6:24847998 [GRCh38]
Chr6:24848226 [GRCh37]
Chr6:6p22.3
likely benign
NM_001286445.3(RIPOR2):c.715+63A>G single nucleotide variant not provided [RCV001769890] Chr6:24860910 [GRCh38]
Chr6:24861138 [GRCh37]
Chr6:6p22.3
likely benign
NM_001286445.3(RIPOR2):c.886-155_886-148del deletion not provided [RCV001757668] Chr6:24850098..24850105 [GRCh38]
Chr6:24850326..24850333 [GRCh37]
Chr6:6p22.3
likely benign
NM_001286445.3(RIPOR2):c.1858-1454C>T single nucleotide variant not provided [RCV001757676] Chr6:24840726 [GRCh38]
Chr6:24840954 [GRCh37]
Chr6:6p22.3
likely benign
NM_001286445.3(RIPOR2):c.2620G>A (p.Gly874Ser) single nucleotide variant not provided [RCV001758958] Chr6:24828182 [GRCh38]
Chr6:24828410 [GRCh37]
Chr6:6p22.3
likely benign|conflicting interpretations of pathogenicity
NM_001286445.3(RIPOR2):c.368C>T (p.Thr123Met) single nucleotide variant not provided [RCV001759218] Chr6:24872936 [GRCh38]
Chr6:24873164 [GRCh37]
Chr6:6p22.3
likely benign|conflicting interpretations of pathogenicity
NM_001286445.3(RIPOR2):c.759+33A>G single nucleotide variant not provided [RCV001769935] Chr6:24852542 [GRCh38]
Chr6:24852770 [GRCh37]
Chr6:6p22.3
likely benign
NM_001286445.3(RIPOR2):c.1165-167_1165-144del deletion not provided [RCV001776531] Chr6:24843698..24843721 [GRCh38]
Chr6:24843926..24843949 [GRCh37]
Chr6:6p22.3
likely benign
NM_001286445.3(RIPOR2):c.1858-4A>G single nucleotide variant not provided [RCV001759200] Chr6:24839276 [GRCh38]
Chr6:24839504 [GRCh37]
Chr6:6p22.3
likely benign
NM_001286445.3(RIPOR2):c.188+104dup duplication not provided [RCV001762877] Chr6:24875586..24875587 [GRCh38]
Chr6:24875814..24875815 [GRCh37]
Chr6:6p22.3
benign
NM_001286445.3(RIPOR2):c.2583C>T (p.Val861=) single nucleotide variant not provided [RCV001757614] Chr6:24828219 [GRCh38]
Chr6:24828447 [GRCh37]
Chr6:6p22.3
likely benign
NM_001286445.3(RIPOR2):c.760-334G>A single nucleotide variant not provided [RCV001752990] Chr6:24851056 [GRCh38]
Chr6:24851284 [GRCh37]
Chr6:6p22.3
likely benign
NM_001286445.3(RIPOR2):c.1857+45G>A single nucleotide variant not provided [RCV001767984] Chr6:24842817 [GRCh38]
Chr6:24843045 [GRCh37]
Chr6:6p22.3
likely benign
NM_001286445.3(RIPOR2):c.2869-171C>T single nucleotide variant not provided [RCV001752899] Chr6:24818796 [GRCh38]
Chr6:24819024 [GRCh37]
Chr6:6p22.3
likely benign
NM_001286445.3(RIPOR2):c.760-177dup duplication not provided [RCV001753106] Chr6:24850898..24850899 [GRCh38]
Chr6:24851126..24851127 [GRCh37]
Chr6:6p22.3
likely benign
NM_001286445.3(RIPOR2):c.502-10A>C single nucleotide variant Autosomal dominant nonsyndromic hearing loss 21 [RCV002503249]|not provided [RCV001752875] Chr6:24865460 [GRCh38]
Chr6:24865688 [GRCh37]
Chr6:6p22.3
likely benign
NM_001286445.3(RIPOR2):c.651+30G>A single nucleotide variant not provided [RCV001752995] Chr6:24865271 [GRCh38]
Chr6:24865499 [GRCh37]
Chr6:6p22.3
likely benign
NM_001286445.3(RIPOR2):c.1165-190AC[20] microsatellite not provided [RCV001757598] Chr6:24843699..24843704 [GRCh38]
Chr6:24843927..24843932 [GRCh37]
Chr6:6p22.3
likely benign
NM_001286445.3(RIPOR2):c.1165-190AC[19] microsatellite not provided [RCV001757613] Chr6:24843699..24843706 [GRCh38]
Chr6:24843927..24843934 [GRCh37]
Chr6:6p22.3
likely benign
NM_001286445.3(RIPOR2):c.*326A>G single nucleotide variant not provided [RCV001757674] Chr6:24806047 [GRCh38]
Chr6:24806275 [GRCh37]
Chr6:6p22.3
likely benign
NM_001286445.3(RIPOR2):c.1674C>T (p.Ala558=) single nucleotide variant not provided [RCV001759379] Chr6:24843045 [GRCh38]
Chr6:24843273 [GRCh37]
Chr6:6p22.3
likely benign
NM_001286445.3(RIPOR2):c.3094T>C (p.Cys1032Arg) single nucleotide variant not provided [RCV002236537] Chr6:24806423 [GRCh38]
Chr6:24806651 [GRCh37]
Chr6:6p22.3
uncertain significance
NM_001286445.3(RIPOR2):c.2651A>G (p.Gln884Arg) single nucleotide variant not provided [RCV002236539] Chr6:24828151 [GRCh38]
Chr6:24828379 [GRCh37]
Chr6:6p22.3
uncertain significance
NM_001286445.3(RIPOR2):c.1633_1644del (p.Gln545_Lys548del) deletion Autosomal dominant nonsyndromic hearing loss 21 [RCV002216150]|not provided [RCV002236388] Chr6:24843075..24843086 [GRCh38]
Chr6:24843303..24843314 [GRCh37]
Chr6:6p22.3
pathogenic|uncertain significance
NM_001286445.3(RIPOR2):c.1206C>T (p.Ala402=) single nucleotide variant not provided [RCV002236545] Chr6:24843513 [GRCh38]
Chr6:24843741 [GRCh37]
Chr6:6p22.3
likely benign
NM_001286445.3(RIPOR2):c.2623G>A (p.Val875Ile) single nucleotide variant not provided [RCV002236540] Chr6:24828179 [GRCh38]
Chr6:24828407 [GRCh37]
Chr6:6p22.3
uncertain significance
NM_001286445.3(RIPOR2):c.2145A>G (p.Thr715=) single nucleotide variant not provided [RCV002236541] Chr6:24835766 [GRCh38]
Chr6:24835994 [GRCh37]
Chr6:6p22.3
likely benign
NM_001286445.3(RIPOR2):c.1164+482A>G single nucleotide variant Autosomal dominant nonsyndromic hearing loss 21 [RCV002496170]|not provided [RCV002236546] Chr6:24847543 [GRCh38]
Chr6:24847771 [GRCh37]
Chr6:6p22.3
uncertain significance
NM_001286445.3(RIPOR2):c.2712A>G (p.Leu904=) single nucleotide variant not provided [RCV002236538] Chr6:24825382 [GRCh38]
Chr6:24825610 [GRCh37]
Chr6:6p22.3
likely benign
NM_001286445.3(RIPOR2):c.1988T>C (p.Val663Ala) single nucleotide variant not provided [RCV002236544] Chr6:24839142 [GRCh38]
Chr6:24839370 [GRCh37]
Chr6:6p22.3
uncertain significance
NM_001286445.3(RIPOR2):c.1164+455C>T single nucleotide variant not provided [RCV002236547] Chr6:24847570 [GRCh38]
Chr6:24847798 [GRCh37]
Chr6:6p22.3
uncertain significance
NM_001286445.3(RIPOR2):c.502-16G>C single nucleotide variant not provided [RCV002236550] Chr6:24865466 [GRCh38]
Chr6:24865694 [GRCh37]
Chr6:6p22.3
benign
NM_001286445.3(RIPOR2):c.2040-5A>G single nucleotide variant not provided [RCV002236542] Chr6:24835876 [GRCh38]
Chr6:24836104 [GRCh37]
Chr6:6p22.3
likely benign
NM_001286445.3(RIPOR2):c.779G>A (p.Arg260Gln) single nucleotide variant not provided [RCV002236549] Chr6:24850703 [GRCh38]
Chr6:24850931 [GRCh37]
Chr6:6p22.3
uncertain significance
NM_001286445.3(RIPOR2):c.2006C>T (p.Ser669Leu) single nucleotide variant not provided [RCV002236543] Chr6:24839124 [GRCh38]
Chr6:24839352 [GRCh37]
Chr6:6p22.3
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2191
Count of miRNA genes:1032
Interacting mature miRNAs:1251
Transcripts:ENST00000259698, ENST00000378023, ENST00000463828, ENST00000473070, ENST00000510784, ENST00000538035, ENST00000540914, ENST00000562221
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
D6S1554  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37624,843,852 - 24,844,017UniSTSGRCh37
Build 36624,951,831 - 24,951,996RGDNCBI36
Celera626,071,147 - 26,071,308RGD
Cytogenetic Map6p22.3-p21.32UniSTS
HuRef624,787,215 - 24,787,378UniSTS
Marshfield Genetic Map642.27UniSTS
Marshfield Genetic Map642.27RGD
Genethon Genetic Map642.0UniSTS
TNG Radiation Hybrid Map613603.0UniSTS
deCODE Assembly Map648.86UniSTS
Stanford-G3 RH Map61139.0UniSTS
Whitehead-RH Map6130.4UniSTS
Whitehead-YAC Contig Map6 UniSTS
NCBI RH Map6308.0UniSTS
GeneMap99-G3 RH Map61271.0UniSTS
RH93877  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37624,839,782 - 24,839,944UniSTSGRCh37
Build 36624,947,761 - 24,947,923RGDNCBI36
Celera626,067,078 - 26,067,240RGD
Cytogenetic Map6p22.3-p21.32UniSTS
HuRef624,783,146 - 24,783,308UniSTS
GeneMap99-GB4 RH Map6101.22UniSTS
PMC166143P9  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37624,805,062 - 24,805,178UniSTSGRCh37
Build 36624,913,041 - 24,913,157RGDNCBI36
Celera626,038,434 - 26,038,550RGD
Cytogenetic Map6p22.3-p21.32UniSTS
HuRef624,754,503 - 24,754,619UniSTS
STS-U49187  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37624,839,684 - 24,839,811UniSTSGRCh37
Build 36624,947,663 - 24,947,790RGDNCBI36
Celera626,066,980 - 26,067,107RGD
Cytogenetic Map6p22.3-p21.32UniSTS
HuRef624,783,048 - 24,783,175UniSTS
GeneMap99-GB4 RH Map697.46UniSTS
D6S2235  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37624,836,948 - 24,837,114UniSTSGRCh37
Build 36624,944,927 - 24,945,093RGDNCBI36
Celera626,064,244 - 26,064,410RGD
Cytogenetic Map6p22.3-p21.32UniSTS
HuRef624,780,316 - 24,780,478UniSTS
D1S1423  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map10p12.1-p11.2UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map6p21UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map6p22.3-p21.32UniSTS
Cytogenetic Map6q22.33UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map11q13.2-q13.3UniSTS
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map7q11.2UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map2q32UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map9q12UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map2p12UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map18q22.1UniSTS
Cytogenetic Map13q12UniSTS
Cytogenetic Map10p14-p13UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map11q23-q24UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map22cen-q12.3UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map15q11.2-q21.3UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map7q31.1UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map3q25UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map2q14UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map4q28UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map1q41-q42UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map20q11.21UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map12p13.1-p12.3UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map1p13.1UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map7q33UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map4q23UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map10q26.11UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map11q24.1UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map2q24.3UniSTS
Cytogenetic Map11q23UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map18p11.31-p11.21UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map3q13UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map7p21.2UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map1q42.1UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map1p34-p33UniSTS
Cytogenetic Map3q22.1UniSTS
Cytogenetic Map7p14UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map12q24.2UniSTS
Cytogenetic Map20q13UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map8p23-p22UniSTS
Cytogenetic Map1p12UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map10p12.33UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map3q26UniSTS
Cytogenetic Map9p21.2UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map5q21.3UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map3q26.31UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map5p13.3UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map10q22.1UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic Map20p12.3-p11.21UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic MapXq27.2UniSTS
Cytogenetic Map4q31.1UniSTS
Cytogenetic Map4q31UniSTS
Cytogenetic Map22q13.1-q13.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map10q24.3UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map2p13UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map11q22.1UniSTS
Cytogenetic Map12q14.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map20q11.21-q11.23UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map21p11.1UniSTS
Cytogenetic Map1p35-p34.3UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map12q24.31-q24.32UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map14q32.1UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map4q31.23UniSTS
Cytogenetic Map11p15.3UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map2p22.3UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic MapXq13.2UniSTS
Cytogenetic Map16p13.12UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map9p12UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map15q15.2UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map13q33.3UniSTS
Cytogenetic Map15q22-q24UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map14q21.2UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map4p15.31UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map20q13.1UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map10q23.33UniSTS
Cytogenetic Map4q26UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map15q22.1-q22.31UniSTS
Cytogenetic Map1q31-q41UniSTS
Cytogenetic Map6q23.3UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map14q23UniSTS
Cytogenetic Map12q11-q12UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map4q24UniSTS
Cytogenetic Map1p32UniSTS
Cytogenetic Map3p21.1-p14.2UniSTS
Cytogenetic Map12q22-q23.1UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map6q24.2UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map20q11.22-q11.23UniSTS
Cytogenetic Map3p22.3UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic MapXq13-q21UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map16p13.13UniSTS
Cytogenetic Map10pter-q25.3UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map12q24UniSTS
Cytogenetic Map3q28-q29UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map6p22.2UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map1q32.2-q41UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map22q11UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map16p13.11UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map9p21UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map11q13.1-q13.3UniSTS
Cytogenetic Map16p13UniSTS
Cytogenetic Map15q26UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map4p15.1-p14UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map5q33.2UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map7q32.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map15q25.1UniSTS
Cytogenetic Map9p13UniSTS
Cytogenetic Map2p24.2UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map11q12.2UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map1q25.3UniSTS
Cytogenetic Map6p24-p22.3UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map3q21-q24UniSTS
Cytogenetic Map4q13UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map5q21.2UniSTS
Cytogenetic Map4q34.3UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map13q13.3UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map1q31UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map8q24.12UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map13q11-q12UniSTS
Cytogenetic Map10q24.2UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map6q25.2UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map6q14.1UniSTS
Cytogenetic Map3q23-q24UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map20pter-p12UniSTS
Cytogenetic MapXp22.11UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic Map7q31.3UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic Map8p11UniSTS
Cytogenetic Map7p14.2UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map18p11.22UniSTS
Cytogenetic Map18q21.33UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map14q22.2UniSTS
Cytogenetic Map20p11.22-p11.1UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map2q12.2UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map11q12-q13UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map10p11.21UniSTS
Cytogenetic Map6p22-p21UniSTS
Cytogenetic Map17q21.1-q21.3UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map4p15.32UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map19q12UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map12p13.2-p12.3UniSTS
Cytogenetic Map9q22.32UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map5q22.2UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map4p15.3UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map12q13.1-q13.2UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map1p31UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map9p22.3UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map8q21.11UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map6q22.32UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map5q11.2UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map18q12.2UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map13q33.1UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map16p12.1UniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map5q12.1UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map10q22.3-q23.2UniSTS
Cytogenetic Map7p15UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map11q21UniSTS
Cytogenetic Map4q21.3UniSTS
Cytogenetic Map7p13-p12UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map3q12.1UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map3q13.13-q13.2UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map3q26.32UniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map2p13.2UniSTS
Cytogenetic Map3p12.3UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map3q11.2UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map6q16.2UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map6p24.2UniSTS
Cytogenetic Map20q13.33UniSTS


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 123 817 308 4 1734 4 656 276 797 21 358 582 1 206 427 3
Low 2190 2034 1342 562 176 405 3658 1814 2848 336 1004 893 159 998 2356 2 1
Below cutoff 52 134 64 50 33 48 34 90 49 45 64 71 7 1 5

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_051606 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001286445 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001286446 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001286447 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001346031 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001346032 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_014722 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_015864 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006715275 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006715279 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006715281 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011515007 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011515008 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011515009 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011515012 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017011523 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017011524 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017011525 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017011526 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017011527 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047419590 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047419591 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047419592 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047419593 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001743760 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA760782 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB002384 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK299047 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300138 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300950 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL078584 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL133268 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL160400 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL512428 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC000930 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC001232 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471087 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN313643 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068272 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA024828 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA258515 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA675350 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB165647 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC406827 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC428807 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U49187 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000259698   ⟹   ENSP00000259698
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl624,804,284 - 24,911,048 (-)Ensembl
RefSeq Acc Id: ENST00000378023   ⟹   ENSP00000367262
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl624,839,359 - 24,877,355 (-)Ensembl
RefSeq Acc Id: ENST00000463828
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl624,828,139 - 24,836,050 (-)Ensembl
RefSeq Acc Id: ENST00000473070
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl624,840,272 - 24,843,136 (-)Ensembl
RefSeq Acc Id: ENST00000510784   ⟹   ENSP00000441305
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl624,839,359 - 25,042,018 (-)Ensembl
RefSeq Acc Id: ENST00000538035   ⟹   ENSP00000441138
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl624,804,325 - 24,910,711 (-)Ensembl
RefSeq Acc Id: ENST00000540914   ⟹   ENSP00000438425
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl624,839,373 - 24,877,365 (-)Ensembl
RefSeq Acc Id: ENST00000606385
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl625,014,952 - 25,042,170 (-)Ensembl
RefSeq Acc Id: ENST00000613507   ⟹   ENSP00000482957
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl624,804,282 - 24,936,052 (-)Ensembl
RefSeq Acc Id: ENST00000643623   ⟹   ENSP00000495245
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl624,839,428 - 24,910,703 (-)Ensembl
RefSeq Acc Id: ENST00000643898   ⟹   ENSP00000494268
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl624,804,284 - 24,935,960 (-)Ensembl
RefSeq Acc Id: ENST00000644411   ⟹   ENSP00000494904
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl624,840,297 - 24,911,070 (-)Ensembl
RefSeq Acc Id: ENST00000644621   ⟹   ENSP00000495914
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl624,839,442 - 24,911,063 (-)Ensembl
RefSeq Acc Id: ENST00000645100   ⟹   ENSP00000495879
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl624,839,979 - 24,935,948 (-)Ensembl
RefSeq Acc Id: ENST00000645703   ⟹   ENSP00000493948
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl624,875,710 - 24,931,997 (-)Ensembl
RefSeq Acc Id: ENST00000647136   ⟹   ENSP00000494150
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl624,839,994 - 24,910,885 (-)Ensembl
RefSeq Acc Id: ENST00000647309   ⟹   ENSP00000493881
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl624,873,644 - 24,931,997 (-)Ensembl
RefSeq Acc Id: NM_001286445   ⟹   NP_001273374
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38624,804,284 - 24,935,960 (-)NCBI
HuRef624,753,949 - 24,985,007 (-)NCBI
CHM1_1624,808,614 - 24,938,397 (-)NCBI
T2T-CHM13v2.0624,675,432 - 24,801,187 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001286446   ⟹   NP_001273375
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38624,839,344 - 25,042,168 (-)NCBI
HuRef624,753,949 - 24,985,007 (-)NCBI
CHM1_1624,841,689 - 25,044,502 (-)NCBI
T2T-CHM13v2.0624,704,415 - 24,907,349 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001286447   ⟹   NP_001273376
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38624,839,344 - 24,877,270 (-)NCBI
HuRef624,753,949 - 24,985,007 (-)NCBI
CHM1_1624,841,689 - 24,879,695 (-)NCBI
T2T-CHM13v2.0624,704,415 - 24,742,337 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001346031   ⟹   NP_001332960
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38624,804,284 - 24,911,048 (-)NCBI
T2T-CHM13v2.0624,675,432 - 24,776,117 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001346032   ⟹   NP_001332961
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38624,804,284 - 24,910,734 (-)NCBI
T2T-CHM13v2.0624,675,432 - 24,775,803 (-)NCBI
Sequence:
RefSeq Acc Id: NM_014722   ⟹   NP_055537
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38624,804,284 - 24,911,048 (-)NCBI
GRCh37624,804,512 - 24,936,275 (-)NCBI
Celera626,037,884 - 26,138,491 (-)RGD
HuRef624,753,949 - 24,985,007 (-)NCBI
CHM1_1624,808,614 - 24,913,502 (-)NCBI
T2T-CHM13v2.0624,675,432 - 24,776,117 (-)NCBI
Sequence:
RefSeq Acc Id: NM_015864   ⟹   NP_056948
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38624,839,344 - 24,877,270 (-)NCBI
GRCh37624,804,512 - 24,936,275 (-)NCBI
Build 36624,947,566 - 24,985,562 (-)NCBI Archive
Celera626,037,884 - 26,138,491 (-)RGD
HuRef624,753,949 - 24,985,007 (-)NCBI
CHM1_1624,841,689 - 24,879,695 (-)NCBI
T2T-CHM13v2.0624,704,415 - 24,742,337 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006715275   ⟹   XP_006715338
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38624,804,284 - 25,042,168 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006715279   ⟹   XP_006715342
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38624,804,284 - 24,877,270 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006715281   ⟹   XP_006715344
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38624,839,344 - 25,042,168 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011515012   ⟹   XP_011513314
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38624,804,284 - 25,042,168 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017011524   ⟹   XP_016867013
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38624,839,344 - 24,935,960 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047419590   ⟹   XP_047275546
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38624,835,734 - 25,042,168 (-)NCBI
RefSeq Acc Id: XM_047419591   ⟹   XP_047275547
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38624,835,703 - 24,935,960 (-)NCBI
RefSeq Acc Id: XM_047419592   ⟹   XP_047275548
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38624,839,344 - 24,935,960 (-)NCBI
RefSeq Acc Id: XM_047419593   ⟹   XP_047275549
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38624,839,344 - 24,910,734 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001273374 (Get FASTA)   NCBI Sequence Viewer  
  NP_001273375 (Get FASTA)   NCBI Sequence Viewer  
  NP_001273376 (Get FASTA)   NCBI Sequence Viewer  
  NP_001332960 (Get FASTA)   NCBI Sequence Viewer  
  NP_001332961 (Get FASTA)   NCBI Sequence Viewer  
  NP_055537 (Get FASTA)   NCBI Sequence Viewer  
  NP_056948 (Get FASTA)   NCBI Sequence Viewer  
  XP_006715338 (Get FASTA)   NCBI Sequence Viewer  
  XP_006715342 (Get FASTA)   NCBI Sequence Viewer  
  XP_006715344 (Get FASTA)   NCBI Sequence Viewer  
  XP_011513314 (Get FASTA)   NCBI Sequence Viewer  
  XP_016867013 (Get FASTA)   NCBI Sequence Viewer  
  XP_047275546 (Get FASTA)   NCBI Sequence Viewer  
  XP_047275547 (Get FASTA)   NCBI Sequence Viewer  
  XP_047275548 (Get FASTA)   NCBI Sequence Viewer  
  XP_047275549 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAC51134 (Get FASTA)   NCBI Sequence Viewer  
  AAH01232 (Get FASTA)   NCBI Sequence Viewer  
  BAA20840 (Get FASTA)   NCBI Sequence Viewer  
  BAH12935 (Get FASTA)   NCBI Sequence Viewer  
  BAH13222 (Get FASTA)   NCBI Sequence Viewer  
  BAH13380 (Get FASTA)   NCBI Sequence Viewer  
  EAW55467 (Get FASTA)   NCBI Sequence Viewer  
  EAW55468 (Get FASTA)   NCBI Sequence Viewer  
  EAW55469 (Get FASTA)   NCBI Sequence Viewer  
  EAW55470 (Get FASTA)   NCBI Sequence Viewer  
  EAW55471 (Get FASTA)   NCBI Sequence Viewer  
  EAW55472 (Get FASTA)   NCBI Sequence Viewer  
  Q9Y4F9 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_055537   ⟸   NM_014722
- Peptide Label: isoform 1
- UniProtKB: Q9BQ28 (UniProtKB/Swiss-Prot),   Q9Y4F9 (UniProtKB/Swiss-Prot),   A0A024QZY9 (UniProtKB/TrEMBL),   B7Z5J9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_056948   ⟸   NM_015864
- Peptide Label: isoform 2
- UniProtKB: Q9Y4F9 (UniProtKB/Swiss-Prot),   A0A024R028 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001273374   ⟸   NM_001286445
- Peptide Label: isoform 3
- UniProtKB: F5GX51 (UniProtKB/TrEMBL),   B7Z5J9 (UniProtKB/TrEMBL),   A0A2R8YEE0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001273375   ⟸   NM_001286446
- Peptide Label: isoform 4
- UniProtKB: Q9Y4F9 (UniProtKB/Swiss-Prot),   B7Z6U4 (UniProtKB/TrEMBL),   B7Z6D6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001273376   ⟸   NM_001286447
- Peptide Label: isoform 5
- UniProtKB: Q9Y4F9 (UniProtKB/Swiss-Prot),   B7Z6D6 (UniProtKB/TrEMBL),   F5H029 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006715338   ⟸   XM_006715275
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_006715342   ⟸   XM_006715279
- Peptide Label: isoform X2
- UniProtKB: F5GX51 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006715344   ⟸   XM_006715281
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: XP_011513314   ⟸   XM_011515012
- Peptide Label: isoform X9
- Sequence:
RefSeq Acc Id: XP_016867013   ⟸   XM_017011524
- Peptide Label: isoform X3
- UniProtKB: A0A2R8Y7B3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001332960   ⟸   NM_001346031
- Peptide Label: isoform 6
- UniProtKB: F5GX51 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001332961   ⟸   NM_001346032
- Peptide Label: isoform 6
- UniProtKB: F5GX51 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000259698   ⟸   ENST00000259698
RefSeq Acc Id: ENSP00000482957   ⟸   ENST00000613507
RefSeq Acc Id: ENSP00000367262   ⟸   ENST00000378023
RefSeq Acc Id: ENSP00000441138   ⟸   ENST00000538035
RefSeq Acc Id: ENSP00000441305   ⟸   ENST00000510784
RefSeq Acc Id: ENSP00000495245   ⟸   ENST00000643623
RefSeq Acc Id: ENSP00000494268   ⟸   ENST00000643898
RefSeq Acc Id: ENSP00000495914   ⟸   ENST00000644621
RefSeq Acc Id: ENSP00000494904   ⟸   ENST00000644411
RefSeq Acc Id: ENSP00000493948   ⟸   ENST00000645703
RefSeq Acc Id: ENSP00000495879   ⟸   ENST00000645100
RefSeq Acc Id: ENSP00000493881   ⟸   ENST00000647309
RefSeq Acc Id: ENSP00000494150   ⟸   ENST00000647136
RefSeq Acc Id: ENSP00000438425   ⟸   ENST00000540914
RefSeq Acc Id: XP_047275547   ⟸   XM_047419591
- Peptide Label: isoform X5
RefSeq Acc Id: XP_047275546   ⟸   XM_047419590
- Peptide Label: isoform X4
RefSeq Acc Id: XP_047275548   ⟸   XM_047419592
- Peptide Label: isoform X7
RefSeq Acc Id: XP_047275549   ⟸   XM_047419593
- Peptide Label: isoform X8
- UniProtKB: F5H029 (UniProtKB/TrEMBL)
Protein Domains
PL48

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9Y4F9-F1-model_v2 AlphaFold Q9Y4F9 1-1068 view protein structure

Promoters
RGD ID:6872210
Promoter ID:EPDNEW_H9270
Type:initiation region
Name:RIPOR2_4
Description:RHO family interacting cell polarization regulator 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H9271  EPDNEW_H9272  EPDNEW_H9273  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38624,804,545 - 24,804,605EPDNEW
RGD ID:6872212
Promoter ID:EPDNEW_H9271
Type:initiation region
Name:RIPOR2_3
Description:RHO family interacting cell polarization regulator 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H9270  EPDNEW_H9272  EPDNEW_H9273  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38624,877,270 - 24,877,330EPDNEW
RGD ID:6872214
Promoter ID:EPDNEW_H9272
Type:initiation region
Name:RIPOR2_1
Description:RHO family interacting cell polarization regulator 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H9270  EPDNEW_H9271  EPDNEW_H9273  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38624,911,048 - 24,911,108EPDNEW
RGD ID:6804222
Promoter ID:HG_KWN:52529
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:OTTHUMT00000040027
Position:
Human AssemblyChrPosition (strand)Source
Build 36624,943,746 - 24,944,246 (-)MPROMDB
RGD ID:6872216
Promoter ID:EPDNEW_H9273
Type:initiation region
Name:RIPOR2_2
Description:RHO family interacting cell polarization regulator 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H9270  EPDNEW_H9271  EPDNEW_H9272  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38625,042,168 - 25,042,228EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:13872 AgrOrtholog
COSMIC RIPOR2 COSMIC
Ensembl Genes ENSG00000111913 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000259698 ENTREZGENE
  ENSP00000259698.4 UniProtKB/Swiss-Prot
  ENSP00000367262 ENTREZGENE
  ENSP00000367262.4 UniProtKB/Swiss-Prot
  ENSP00000438425 ENTREZGENE
  ENSP00000438425.1 UniProtKB/TrEMBL
  ENSP00000441138 ENTREZGENE
  ENSP00000441138.2 UniProtKB/TrEMBL
  ENSP00000441305 ENTREZGENE
  ENSP00000441305.1 UniProtKB/TrEMBL
  ENSP00000482957.1 UniProtKB/Swiss-Prot
  ENSP00000493881.1 UniProtKB/TrEMBL
  ENSP00000493948.1 UniProtKB/TrEMBL
  ENSP00000494150 ENTREZGENE
  ENSP00000494150.1 UniProtKB/TrEMBL
  ENSP00000494268 ENTREZGENE
  ENSP00000494268.2 UniProtKB/TrEMBL
  ENSP00000494904.1 UniProtKB/TrEMBL
  ENSP00000495245.1 UniProtKB/Swiss-Prot
  ENSP00000495879 ENTREZGENE
  ENSP00000495879.1 UniProtKB/TrEMBL
  ENSP00000495914.1 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000259698 ENTREZGENE
  ENST00000259698.9 UniProtKB/Swiss-Prot
  ENST00000378023 ENTREZGENE
  ENST00000378023.8 UniProtKB/Swiss-Prot
  ENST00000510784 ENTREZGENE
  ENST00000510784.8 UniProtKB/TrEMBL
  ENST00000538035 ENTREZGENE
  ENST00000538035.6 UniProtKB/TrEMBL
  ENST00000540914 ENTREZGENE
  ENST00000540914.5 UniProtKB/TrEMBL
  ENST00000613507.4 UniProtKB/Swiss-Prot
  ENST00000643623.1 UniProtKB/Swiss-Prot
  ENST00000643898 ENTREZGENE
  ENST00000643898.2 UniProtKB/TrEMBL
  ENST00000644411.1 UniProtKB/TrEMBL
  ENST00000644621.1 UniProtKB/Swiss-Prot
  ENST00000645100 ENTREZGENE
  ENST00000645100.1 UniProtKB/TrEMBL
  ENST00000645703.1 UniProtKB/TrEMBL
  ENST00000647136 ENTREZGENE
  ENST00000647136.1 UniProtKB/TrEMBL
  ENST00000647309.1 UniProtKB/TrEMBL
Gene3D-CATH 1.25.10.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000111913 GTEx
HGNC ID HGNC:13872 ENTREZGENE
Human Proteome Map RIPOR2 Human Proteome Map
InterPro ARM-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ARM-type_fold UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FAM65_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FAM65B UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RIPOR3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:9750 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 9750 ENTREZGENE
OMIM 607017 OMIM
  611410 OMIM
  616515 OMIM
PANTHER PTHR15829 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR15829:SF2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam PL48 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA162387677 PharmGKB
Superfamily-SCOP SSF48371 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A024QZY9 ENTREZGENE, UniProtKB/TrEMBL
  A0A024R028 ENTREZGENE, UniProtKB/TrEMBL
  A0A2R8Y4B9_HUMAN UniProtKB/TrEMBL
  A0A2R8Y4N2_HUMAN UniProtKB/TrEMBL
  A0A2R8Y7B3 ENTREZGENE, UniProtKB/TrEMBL
  A0A2R8YEE0 ENTREZGENE, UniProtKB/TrEMBL
  A0A2R8YF77_HUMAN UniProtKB/TrEMBL
  B7Z5J9 ENTREZGENE, UniProtKB/TrEMBL
  B7Z6D6 ENTREZGENE, UniProtKB/TrEMBL
  B7Z6U4 ENTREZGENE, UniProtKB/TrEMBL
  F5GX51 ENTREZGENE, UniProtKB/TrEMBL
  F5H029 ENTREZGENE, UniProtKB/TrEMBL
  Q9BQ28 ENTREZGENE
  Q9Y4F9 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary A6NHP2 UniProtKB/Swiss-Prot
  Q13529 UniProtKB/Swiss-Prot
  Q5VV37 UniProtKB/Swiss-Prot
  Q5VV38 UniProtKB/Swiss-Prot
  Q9BQ28 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2017-02-28 RIPOR2  RHO family interacting cell polarization regulator 2  FAM65B  family with sequence similarity 65 member B  Symbol and/or name change 5135510 APPROVED
2015-11-24 FAM65B  family with sequence similarity 65 member B  FAM65B  family with sequence similarity 65, member B  Symbol and/or name change 5135510 APPROVED