RIPPLY2 (ripply transcriptional repressor 2) - Rat Genome Database

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Gene: RIPPLY2 (ripply transcriptional repressor 2) Homo sapiens
Analyze
Symbol: RIPPLY2
Name: ripply transcriptional repressor 2
RGD ID: 1604749
HGNC Page HGNC:21390
Description: Predicted to be involved in negative regulation of transcription by RNA polymerase II and somite rostral/caudal axis specification. Predicted to act upstream of or within several processes, including Notch signaling pathway; determination of left/right symmetry; and post-anal tail morphogenesis. Predicted to be active in nucleus. Implicated in spondylocostal dysostosis 6.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: C6orf159; dJ237I15.1; ripply2 homolog; SCDO6
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38683,853,229 - 83,857,515 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl683,853,360 - 83,857,515 (+)EnsemblGRCh38hg38GRCh38
GRCh37684,562,948 - 84,567,234 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36684,619,704 - 84,623,953 (+)NCBINCBI36Build 36hg18NCBI36
Celera684,996,340 - 85,000,589 (+)NCBICelera
Cytogenetic Map6q14.2NCBI
HuRef681,792,540 - 81,796,789 (+)NCBIHuRef
CHM1_1684,660,599 - 84,664,848 (+)NCBICHM1_1
T2T-CHM13v2.0685,076,512 - 85,080,798 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
nucleus  (IBA,IEA,ISS)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View
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:12477932   PMID:16326386   PMID:16341674   PMID:17531978   PMID:19913121   PMID:20301533   PMID:20301771   PMID:20511563   PMID:20628086   PMID:21873635   PMID:25343988   PMID:25416956  
PMID:26238661   PMID:27107012   PMID:28514442   PMID:32212228   PMID:32296183   PMID:32814053   PMID:33410135   PMID:33961781  


Genomics

Comparative Map Data
RIPPLY2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38683,853,229 - 83,857,515 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl683,853,360 - 83,857,515 (+)EnsemblGRCh38hg38GRCh38
GRCh37684,562,948 - 84,567,234 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36684,619,704 - 84,623,953 (+)NCBINCBI36Build 36hg18NCBI36
Celera684,996,340 - 85,000,589 (+)NCBICelera
Cytogenetic Map6q14.2NCBI
HuRef681,792,540 - 81,796,789 (+)NCBIHuRef
CHM1_1684,660,599 - 84,664,848 (+)NCBICHM1_1
T2T-CHM13v2.0685,076,512 - 85,080,798 (+)NCBIT2T-CHM13v2.0
Ripply2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39986,897,590 - 86,902,494 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl986,897,590 - 86,901,970 (+)EnsemblGRCm39 Ensembl
GRCm38987,015,537 - 87,020,441 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl987,015,537 - 87,019,917 (+)EnsemblGRCm38mm10GRCm38
MGSCv37986,910,372 - 86,914,751 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36986,813,266 - 86,817,862 (+)NCBIMGSCv36mm8
Celera984,106,720 - 84,111,102 (+)NCBICelera
Cytogenetic Map9E3.1NCBI
cM Map946.69NCBI
Ripply2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8896,854,393 - 96,858,963 (+)NCBIGRCr8
mRatBN7.2887,974,444 - 87,979,002 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl887,974,776 - 87,978,969 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx893,644,365 - 93,648,821 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0891,843,583 - 91,848,039 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0889,680,879 - 89,685,334 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0894,676,579 - 94,691,125 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl894,686,938 - 94,691,041 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0894,184,957 - 94,199,385 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4892,272,079 - 92,276,182 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1892,291,533 - 92,295,746 (+)NCBI
Celera887,550,383 - 87,564,833 (+)NCBICelera
Cytogenetic Map8q31NCBI
Ripply2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_00495541111,418,744 - 11,422,766 (+)NCBIChiLan1.0ChiLan1.0
RIPPLY2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v25103,952,209 - 103,958,674 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan16101,849,018 - 101,855,520 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0681,748,370 - 81,754,129 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1685,022,737 - 85,027,930 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl685,022,737 - 85,027,930 (+)Ensemblpanpan1.1panPan2
RIPPLY2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11244,144,821 - 44,168,236 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Ripply2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494679,365,571 - 79,369,757 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365107,101,148 - 7,105,185 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365107,101,148 - 7,106,184 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
RIPPLY2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl182,428,047 - 82,432,638 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1182,427,956 - 82,432,844 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2192,676,722 - 92,681,602 (-)NCBISscrofa10.2Sscrofa10.2susScr3
RIPPLY2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1138,516,589 - 8,522,224 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl138,518,101 - 8,522,091 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666040184,730,364 - 184,736,686 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Ripply2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462479910,750,928 - 10,755,797 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in RIPPLY2
57 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001009994.3(RIPPLY2):c.240-1G>C single nucleotide variant not provided [RCV000722357] Chr6:83857241 [GRCh38]
Chr6:84566960 [GRCh37]
Chr6:6q14.2		 uncertain significance
GRCh38/hg38 6q14.1-16.1(chr6:82569098-93753476)x1 copy number loss See cases [RCV000052192] Chr6:82569098..93753476 [GRCh38]
Chr6:83278815..94463194 [GRCh37]
Chr6:83335534..94519915 [NCBI36]
Chr6:6q14.1-16.1		 pathogenic
GRCh38/hg38 6q14.2-14.3(chr6:83656740-84305263)x3 copy number gain See cases [RCV000053346] Chr6:83656740..84305263 [GRCh38]
Chr6:84366459..85014981 [GRCh37]
Chr6:84423178..85071700 [NCBI36]
Chr6:6q14.2-14.3		 uncertain significance
GRCh38/hg38 6q14.2-14.3(chr6:83680568-84270992)x3 copy number gain See cases [RCV000053364] Chr6:83680568..84270992 [GRCh38]
Chr6:84390287..84980710 [GRCh37]
Chr6:84447006..85037429 [NCBI36]
Chr6:6q14.2-14.3		 uncertain significance
GRCh38/hg38 6q14.2-14.3(chr6:83713534-84298234)x3 copy number gain See cases [RCV000134093] Chr6:83713534..84298234 [GRCh38]
Chr6:84423253..85007952 [GRCh37]
Chr6:84479972..85064671 [NCBI36]
Chr6:6q14.2-14.3		 uncertain significance
GRCh38/hg38 6q14.2-16.1(chr6:83838303-98822313)x1 copy number loss See cases [RCV000135773] Chr6:83838303..98822313 [GRCh38]
Chr6:84548022..99270189 [GRCh37]
Chr6:84604741..99376910 [NCBI36]
Chr6:6q14.2-16.1		 pathogenic
GRCh38/hg38 6q14.1-14.2(chr6:78912019-84096427)x1 copy number loss See cases [RCV000137752] Chr6:78912019..84096427 [GRCh38]
Chr6:79621736..84806146 [GRCh37]
Chr6:79678455..84862865 [NCBI36]
Chr6:6q14.1-14.2		 uncertain significance
GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3 copy number gain See cases [RCV000139729] Chr6:74382807..142040500 [GRCh38]
Chr6:75092523..142361637 [GRCh37]
Chr6:75149243..142403330 [NCBI36]
Chr6:6q13-24.1		 pathogenic
GRCh38/hg38 6q14.2-14.3(chr6:83656740-84324523)x3 copy number gain See cases [RCV000140655] Chr6:83656740..84324523 [GRCh38]
Chr6:84366459..85034241 [GRCh37]
Chr6:84423178..85090960 [NCBI36]
Chr6:6q14.2-14.3		 uncertain significance
GRCh38/hg38 6q14.2-14.3(chr6:83664023-84334552)x3 copy number gain See cases [RCV000142064] Chr6:83664023..84334552 [GRCh38]
Chr6:84373742..85044270 [GRCh37]
Chr6:84430461..85100989 [NCBI36]
Chr6:6q14.2-14.3		 uncertain significance
NM_001009994.3(RIPPLY2):c.299del (p.Leu100fs) deletion Klippel-Feil syndrome 2, autosomal recessive [RCV000202450]|not provided [RCV000207167] Chr6:83857301 [GRCh38]
Chr6:84567020 [GRCh37]
Chr6:6q14.2		 pathogenic|likely pathogenic|uncertain significance
GRCh38/hg38 6q14.2-14.3(chr6:83656740-84324523)x4 copy number gain See cases [RCV000143170] Chr6:83656740..84324523 [GRCh38]
Chr6:84366459..85034241 [GRCh37]
Chr6:84423178..85090960 [NCBI36]
Chr6:6q14.2-14.3		 uncertain significance
GRCh38/hg38 6q14.1-16.1(chr6:75926199-92710793)x1 copy number loss See cases [RCV000143505] Chr6:75926199..92710793 [GRCh38]
Chr6:76635916..93420511 [GRCh37]
Chr6:76692636..93477232 [NCBI36]
Chr6:6q14.1-16.1		 pathogenic
NC_000006.12:g.83843759_83988634dup duplication Large for gestational age [RCV000161448]|Normal pregnancy [RCV000161447] Chr6:83843759..83988634 [GRCh38]
Chr6:84553478..84698353 [GRCh37]
Chr6:6q14.2		 not provided
NM_001009994.3(RIPPLY2):c.240-4T>G single nucleotide variant RIPPLY2-related condition [RCV003390955]|Spondylocostal dysostosis 2, autosomal recessive [RCV002270022]|Spondylocostal dysostosis 6, autosomal recessive [RCV000207041]|not provided [RCV000888795] Chr6:83857238 [GRCh38]
Chr6:84566957 [GRCh37]
Chr6:6q14.2		 pathogenic|likely pathogenic|likely benign|not provided
NM_001009994.3(RIPPLY2):c.238A>T (p.Arg80Ter) single nucleotide variant Spondylocostal dysostosis 2, autosomal recessive [RCV002270021]|Spondylocostal dysostosis 6, autosomal recessive [RCV000207268]|not provided [RCV000275086] Chr6:83854160 [GRCh38]
Chr6:84563879 [GRCh37]
Chr6:6q14.2		 pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided
GRCh37/hg19 6q14.2-14.3(chr6:84373742-85044270)x3 copy number gain See cases [RCV000449263] Chr6:84373742..85044270 [GRCh37]
Chr6:6q14.2-14.3		 likely benign
GRCh37/hg19 6q14.2-14.3(chr6:84354004-85044270)x3 copy number gain See cases [RCV000447412] Chr6:84354004..85044270 [GRCh37]
Chr6:6q14.2-14.3		 uncertain significance
GRCh37/hg19 6q14.2(chr6:84452336-84742729)x1 copy number loss See cases [RCV000447459] Chr6:84452336..84742729 [GRCh37]
Chr6:6q14.2		 uncertain significance
GRCh37/hg19 6q14.2-14.3(chr6:84366014-84922654)x3 copy number gain See cases [RCV000448612] Chr6:84366014..84922654 [GRCh37]
Chr6:6q14.2-14.3		 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
GRCh37/hg19 6q14.2-14.3(chr6:84364140-85044270)x3 copy number gain See cases [RCV000511181] Chr6:84364140..85044270 [GRCh37]
Chr6:6q14.2-14.3		 conflicting data from submitters
NM_001009994.3(RIPPLY2):c.217T>C (p.Tyr73His) single nucleotide variant not specified [RCV004305067] Chr6:83854139 [GRCh38]
Chr6:84563858 [GRCh37]
Chr6:6q14.2		 uncertain significance
GRCh37/hg19 6q14.2-14.3(chr6:84374492-85044270)x3 copy number gain See cases [RCV000512299] Chr6:84374492..85044270 [GRCh37]
Chr6:6q14.2-14.3		 uncertain significance
GRCh37/hg19 6q14.2(chr6:84480837-84803980)x1 copy number loss not provided [RCV000682690] Chr6:84480837..84803980 [GRCh37]
Chr6:6q14.2		 uncertain significance
GRCh37/hg19 6q13-14.2(chr6:73674612-84829774)x1 copy number loss not provided [RCV000682681] Chr6:73674612..84829774 [GRCh37]
Chr6:6q13-14.2		 pathogenic
GRCh37/hg19 6q14.1-16.1(chr6:81261418-97796269)x3 copy number gain not provided [RCV000682688] Chr6:81261418..97796269 [GRCh37]
Chr6:6q14.1-16.1		 pathogenic
GRCh37/hg19 6q14.2-14.3(chr6:84373742-85044270)x3 copy number gain not provided [RCV000682689] Chr6:84373742..85044270 [GRCh37]
Chr6:6q14.2-14.3		 uncertain significance
Single allele deletion not provided [RCV000677932] Chr6:83319012..91907669 [GRCh37]
Chr6:6q14.1-15		 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(chr6:108666-170980171)x3 copy number gain not provided [RCV000745403] Chr6:108666..170980171 [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
GRCh37/hg19 6q14.2-14.3(chr6:84348873-85052572)x3 copy number gain not provided [RCV000745882] Chr6:84348873..85052572 [GRCh37]
Chr6:6q14.2-14.3		 benign
GRCh37/hg19 6q14.2-14.3(chr6:84348995-85043919)x3 copy number gain not provided [RCV000745883] Chr6:84348995..85043919 [GRCh37]
Chr6:6q14.2-14.3		 benign
GRCh37/hg19 6q14.2-14.3(chr6:84356242-85043919)x3 copy number gain not provided [RCV000745884] Chr6:84356242..85043919 [GRCh37]
Chr6:6q14.2-14.3		 benign
NM_001009994.3(RIPPLY2):c.129C>G (p.Ala43=) single nucleotide variant RIPPLY2-related condition [RCV003913181]|not provided [RCV000939564] Chr6:83853728 [GRCh38]
Chr6:84563447 [GRCh37]
Chr6:6q14.2		 benign|likely benign
GRCh37/hg19 6q14.2-14.3(chr6:84354003-85052572)x3 copy number gain not provided [RCV000845624] Chr6:84354003..85052572 [GRCh37]
Chr6:6q14.2-14.3		 uncertain significance
NM_001009994.3(RIPPLY2):c.150G>A (p.Glu50=) single nucleotide variant not provided [RCV000915867] Chr6:83853749 [GRCh38]
Chr6:84563468 [GRCh37]
Chr6:6q14.2		 benign
GRCh37/hg19 6q14.2-14.3(chr6:84369643-85044077)x3 copy number gain not provided [RCV000849732] Chr6:84369643..85044077 [GRCh37]
Chr6:6q14.2-14.3		 uncertain significance
GRCh37/hg19 6q14.2(chr6:84559903-84819164)x1 copy number loss not provided [RCV001005825] Chr6:84559903..84819164 [GRCh37]
Chr6:6q14.2		 uncertain significance
NC_000006.11:g.(?_84563136)_(84567108_?)del deletion not provided [RCV003105400] Chr6:84563136..84567108 [GRCh37]
Chr6:6q14.2		 uncertain significance
NM_001009994.3(RIPPLY2):c.80C>T (p.Ala27Val) single nucleotide variant not provided [RCV003105104] Chr6:83853496 [GRCh38]
Chr6:84563215 [GRCh37]
Chr6:6q14.2		 uncertain significance
NC_000006.11:g.(?_84563136)_(84563512_?)del deletion not provided [RCV003105401] Chr6:84563136..84563512 [GRCh37]
Chr6:6q14.2		 uncertain significance
NM_001009994.3(RIPPLY2):c.346G>C (p.Asp116His) single nucleotide variant not provided [RCV001907603] Chr6:83857348 [GRCh38]
Chr6:84567067 [GRCh37]
Chr6:6q14.2		 uncertain significance
NM_001009994.3(RIPPLY2):c.-51T>C single nucleotide variant not provided [RCV001656426] Chr6:83853366 [GRCh38]
Chr6:84563085 [GRCh37]
Chr6:6q14.2		 benign
NM_001009994.3(RIPPLY2):c.239+263G>A single nucleotide variant not provided [RCV001635790] Chr6:83854424 [GRCh38]
Chr6:84564143 [GRCh37]
Chr6:6q14.2		 benign
NM_001009994.3(RIPPLY2):c.239+195G>A single nucleotide variant not provided [RCV001637930] Chr6:83854356 [GRCh38]
Chr6:84564075 [GRCh37]
Chr6:6q14.2		 benign
NM_001009994.3(RIPPLY2):c.95+51T>G single nucleotide variant not provided [RCV001713768] Chr6:83853562 [GRCh38]
Chr6:84563281 [GRCh37]
Chr6:6q14.2		 benign
NM_001009994.3(RIPPLY2):c.352G>A (p.Glu118Lys) single nucleotide variant not provided [RCV001319494]|not specified [RCV004034975] Chr6:83857354 [GRCh38]
Chr6:84567073 [GRCh37]
Chr6:6q14.2		 uncertain significance
NC_000006.11:g.(?_83878953)_(84567108_?)dup duplication not provided [RCV001299718] Chr6:83878953..84567108 [GRCh37]
Chr6:6q14.1-14.2		 uncertain significance
NM_001009994.3(RIPPLY2):c.100G>A (p.Ala34Thr) single nucleotide variant not provided [RCV001321353]|not specified [RCV004035032] Chr6:83853699 [GRCh38]
Chr6:84563418 [GRCh37]
Chr6:6q14.2		 uncertain significance
NM_001009994.2(RIPPLY2):c.2T>C (p.Met1Thr) single nucleotide variant Spondylocostal dysostosis 6, autosomal recessive [RCV001337065] Chr6:83853418 [GRCh38]
Chr6:84563137 [GRCh37]
Chr6:6q14.2		 pathogenic
NM_001009994.3(RIPPLY2):c.96-4G>A single nucleotide variant RIPPLY2-related condition [RCV003980523]|Spondylocostal dysostosis 6, autosomal recessive [RCV001796535]|not provided [RCV001514430] Chr6:83853691 [GRCh38]
Chr6:84563410 [GRCh37]
Chr6:6q14.2		 benign
NM_001009994.3(RIPPLY2):c.12G>A (p.Ala4=) single nucleotide variant Spondylocostal dysostosis 6, autosomal recessive [RCV001796533]|not provided [RCV001511803] Chr6:83853428 [GRCh38]
Chr6:84563147 [GRCh37]
Chr6:6q14.2		 benign
NM_001009994.3(RIPPLY2):c.176T>C (p.Met59Thr) single nucleotide variant not provided [RCV001985355]|not specified [RCV004043749] Chr6:83854098 [GRCh38]
Chr6:84563817 [GRCh37]
Chr6:6q14.2		 uncertain significance
GRCh37/hg19 6q12-16.1(chr6:69938252-94379210) copy number gain not specified [RCV002053581] Chr6:69938252..94379210 [GRCh37]
Chr6:6q12-16.1		 pathogenic
GRCh37/hg19 6q14.1-15(chr6:83141523-88023466)x1 copy number loss not provided [RCV001829074] Chr6:83141523..88023466 [GRCh37]
Chr6:6q14.1-15		 pathogenic
NM_001009994.3(RIPPLY2):c.70A>G (p.Thr24Ala) single nucleotide variant not provided [RCV002042369] Chr6:83853486 [GRCh38]
Chr6:84563205 [GRCh37]
Chr6:6q14.2		 uncertain significance
NM_001009994.3(RIPPLY2):c.229C>T (p.His77Tyr) single nucleotide variant not provided [RCV002041742] Chr6:83854151 [GRCh38]
Chr6:84563870 [GRCh37]
Chr6:6q14.2		 uncertain significance
GRCh37/hg19 6q14.2(chr6:84452336-84742729) copy number loss not specified [RCV002053593] Chr6:84452336..84742729 [GRCh37]
Chr6:6q14.2		 uncertain significance
NM_001009994.3(RIPPLY2):c.387A>T (p.Ter129Tyr) single nucleotide variant not provided [RCV001966644] Chr6:83857389 [GRCh38]
Chr6:84567108 [GRCh37]
Chr6:6q14.2		 uncertain significance
NM_001009994.3(RIPPLY2):c.95+2T>G single nucleotide variant not provided [RCV001935180] Chr6:83853513 [GRCh38]
Chr6:84563232 [GRCh37]
Chr6:6q14.2		 uncertain significance
NM_001009994.3(RIPPLY2):c.74G>A (p.Arg25Gln) single nucleotide variant not provided [RCV002030383] Chr6:83853490 [GRCh38]
Chr6:84563209 [GRCh37]
Chr6:6q14.2		 uncertain significance
NM_001009994.3(RIPPLY2):c.50G>C (p.Cys17Ser) single nucleotide variant not provided [RCV001936295] Chr6:83853466 [GRCh38]
Chr6:84563185 [GRCh37]
Chr6:6q14.2		 uncertain significance
NM_001009994.3(RIPPLY2):c.25G>T (p.Gly9Cys) single nucleotide variant not provided [RCV001974976] Chr6:83853441 [GRCh38]
Chr6:84563160 [GRCh37]
Chr6:6q14.2		 uncertain significance
NM_001009994.3(RIPPLY2):c.40G>T (p.Ala14Ser) single nucleotide variant not provided [RCV001907509]|not specified [RCV004039769] Chr6:83853456 [GRCh38]
Chr6:84563175 [GRCh37]
Chr6:6q14.2		 uncertain significance
NM_001009994.3(RIPPLY2):c.115C>G (p.Pro39Ala) single nucleotide variant not provided [RCV002047452] Chr6:83853714 [GRCh38]
Chr6:84563433 [GRCh37]
Chr6:6q14.2		 uncertain significance
NM_001009994.3(RIPPLY2):c.175-20T>A single nucleotide variant not provided [RCV002074644] Chr6:83854077 [GRCh38]
Chr6:84563796 [GRCh37]
Chr6:6q14.2		 likely benign
NM_001009994.3(RIPPLY2):c.129C>T (p.Ala43=) single nucleotide variant not provided [RCV002109085] Chr6:83853728 [GRCh38]
Chr6:84563447 [GRCh37]
Chr6:6q14.2		 likely benign
NM_001009994.3(RIPPLY2):c.174+14G>A single nucleotide variant not provided [RCV002145228] Chr6:83853787 [GRCh38]
Chr6:84563506 [GRCh37]
Chr6:6q14.2		 likely benign
NM_001009994.3(RIPPLY2):c.95+20T>C single nucleotide variant not provided [RCV002087505] Chr6:83853531 [GRCh38]
Chr6:84563250 [GRCh37]
Chr6:6q14.2		 likely benign
NM_001009994.3(RIPPLY2):c.239+19C>T single nucleotide variant not provided [RCV002097588] Chr6:83854180 [GRCh38]
Chr6:84563899 [GRCh37]
Chr6:6q14.2		 benign
NM_001009994.3(RIPPLY2):c.96-18T>C single nucleotide variant not provided [RCV002150633] Chr6:83853677 [GRCh38]
Chr6:84563396 [GRCh37]
Chr6:6q14.2		 likely benign
NM_001009994.3(RIPPLY2):c.75G>T (p.Arg25=) single nucleotide variant not provided [RCV002214920] Chr6:83853491 [GRCh38]
Chr6:84563210 [GRCh37]
Chr6:6q14.2		 likely benign
NM_001009994.3(RIPPLY2):c.351C>T (p.Ser117=) single nucleotide variant not provided [RCV002180264] Chr6:83857353 [GRCh38]
Chr6:84567072 [GRCh37]
Chr6:6q14.2		 likely benign
GRCh37/hg19 6q14.1-16.1(chr6:78911022-98909173)x1 copy number loss See cases [RCV002292710] Chr6:78911022..98909173 [GRCh37]
Chr6:6q14.1-16.1		 uncertain significance
GRCh37/hg19 6q14.2-14.3(chr6:84373743-85044270)x3 copy number gain not provided [RCV002473700] Chr6:84373743..85044270 [GRCh37]
Chr6:6q14.2-14.3		 uncertain significance
NM_001009994.3(RIPPLY2):c.174+9G>A single nucleotide variant not provided [RCV002780165] Chr6:83853782 [GRCh38]
Chr6:84563501 [GRCh37]
Chr6:6q14.2		 likely benign
NM_001009994.3(RIPPLY2):c.40G>A (p.Ala14Thr) single nucleotide variant Spondylocostal dysostosis 6, autosomal recessive [RCV003134492]|not provided [RCV002785619] Chr6:83853456 [GRCh38]
Chr6:84563175 [GRCh37]
Chr6:6q14.2		 uncertain significance
NM_001009994.3(RIPPLY2):c.175-13C>T single nucleotide variant not provided [RCV002795485] Chr6:83854084 [GRCh38]
Chr6:84563803 [GRCh37]
Chr6:6q14.2		 likely benign
NM_001009994.3(RIPPLY2):c.36T>C (p.Ser12=) single nucleotide variant not provided [RCV003080001] Chr6:83853452 [GRCh38]
Chr6:84563171 [GRCh37]
Chr6:6q14.2		 likely benign
NM_001009994.3(RIPPLY2):c.367G>T (p.Asp123Tyr) single nucleotide variant not specified [RCV004213208] Chr6:83857369 [GRCh38]
Chr6:84567088 [GRCh37]
Chr6:6q14.2		 uncertain significance
NM_001009994.3(RIPPLY2):c.81G>A (p.Ala27=) single nucleotide variant not provided [RCV002597013] Chr6:83853497 [GRCh38]
Chr6:84563216 [GRCh37]
Chr6:6q14.2		 likely benign
NM_001009994.3(RIPPLY2):c.35G>C (p.Ser12Thr) single nucleotide variant not provided [RCV002982257]|not specified [RCV004065058] Chr6:83853451 [GRCh38]
Chr6:84563170 [GRCh37]
Chr6:6q14.2		 uncertain significance
NM_001009994.3(RIPPLY2):c.141AGA[1] (p.Glu50del) microsatellite not provided [RCV003031855] Chr6:83853739..83853741 [GRCh38]
Chr6:84563458..84563460 [GRCh37]
Chr6:6q14.2		 uncertain significance
NM_001009994.3(RIPPLY2):c.239+19C>G single nucleotide variant not provided [RCV003028670] Chr6:83854180 [GRCh38]
Chr6:84563899 [GRCh37]
Chr6:6q14.2		 likely benign
NM_001009994.3(RIPPLY2):c.378T>C (p.Cys126=) single nucleotide variant not provided [RCV002613222] Chr6:83857380 [GRCh38]
Chr6:84567099 [GRCh37]
Chr6:6q14.2		 likely benign
NM_001009994.3(RIPPLY2):c.95+12C>G single nucleotide variant not provided [RCV002589665] Chr6:83853523 [GRCh38]
Chr6:84563242 [GRCh37]
Chr6:6q14.2		 likely benign
NM_001009994.3(RIPPLY2):c.101C>T (p.Ala34Val) single nucleotide variant not provided [RCV003092252] Chr6:83853700 [GRCh38]
Chr6:84563419 [GRCh37]
Chr6:6q14.2		 uncertain significance
GRCh37/hg19 6q14.1-14.3(chr6:82840207-86522229)x1 copy number loss See cases [RCV003222551] Chr6:82840207..86522229 [GRCh37]
Chr6:6q14.1-14.3		 pathogenic
NM_001009994.3(RIPPLY2):c.61G>A (p.Asp21Asn) single nucleotide variant not specified [RCV004356344] Chr6:83853477 [GRCh38]
Chr6:84563196 [GRCh37]
Chr6:6q14.2		 uncertain significance
NM_001009994.3(RIPPLY2):c.121_124del (p.Val41fs) deletion not provided [RCV003689759] Chr6:83853717..83853720 [GRCh38]
Chr6:84563436..84563439 [GRCh37]
Chr6:6q14.2		 uncertain significance
NM_001009994.3(RIPPLY2):c.9C>T (p.Asn3=) single nucleotide variant not provided [RCV003559265] Chr6:83853425 [GRCh38]
Chr6:84563144 [GRCh37]
Chr6:6q14.2		 likely benign
NM_001009994.3(RIPPLY2):c.95+18G>A single nucleotide variant not provided [RCV003852318] Chr6:83853529 [GRCh38]
Chr6:84563248 [GRCh37]
Chr6:6q14.2		 likely benign
NM_001009994.3(RIPPLY2):c.42T>G (p.Ala14=) single nucleotide variant not provided [RCV003701028] Chr6:83853458 [GRCh38]
Chr6:84563177 [GRCh37]
Chr6:6q14.2		 likely benign
NM_001009994.3(RIPPLY2):c.95+12C>A single nucleotide variant not provided [RCV003838595] Chr6:83853523 [GRCh38]
Chr6:84563242 [GRCh37]
Chr6:6q14.2		 likely benign
NM_001009994.3(RIPPLY2):c.33G>A (p.Glu11=) single nucleotide variant not provided [RCV003679732] Chr6:83853449 [GRCh38]
Chr6:84563168 [GRCh37]
Chr6:6q14.2		 likely benign
NM_001009994.3(RIPPLY2):c.153G>C (p.Thr51=) single nucleotide variant not provided [RCV003843760] Chr6:83853752 [GRCh38]
Chr6:84563471 [GRCh37]
Chr6:6q14.2		 likely benign
NM_001009994.3(RIPPLY2):c.34_35del (p.Ser12fs) microsatellite not provided [RCV003677398] Chr6:83853446..83853447 [GRCh38]
Chr6:84563165..84563166 [GRCh37]
Chr6:6q14.2		 uncertain significance
NM_001009994.3(RIPPLY2):c.131G>A (p.Gly44Glu) single nucleotide variant not provided [RCV003707354] Chr6:83853730 [GRCh38]
Chr6:84563449 [GRCh37]
Chr6:6q14.2		 uncertain significance
NM_001009994.3(RIPPLY2):c.95+19C>T single nucleotide variant not provided [RCV003721265] Chr6:83853530 [GRCh38]
Chr6:84563249 [GRCh37]
Chr6:6q14.2		 likely benign
NM_001009994.3(RIPPLY2):c.174+18C>T single nucleotide variant not provided [RCV003863940] Chr6:83853791 [GRCh38]
Chr6:84563510 [GRCh37]
Chr6:6q14.2		 likely benign
NM_001009994.3(RIPPLY2):c.240-20A>G single nucleotide variant not provided [RCV003679616] Chr6:83857222 [GRCh38]
Chr6:84566941 [GRCh37]
Chr6:6q14.2		 likely benign
NM_001009994.3(RIPPLY2):c.155C>G (p.Pro52Arg) single nucleotide variant not specified [RCV004454053] Chr6:83853754 [GRCh38]
Chr6:84563473 [GRCh37]
Chr6:6q14.2		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:98
Count of miRNA genes:45
Interacting mature miRNAs:49
Transcripts:ENST00000369687, ENST00000369689
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.


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
High
Medium 188 5 5 2 1 1823 8 6 73 1
Low 1184 660 372 26 66 20 968 582 1565 57 855 284 12 1 180 710
Below cutoff 915 1165 634 189 467 91 1866 946 259 130 389 754 100 658 1165 1

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000369687   ⟹   ENSP00000358701
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl683,853,592 - 83,857,515 (+)Ensembl
RefSeq Acc Id: ENST00000369689   ⟹   ENSP00000358703
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl683,853,360 - 83,857,515 (+)Ensembl
RefSeq Acc Id: ENST00000635617
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl683,853,590 - 83,857,513 (+)Ensembl
RefSeq Acc Id: NM_001009994   ⟹   NP_001009994
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38683,853,360 - 83,857,515 (+)NCBI
GRCh37684,562,985 - 84,567,234 (+)RGD
Build 36684,619,704 - 84,623,953 (+)NCBI Archive
Celera684,996,340 - 85,000,589 (+)RGD
HuRef681,792,540 - 81,796,789 (+)RGD
CHM1_1684,660,599 - 84,664,848 (+)NCBI
T2T-CHM13v2.0685,076,643 - 85,080,798 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001400899   ⟹   NP_001387828
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38683,853,605 - 83,857,515 (+)NCBI
T2T-CHM13v2.0685,076,888 - 85,080,798 (+)NCBI
RefSeq Acc Id: NM_001400900   ⟹   NP_001387829
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38683,853,229 - 83,857,515 (+)NCBI
T2T-CHM13v2.0685,076,512 - 85,080,798 (+)NCBI
RefSeq Acc Id: NR_103525
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38683,853,605 - 83,857,515 (+)NCBI
GRCh37684,562,985 - 84,567,234 (+)NCBI
HuRef681,792,540 - 81,796,789 (+)NCBI
CHM1_1684,660,876 - 84,664,848 (+)NCBI
T2T-CHM13v2.0685,076,888 - 85,080,798 (+)NCBI
Sequence:
RefSeq Acc Id: NR_174622
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38683,853,605 - 83,857,515 (+)NCBI
T2T-CHM13v2.0685,076,888 - 85,080,798 (+)NCBI
Reference Protein Sequences
RefSeq Acc Id: NP_001009994   ⟸   NM_001009994
- Peptide Label: isoform 1
- UniProtKB: Q5TAB6 (UniProtKB/Swiss-Prot),   Q5TAB7 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000358703   ⟸   ENST00000369689
RefSeq Acc Id: ENSP00000358701   ⟸   ENST00000369687
RefSeq Acc Id: NP_001387829   ⟸   NM_001400900
- Peptide Label: isoform 3
RefSeq Acc Id: NP_001387828   ⟸   NM_001400899
- Peptide Label: isoform 2

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q5TAB7-F1-model_v2 AlphaFold Q5TAB7 1-128 view protein structure

Promoters
RGD ID:7208597
Promoter ID:EPDNEW_H10044
Type:initiation region
Name:RIPPLY2_1
Description:ripply transcriptional repressor 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H10045  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38683,853,230 - 83,853,290EPDNEW
RGD ID:7208599
Promoter ID:EPDNEW_H10045
Type:initiation region
Name:RIPPLY2_2
Description:ripply transcriptional repressor 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H10044  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38683,853,360 - 83,853,420EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:21390 AgrOrtholog
COSMIC RIPPLY2 COSMIC
Ensembl Genes ENSG00000203877 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000369687 ENTREZGENE
  ENST00000369687.2 UniProtKB/Swiss-Prot
  ENST00000369689 ENTREZGENE
  ENST00000369689.6 UniProtKB/Swiss-Prot
GTEx ENSG00000203877 GTEx
HGNC ID HGNC:21390 ENTREZGENE
Human Proteome Map RIPPLY2 Human Proteome Map
InterPro Ripply_fam UniProtKB/Swiss-Prot
KEGG Report hsa:134701 UniProtKB/Swiss-Prot
NCBI Gene 134701 ENTREZGENE
OMIM 609891 OMIM
PANTHER PROTEIN RIPPLY2 UniProtKB/Swiss-Prot
  PTHR16770 UniProtKB/Swiss-Prot
Pfam Ripply UniProtKB/Swiss-Prot
PharmGKB PA162401349 PharmGKB
UniProt Q5TAB6 ENTREZGENE
  Q5TAB7 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary Q5TAB6 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2013-07-30 RIPPLY2  ripply transcriptional repressor 2    ripply2 homolog (zebrafish)  Symbol and/or name change 5135510 APPROVED