RHPN1 (rhophilin Rho GTPase binding protein 1) - Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Gene: RHPN1 (rhophilin Rho GTPase binding protein 1) Homo sapiens
Analyze
Symbol: RHPN1
Name: rhophilin Rho GTPase binding protein 1
RGD ID: 1313863
HGNC Page HGNC
Description: Predicted to be involved in signal transduction. Predicted to localize to cytosol; INTERACTS WITH 17beta-estradiol; acrylamide; antirheumatic drug.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: GTP-Rho-binding protein 1; KIAA1929; ODF5; outer dense fiber of sperm tails 5; rhophilin; rhophilin 1; rhophilin, Rho GTPase binding protein 1; rhophilin-1; RHPN
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
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
GRCh38.p13 Ensembl8143,368,876 - 143,384,221 (+)EnsemblGRCh38hg38GRCh38
GRCh388143,368,827 - 143,384,221 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh378144,451,046 - 144,466,391 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 368144,522,400 - 144,537,533 (+)NCBINCBI36hg18NCBI36
Build 348144,522,532 - 144,535,964NCBI
Celera8140,761,326 - 140,776,245 (+)NCBI
Cytogenetic Map8q24.3NCBI
HuRef8139,704,521 - 139,719,677 (+)NCBIHuRef
CHM1_18144,491,261 - 144,506,805 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

References

References - curated
1. GOA_HUMAN data from the GO Consortium
2. RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:10591629   PMID:11572484   PMID:12221077   PMID:12477932   PMID:14749388   PMID:15489334   PMID:16189514   PMID:19403673   PMID:21516116   PMID:25071083   PMID:25416956   PMID:28514442  
PMID:31391242   PMID:31515488   PMID:31741433   PMID:31980649   PMID:31982726   PMID:32296183   PMID:32814053  


Genomics

Comparative Map Data
RHPN1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8143,368,876 - 143,384,221 (+)EnsemblGRCh38hg38GRCh38
GRCh388143,368,827 - 143,384,221 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh378144,451,046 - 144,466,391 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 368144,522,400 - 144,537,533 (+)NCBINCBI36hg18NCBI36
Build 348144,522,532 - 144,535,964NCBI
Celera8140,761,326 - 140,776,245 (+)NCBI
Cytogenetic Map8q24.3NCBI
HuRef8139,704,521 - 139,719,677 (+)NCBIHuRef
CHM1_18144,491,261 - 144,506,805 (+)NCBICHM1_1
Rhpn1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391575,576,093 - 75,586,268 (+)NCBIGRCm39mm39
GRCm39 Ensembl1575,576,129 - 75,587,334 (+)Ensembl
GRCm381575,704,246 - 75,714,419 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1575,704,280 - 75,715,485 (+)EnsemblGRCm38mm10GRCm38
MGSCv371575,534,718 - 75,544,849 (+)NCBIGRCm37mm9NCBIm37
MGSCv361575,531,649 - 75,541,480 (+)NCBImm8
Celera1577,204,875 - 77,215,006 (+)NCBICelera
Cytogenetic Map15D3NCBI
Rhpn1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.27107,391,948 - 107,402,713 (+)NCBI
Rnor_6.0 Ensembl7116,739,062 - 116,748,715 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.07116,738,999 - 116,749,791 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.07116,631,562 - 116,642,335 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.47113,665,425 - 113,675,102 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.17113,699,000 - 113,709,127 (+)NCBI
Celera7103,753,891 - 103,764,620 (+)NCBICelera
Cytogenetic Map7q34NCBI
Rhpn1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554542,086,212 - 2,097,728 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554542,086,054 - 2,099,018 (+)NCBIChiLan1.0ChiLan1.0
RHPN1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.18143,126,560 - 143,150,235 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl8143,135,016 - 143,150,235 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v08140,115,455 - 140,131,070 (+)NCBIMhudiblu_PPA_v0panPan3
RHPN1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11337,081,527 - 37,090,628 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1337,046,923 - 37,090,922 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1337,033,326 - 37,043,196 (+)NCBI
ROS_Cfam_1.01337,552,809 - 37,562,692 (+)NCBI
UMICH_Zoey_3.11337,224,836 - 37,234,698 (+)NCBI
UNSW_CanFamBas_1.01337,343,369 - 37,353,204 (+)NCBI
UU_Cfam_GSD_1.01337,820,507 - 37,830,374 (+)NCBI
Rhpn1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244053031,292,238 - 1,303,536 (-)NCBI
SpeTri2.0NW_0049364708,718,341 - 8,730,668 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
RHPN1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl41,123,101 - 1,132,966 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.141,123,098 - 1,133,030 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.241,122,843 - 1,132,727 (+)NCBISscrofa10.2Sscrofa10.2susScr3
RHPN1
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.18137,591,656 - 137,604,616 (+)NCBI
ChlSab1.1 Ensembl8137,591,673 - 137,604,452 (+)Ensembl
Rhpn1
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473513,369,199 - 13,380,480 (-)NCBI

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2025
Count of miRNA genes:764
Interacting mature miRNAs:913
Transcripts:ENST00000289013, ENST00000522335, ENST00000522899
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


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 1
Medium 461 132 1041 137 530 38 1416 108 2910 245 911 1373 107 348 809
Low 1972 2741 673 477 1339 417 2545 1645 814 173 540 234 65 856 1597 5 2
Below cutoff 6 117 12 10 72 10 393 439 9 1 6 5 1 1 382 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_052924 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005250772 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005250773 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006716502 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011516817 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011516818 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011516819 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011516820 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011516821 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011516822 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011516823 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013013 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013014 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013015 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013016 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001745465 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB067516 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC087793 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC105118 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY082588 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC012135 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC025767 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX341691 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471162 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000289013   ⟹   ENSP00000289013
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,368,876 - 143,384,221 (+)Ensembl
RefSeq Acc Id: ENST00000522335
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,368,988 - 143,384,218 (+)Ensembl
RefSeq Acc Id: ENST00000522899
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,379,337 - 143,382,779 (+)Ensembl
RefSeq Acc Id: NM_052924   ⟹   NP_443156
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388143,368,876 - 143,384,221 (+)NCBI
GRCh378144,451,025 - 144,466,390 (+)RGD
Build 368144,522,400 - 144,537,533 (+)NCBI Archive
Celera8140,761,326 - 140,776,245 (+)RGD
HuRef8139,704,521 - 139,719,677 (+)ENTREZGENE
CHM1_18144,491,261 - 144,506,805 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005250772   ⟹   XP_005250829
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388143,368,828 - 143,384,220 (+)NCBI
GRCh378144,451,025 - 144,466,390 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005250773   ⟹   XP_005250830
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388143,368,828 - 143,384,220 (+)NCBI
GRCh378144,451,025 - 144,466,390 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006716502   ⟹   XP_006716565
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388143,368,828 - 143,384,220 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011516817   ⟹   XP_011515119
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388143,368,828 - 143,384,220 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011516818   ⟹   XP_011515120
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388143,369,830 - 143,384,220 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011516819   ⟹   XP_011515121
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388143,368,828 - 143,384,220 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011516820   ⟹   XP_011515122
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388143,373,731 - 143,384,220 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011516821   ⟹   XP_011515123
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388143,373,731 - 143,384,220 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011516822   ⟹   XP_011515124
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388143,369,081 - 143,384,220 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011516823   ⟹   XP_011515125
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388143,368,827 - 143,384,220 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017013013   ⟹   XP_016868502
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388143,368,827 - 143,384,220 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017013014   ⟹   XP_016868503
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388143,368,827 - 143,384,220 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017013015   ⟹   XP_016868504
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388143,369,083 - 143,384,220 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017013016   ⟹   XP_016868505
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388143,368,828 - 143,384,220 (+)NCBI
Sequence:
RefSeq Acc Id: XR_001745465
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388143,368,828 - 143,384,220 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_443156   ⟸   NM_052924
- UniProtKB: Q8TCX5 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005250829   ⟸   XM_005250772
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_005250830   ⟸   XM_005250773
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_006716565   ⟸   XM_006716502
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_011515125   ⟸   XM_011516823
- Peptide Label: isoform X10
- Sequence:
RefSeq Acc Id: XP_011515119   ⟸   XM_011516817
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011515121   ⟸   XM_011516819
- Peptide Label: isoform X7
- Sequence:
RefSeq Acc Id: XP_011515124   ⟸   XM_011516822
- Peptide Label: isoform X9
- Sequence:
RefSeq Acc Id: XP_011515120   ⟸   XM_011516818
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_011515123   ⟸   XM_011516821
- Peptide Label: isoform X9
- Sequence:
RefSeq Acc Id: XP_011515122   ⟸   XM_011516820
- Peptide Label: isoform X8
- Sequence:
RefSeq Acc Id: XP_016868503   ⟸   XM_017013014
- Peptide Label: isoform X11
- Sequence:
RefSeq Acc Id: XP_016868502   ⟸   XM_017013013
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: XP_016868505   ⟸   XM_017013016
- Peptide Label: isoform X13
- Sequence:
RefSeq Acc Id: XP_016868504   ⟸   XM_017013015
- Peptide Label: isoform X12
- Sequence:
RefSeq Acc Id: ENSP00000289013   ⟸   ENST00000289013
Protein Domains
BRO1   PDZ   REM-1

Promoters
RGD ID:7214347
Promoter ID:EPDNEW_H12919
Type:initiation region
Name:RHPN1_1
Description:rhophilin Rho GTPase binding protein 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12920  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh388143,368,876 - 143,368,936EPDNEW
RGD ID:7214349
Promoter ID:EPDNEW_H12920
Type:initiation region
Name:RHPN1_2
Description:rhophilin Rho GTPase binding protein 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12919  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh388143,368,996 - 143,369,056EPDNEW
RGD ID:6807018
Promoter ID:HG_KWN:62260
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_052924,   NR_026785
Position:
Human AssemblyChrPosition (strand)Source
Build 368144,522,111 - 144,522,962 (+)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 8q24.21-24.3(chr8:128220912-145049449)x3 copy number gain See cases [RCV000050830] Chr8:128220912..145049449 [GRCh38]
Chr8:129233158..146274835 [GRCh37]
Chr8:129302340..146245639 [NCBI36]
Chr8:8q24.21-24.3
pathogenic
GRCh38/hg38 8q23.3-24.3(chr8:113580402-145054634)x3 copy number gain See cases [RCV000050638] Chr8:113580402..145054634 [GRCh38]
Chr8:114592631..146280020 [GRCh37]
Chr8:114661807..146250824 [NCBI36]
Chr8:8q23.3-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:95606052-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|See cases [RCV000053677] Chr8:95606052..145054775 [GRCh38]
Chr8:96618280..146280161 [GRCh37]
Chr8:96687456..146250965 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3 copy number gain See cases [RCV000053678] Chr8:124514090..145054634 [GRCh38]
Chr8:125526331..146280020 [GRCh37]
Chr8:125595512..146250824 [NCBI36]
Chr8:8q24.13-24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:139447227-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053701]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053701]|See cases [RCV000053701] Chr8:139447227..145054775 [GRCh38]
Chr8:140459470..146280161 [GRCh37]
Chr8:140528652..146250965 [NCBI36]
Chr8:8q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 copy number gain not provided [RCV000848192] Chr8:31936551..146295771 [GRCh37]
Chr8:8p12-q24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3 copy number gain See cases [RCV000134353] Chr8:94682154..145068656 [GRCh38]
Chr8:95694382..146294042 [GRCh37]
Chr8:95763558..146264846 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:143329374-143531855)x3 copy number gain See cases [RCV000134350] Chr8:143329374..143531855 [GRCh38]
Chr8:144411544..144614025 [GRCh37]
Chr8:144482919..144685168 [NCBI36]
Chr8:8q24.3
uncertain significance
GRCh38/hg38 8q24.3(chr8:142201468-144002730)x1 copy number loss See cases [RCV000135981] Chr8:142201468..144002730 [GRCh38]
Chr8:143282829..145076898 [GRCh37]
Chr8:143280736..145148886 [NCBI36]
Chr8:8q24.3
pathogenic
GRCh38/hg38 8q24.22-24.3(chr8:130639182-145068712)x3 copy number gain See cases [RCV000137644] Chr8:130639182..145068712 [GRCh38]
Chr8:131651428..146294098 [GRCh37]
Chr8:131720610..146264902 [NCBI36]
Chr8:8q24.22-24.3
pathogenic|conflicting data from submitters
GRCh38/hg38 8q24.3(chr8:139236824-145068712)x3 copy number gain See cases [RCV000137466] Chr8:139236824..145068712 [GRCh38]
Chr8:140249067..146294098 [GRCh37]
Chr8:140318249..146264902 [NCBI36]
Chr8:8q24.3
likely pathogenic
GRCh38/hg38 8q24.3(chr8:139004218-145049449)x3 copy number gain See cases [RCV000137340] Chr8:139004218..145049449 [GRCh38]
Chr8:140016461..146274835 [GRCh37]
Chr8:140085643..146245639 [NCBI36]
Chr8:8q24.3
likely pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124498498-145068712)x3 copy number gain See cases [RCV000137346] Chr8:124498498..145068712 [GRCh38]
Chr8:125510739..146294098 [GRCh37]
Chr8:125579920..146264902 [NCBI36]
Chr8:8q24.13-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3 copy number gain See cases [RCV000138551] Chr8:87931152..145068712 [GRCh38]
Chr8:88943380..146294098 [GRCh37]
Chr8:89012496..146264902 [NCBI36]
Chr8:8q21.3-24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3 copy number gain See cases [RCV000139036] Chr8:77480050..145068712 [GRCh38]
Chr8:78392286..146294098 [GRCh37]
Chr8:78554841..146264902 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3 copy number gain See cases [RCV000140447] Chr8:97382873..145070385 [GRCh38]
Chr8:98395101..146295771 [GRCh37]
Chr8:98464277..146266575 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:141738068-144140607)x1 copy number loss See cases [RCV000140913] Chr8:141738068..144140607 [GRCh38]
Chr8:142764538..145195510 [GRCh37]
Chr8:142823655..145267498 [NCBI36]
Chr8:8q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3 copy number gain See cases [RCV000141694] Chr8:100867343..145070385 [GRCh38]
Chr8:101879571..146295771 [GRCh37]
Chr8:101948747..146266575 [NCBI36]
Chr8:8q22.3-24.3
pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 copy number gain See cases [RCV000142021] Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3
pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3 copy number gain See cases [RCV000142810] Chr8:103306336..145068712 [GRCh38]
Chr8:104318564..146294098 [GRCh37]
Chr8:104387740..146264902 [NCBI36]
Chr8:8q22.3-24.3
pathogenic|likely pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3 copy number gain See cases [RCV000142597] Chr8:78614077..145054634 [GRCh38]
Chr8:79526312..146280020 [GRCh37]
Chr8:79688867..146250824 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3 copy number gain See cases [RCV000143659] Chr8:85765999..145070385 [GRCh38]
Chr8:86778228..146295771 [GRCh37]
Chr8:86863079..146266575 [NCBI36]
Chr8:8q21.2-24.3
pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3 copy number gain See cases [RCV000148117] Chr8:124514090..145054634 [GRCh38]
Chr8:125526331..146280020 [GRCh37]
Chr8:125595512..146250824 [NCBI36]
Chr8:8q24.13-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:144444145-144466341)x1 copy number loss See cases [RCV000447619] Chr8:144444145..144466341 [GRCh37]
Chr8:8q24.3
likely benign
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q22.1-24.3(chr8:98432250-146222672)x4 copy number gain See cases [RCV000448954] Chr8:98432250..146222672 [GRCh37]
Chr8:8q22.1-24.3
pathogenic
GRCh37/hg19 8q24.22-24.3(chr8:134825277-146280828)x3 copy number gain See cases [RCV000448348] Chr8:134825277..146280828 [GRCh37]
Chr8:8q24.22-24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q24.22-24.3(chr8:136378789-146295771)x3 copy number gain See cases [RCV000512003] Chr8:136378789..146295771 [GRCh37]
Chr8:8q24.22-24.3
likely pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3 copy number gain See cases [RCV000511002] Chr8:86841154..146295771 [GRCh37]
Chr8:8q21.2-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:142840194-146280020) copy number gain Intellectual disability [RCV000626547] Chr8:142840194..146280020 [GRCh37]
Chr8:8q24.3
pathogenic
GRCh37/hg19 8q23.3-24.3(chr8:114853126-146295771)x3 copy number gain See cases [RCV000512401] Chr8:114853126..146295771 [GRCh37]
Chr8:8q23.3-24.3
pathogenic
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:143815037-146295771)x3 copy number gain not provided [RCV000683020] Chr8:143815037..146295771 [GRCh37]
Chr8:8q24.3
pathogenic
GRCh37/hg19 8q24.12-24.3(chr8:121694649-146295771)x3 copy number gain not provided [RCV000683044] Chr8:121694649..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:144056476-144733805)x1 copy number loss not provided [RCV000747921] Chr8:144056476..144733805 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:144411767-144510467)x3 copy number gain not provided [RCV000747934] Chr8:144411767..144510467 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:144446285-144468438)x1 copy number loss not provided [RCV000747935] Chr8:144446285..144468438 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:142132678-145569441)x1 copy number loss not provided [RCV001006150] Chr8:142132678..145569441 [GRCh37]
Chr8:8q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q24.23-24.3(chr8:139188797-146295771)x3 copy number gain not provided [RCV000846814] Chr8:139188797..146295771 [GRCh37]
Chr8:8q24.23-24.3
pathogenic
GRCh37/hg19 8q24.22-24.3(chr8:136059859-146295771)x3 copy number gain not provided [RCV000847171] Chr8:136059859..146295771 [GRCh37]
Chr8:8q24.22-24.3
pathogenic
GRCh37/hg19 8q24.12-24.3(chr8:122193546-146295771)x3 copy number gain not provided [RCV000849762] Chr8:122193546..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
GRCh37/hg19 8q24.12-24.3(chr8:121042467-146295771)x3 copy number gain not provided [RCV001006140] Chr8:121042467..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:144190206-146295771)x3 copy number gain not provided [RCV000847854] Chr8:144190206..146295771 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8q24.3(chr8:143616831-144930611)x1 copy number loss not provided [RCV001006152] Chr8:143616831..144930611 [GRCh37]
Chr8:8q24.3
pathogenic
GRCh37/hg19 8q24.13-24.3(chr8:125496223-146295771)x3 copy number gain not provided [RCV000845705] Chr8:125496223..146295771 [GRCh37]
Chr8:8q24.13-24.3
pathogenic
NM_052924.3(RHPN1):c.159C>T (p.Gly53=) single nucleotide variant not provided [RCV000888247] Chr8:143375651 [GRCh38]
Chr8:144457821 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.21-24.3(chr8:128877995-146295771)x3 copy number gain not provided [RCV001006146] Chr8:128877995..146295771 [GRCh37]
Chr8:8q24.21-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:144320365-144624272)x3 copy number gain not provided [RCV001006154] Chr8:144320365..144624272 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8q24.3(chr8:143570920-144459613)x1 copy number loss not provided [RCV001006151] Chr8:143570920..144459613 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8q24.3(chr8:144262042-146295771)x3 copy number gain not provided [RCV001259034] Chr8:144262042..146295771 [GRCh37]
Chr8:8q24.3
likely pathogenic
GRCh37/hg19 8q24.3(chr8:144285728-144534781)x3 copy number gain not provided [RCV001259511] Chr8:144285728..144534781 [GRCh37]
Chr8:8q24.3
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:19973 AgrOrtholog
COSMIC RHPN1 COSMIC
Ensembl Genes ENSG00000158106 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000289013 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000289013 ENTREZGENE, UniProtKB/Swiss-Prot
Gene3D-CATH 1.25.40.280 UniProtKB/Swiss-Prot
  2.30.42.10 UniProtKB/Swiss-Prot
GTEx ENSG00000158106 GTEx
HGNC ID HGNC:19973 ENTREZGENE
Human Proteome Map RHPN1 Human Proteome Map
InterPro BRO1_dom UniProtKB/Swiss-Prot
  BRO1_sf UniProtKB/Swiss-Prot
  HR1_rho-bd UniProtKB/Swiss-Prot
  HR1_rpt_sf UniProtKB/Swiss-Prot
  PDZ UniProtKB/Swiss-Prot
  PDZ_sf UniProtKB/Swiss-Prot
  Rhophilin-1_BRO1 UniProtKB/Swiss-Prot
KEGG Report hsa:114822 UniProtKB/Swiss-Prot
NCBI Gene 114822 ENTREZGENE
OMIM 601031 OMIM
Pfam BRO1 UniProtKB/Swiss-Prot
  HR1 UniProtKB/Swiss-Prot
  PDZ UniProtKB/Swiss-Prot
PharmGKB PA134987144 PharmGKB
PROSITE BRO1 UniProtKB/Swiss-Prot
  PDZ UniProtKB/Swiss-Prot
  REM_1 UniProtKB/Swiss-Prot
SMART BRO1 UniProtKB/Swiss-Prot
  Hr1 UniProtKB/Swiss-Prot
  PDZ UniProtKB/Swiss-Prot
Superfamily-SCOP SSF46585 UniProtKB/Swiss-Prot
  SSF50156 UniProtKB/Swiss-Prot
UniProt Q8TCX5 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary Q8TAV1 UniProtKB/Swiss-Prot
  Q96PV9 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-07-05 RHPN1  rhophilin Rho GTPase binding protein 1    rhophilin, Rho GTPase binding protein 1  Symbol and/or name change 5135510 APPROVED