PRAP1 (proline rich acidic protein 1) - Rat Genome Database

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Gene: PRAP1 (proline rich acidic protein 1) Homo sapiens
Analyze
Symbol: PRAP1
Name: proline rich acidic protein 1
RGD ID: 1354045
HGNC Page HGNC
Description: Predicted to enable triglyceride binding activity. Involved in DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest; deactivation of mitotic spindle assembly checkpoint; and negative regulation of apoptotic process. Predicted to be located in endoplasmic reticulum and extracellular region; INTERACTS WITH 2,2',4,4',5,5'-hexachlorobiphenyl; 2,3,7,8-tetrachlorodibenzodioxine; aflatoxin B1.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: epididymis tissue protein Li 178; MGC126792; PRO1195; proline-rich acidic protein 1; RP11-122K13.6; UPA
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 Ensembl10133,347,368 - 133,352,683 (+)EnsemblGRCh38hg38GRCh38
GRCh3810133,347,373 - 133,352,683 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh3710135,160,877 - 135,166,187 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3610135,010,901 - 135,016,177 (+)NCBINCBI36hg18NCBI36
Build 3410135,049,791 - 135,055,068NCBI
Celera10128,351,341 - 128,356,680 (-)NCBI
Cytogenetic Map10q26.3NCBI
HuRef10128,704,994 - 128,710,302 (+)NCBIHuRef
CHM1_110135,442,819 - 135,448,127 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

References

References - curated
1. RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:9065197   PMID:12477932   PMID:12975309   PMID:14583459   PMID:17207965   PMID:18624398   PMID:20674898   PMID:20736409   PMID:21516116   PMID:23235459   PMID:24374861   PMID:25416956  
PMID:26186194   PMID:28514442   PMID:29886035   PMID:32296183  


Genomics

Comparative Map Data
PRAP1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl10133,347,368 - 133,352,683 (+)EnsemblGRCh38hg38GRCh38
GRCh3810133,347,373 - 133,352,683 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh3710135,160,877 - 135,166,187 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3610135,010,901 - 135,016,177 (+)NCBINCBI36hg18NCBI36
Build 3410135,049,791 - 135,055,068NCBI
Celera10128,351,341 - 128,356,680 (-)NCBI
Cytogenetic Map10q26.3NCBI
HuRef10128,704,994 - 128,710,302 (+)NCBIHuRef
CHM1_110135,442,819 - 135,448,127 (+)NCBICHM1_1
Prap1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm397139,673,309 - 139,677,116 (+)NCBIGRCm39mm39
GRCm39 Ensembl7139,673,308 - 139,677,113 (+)Ensembl
GRCm387140,093,396 - 140,097,203 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl7140,093,395 - 140,097,200 (+)EnsemblGRCm38mm10GRCm38
MGSCv377147,279,295 - 147,283,102 (+)NCBIGRCm37mm9NCBIm37
MGSCv367139,944,718 - 139,948,517 (+)NCBImm8
Celera7139,891,394 - 139,895,266 (+)NCBICelera
Cytogenetic Map7F4NCBI
Prap1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21194,883,078 - 194,886,874 (+)NCBImRatBN7.2
Rnor_6.0 Ensembl1212,558,257 - 212,562,051 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.01212,558,257 - 212,562,053 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01219,472,906 - 219,476,702 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41199,889,629 - 199,893,425 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11200,039,620 - 200,043,415 (+)NCBI
Celera1192,560,142 - 192,563,938 (+)NCBICelera
Cytogenetic Map1q41NCBI
Prap1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_00495547710,982,530 - 11,002,747 (+)NCBIChiLan1.0ChiLan1.0
PRAP1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.110134,248,728 - 134,268,442 (+)NCBIpanpan1.1PanPan1.1panPan2
PRAP1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12840,927,744 - 40,931,355 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2840,982,768 - 40,986,442 (+)NCBI
ROS_Cfam_1.02841,562,642 - 41,566,316 (+)NCBI
UMICH_Zoey_3.12841,046,731 - 41,050,405 (+)NCBI
UNSW_CanFamBas_1.02841,036,325 - 41,039,999 (+)NCBI
UU_Cfam_GSD_1.02841,439,226 - 41,442,900 (+)NCBI
Prap1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244072136,080,911 - 6,090,531 (-)NCBI
SpeTri2.0NW_00493648619,477,278 - 19,480,387 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PRAP1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.114141,325,965 - 141,329,955 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.214153,794,810 - 153,798,712 (-)NCBISscrofa10.2Sscrofa10.2susScr3
PRAP1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12653,195,600 - 53,201,846 (+)NCBI
Vero_WHO_p1.0NW_02366605441,331,491 - 41,337,643 (+)NCBI
Prap1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473713,346,621 - 13,350,428 (-)NCBI

miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR181A2hsa-miR-181a-5pMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI21779487
MIR181A1hsa-miR-181a-5pMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI21779487
MIR193Bhsa-miR-193b-3pMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI21779487
MIR193Ahsa-miR-193a-3pMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI21779487
MIR23Bhsa-miR-23b-3pMirtarbaseexternal_infoReporter assay;Western blot;qRT-PCRFunctional MTI19490101

Predicted Target Of
Summary Value
Count of predictions:1283
Count of miRNA genes:395
Interacting mature miRNAs:425
Transcripts:ENST00000423766, ENST00000433452, ENST00000458230, ENST00000463201
Prediction methods:Miranda, Rnahybrid
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 adipose tissue appendage entire extraembryonic component pharyngeal arch
High 29 2 2 29 2
Medium 487 10 421 420 133 418 446 4 444 180 369 5 2 3 443
Low 882 907 677 140 572 30 1801 394 1616 122 726 849 110 662 825 1 2
Below cutoff 1000 1905 586 55 772 10 1883 1557 1582 71 326 671 59 529 1327 3

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001145201 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_145202 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF123768 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF421885 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL360181 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY158074 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY358908 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC029447 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC061643 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC071872 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC093853 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC101743 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC143590 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC143591 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC143592 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471211 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ884405 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GQ891511 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GU727628 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000433452   ⟹   ENSP00000416126
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl10133,347,373 - 133,352,683 (+)Ensembl
RefSeq Acc Id: ENST00000463201   ⟹   ENSP00000486265
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl10133,347,368 - 133,352,548 (+)Ensembl
RefSeq Acc Id: NM_001145201   ⟹   NP_001138673
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810133,347,373 - 133,352,683 (+)NCBI
GRCh3710135,148,362 - 135,166,187 (+)NCBI
Celera10128,351,341 - 128,356,680 (-)RGD
HuRef10128,704,994 - 128,710,302 (+)RGD
CHM1_110135,442,819 - 135,448,127 (+)NCBI
Sequence:
RefSeq Acc Id: NM_145202   ⟹   NP_660203
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810133,347,373 - 133,352,683 (+)NCBI
GRCh3710135,148,362 - 135,166,187 (+)NCBI
Build 3610135,010,901 - 135,016,177 (+)NCBI Archive
Celera10128,351,341 - 128,356,680 (-)RGD
HuRef10128,704,994 - 128,710,302 (+)RGD
CHM1_110135,442,819 - 135,448,127 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001138673   ⟸   NM_001145201
- Peptide Label: isoform 2 precursor
- UniProtKB: Q96NZ9 (UniProtKB/Swiss-Prot),   A6XND8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_660203   ⟸   NM_145202
- Peptide Label: isoform 1 precursor
- UniProtKB: Q96NZ9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000486265   ⟸   ENST00000463201
RefSeq Acc Id: ENSP00000416126   ⟸   ENST00000433452

Promoters
RGD ID:7219061
Promoter ID:EPDNEW_H15276
Type:initiation region
Name:PRAP1_1
Description:proline rich acidic protein 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810133,347,373 - 133,347,433EPDNEW
RGD ID:6788008
Promoter ID:HG_KWN:11756
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   Lymphoblastoid,   NB4
Transcripts:NM_001145201,   OTTHUMT00000051132
Position:
Human AssemblyChrPosition (strand)Source
Build 3610135,010,091 - 135,011,042 (+)MPROMDB
RGD ID:6788363
Promoter ID:HG_KWN:11757
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:UC001LMQ.1,   UC001LMR.1
Position:
Human AssemblyChrPosition (strand)Source
Build 3610135,012,836 - 135,013,732 (+)MPROMDB
RGD ID:6788011
Promoter ID:HG_KWN:11759
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000051133
Position:
Human AssemblyChrPosition (strand)Source
Build 3610135,013,886 - 135,015,337 (+)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 10q25.2-26.3(chr10:111313099-133620674)x3 copy number gain See cases [RCV000051218] Chr10:111313099..133620674 [GRCh38]
Chr10:113072857..135434178 [GRCh37]
Chr10:113062847..135284168 [NCBI36]
Chr10:10q25.2-26.3
pathogenic
GRCh38/hg38 10q26.12-26.3(chr10:120454430-133620674)x1 copy number loss See cases [RCV000051103] Chr10:120454430..133620674 [GRCh38]
Chr10:122213942..135434178 [GRCh37]
Chr10:122203932..135284168 [NCBI36]
Chr10:10q26.12-26.3
pathogenic
GRCh38/hg38 10q26.13-26.3(chr10:123307835-133620674)x1 copy number loss See cases [RCV000051150] Chr10:123307835..133620674 [GRCh38]
Chr10:125067351..135434178 [GRCh37]
Chr10:125057341..135284168 [NCBI36]
Chr10:10q26.13-26.3
pathogenic
GRCh38/hg38 10q26.3(chr10:133001134-133620674)x1 copy number loss See cases [RCV000051165] Chr10:133001134..133620674 [GRCh38]
Chr10:134814638..135434178 [GRCh37]
Chr10:134664628..135284168 [NCBI36]
Chr10:10q26.3
uncertain significance
GRCh38/hg38 10q26.3(chr10:131457361-133620674)x1 copy number loss See cases [RCV000050997] Chr10:131457361..133620674 [GRCh38]
Chr10:133255624..135434178 [GRCh37]
Chr10:133145614..135284168 [NCBI36]
Chr10:10q26.3
pathogenic
GRCh38/hg38 10q26.13-26.3(chr10:122265252-133620674)x1 copy number loss See cases [RCV000051069] Chr10:122265252..133620674 [GRCh38]
Chr10:124024767..135434178 [GRCh37]
Chr10:124014757..135284168 [NCBI36]
Chr10:10q26.13-26.3
pathogenic
GRCh38/hg38 10q26.3(chr10:132445383-133398465)x3 copy number gain See cases [RCV000051692] Chr10:132445383..133398465 [GRCh38]
Chr10:134258887..135211969 [GRCh37]
Chr10:134108877..135061959 [NCBI36]
Chr10:10q26.3
uncertain significance
GRCh38/hg38 10q26.3(chr10:131914873-133613938)x1 copy number loss See cases [RCV000052643] Chr10:131914873..133613938 [GRCh38]
Chr10:133728377..135427442 [GRCh37]
Chr10:133578367..135277432 [NCBI36]
Chr10:10q26.3
pathogenic
GRCh38/hg38 10q26.3(chr10:132475849-133620674)x1 copy number loss See cases [RCV000052644] Chr10:132475849..133620674 [GRCh38]
Chr10:134289353..135434178 [GRCh37]
Chr10:134139343..135284168 [NCBI36]
Chr10:10q26.3
pathogenic
GRCh38/hg38 10q26.2-26.3(chr10:126256585-133613938)x1 copy number loss See cases [RCV000052612] Chr10:126256585..133613938 [GRCh38]
Chr10:127945154..135427442 [GRCh37]
Chr10:127935144..135277432 [NCBI36]
Chr10:10q26.2-26.3
pathogenic
GRCh38/hg38 10q26.2-26.3(chr10:127500483-133620674)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052613]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052613]|See cases [RCV000052613] Chr10:127500483..133620674 [GRCh38]
Chr10:129298747..135434178 [GRCh37]
Chr10:129188737..135284168 [NCBI36]
Chr10:10q26.2-26.3
pathogenic
GRCh38/hg38 10q26.3(chr10:129673966-133613938)x1 copy number loss See cases [RCV000052614] Chr10:129673966..133613938 [GRCh38]
Chr10:131472230..135427442 [GRCh37]
Chr10:131362220..135277432 [NCBI36]
Chr10:10q26.3
pathogenic
GRCh38/hg38 10q26.3(chr10:129758596-133620674)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052615]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052615]|See cases [RCV000052615] Chr10:129758596..133620674 [GRCh38]
Chr10:131556860..135434178 [GRCh37]
Chr10:131446850..135284168 [NCBI36]
Chr10:10q26.3
pathogenic
GRCh38/hg38 10q26.13-26.3(chr10:123580320-133558988)x1 copy number loss See cases [RCV000052611] Chr10:123580320..133558988 [GRCh38]
Chr10:125339836..135372492 [GRCh37]
Chr10:125329826..135222482 [NCBI36]
Chr10:10q26.13-26.3
pathogenic
GRCh38/hg38 10q23.31-26.3(chr10:91048545-133620674)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053560]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053560]|See cases [RCV000053560] Chr10:91048545..133620674 [GRCh38]
Chr10:92808302..135434178 [GRCh37]
Chr10:92798282..135284168 [NCBI36]
Chr10:10q23.31-26.3
pathogenic
GRCh38/hg38 10q25.1-26.3(chr10:106925303-133620815)x3 copy number gain See cases [RCV000053588] Chr10:106925303..133620815 [GRCh38]
Chr10:108685061..135434319 [GRCh37]
Chr10:108675051..135284309 [NCBI36]
Chr10:10q25.1-26.3
pathogenic
GRCh38/hg38 10q26.11-26.3(chr10:117866565-133554210)x3 copy number gain See cases [RCV000053589] Chr10:117866565..133554210 [GRCh38]
Chr10:119626076..135367714 [GRCh37]
Chr10:119616066..135217704 [NCBI36]
Chr10:10q26.11-26.3
pathogenic
GRCh37/hg19 10q26.3(chr10:134609699-135167875)x3 copy number gain See cases [RCV000663392] Chr10:134609699..135167875 [GRCh37]
Chr10:10q26.3
uncertain significance
GRCh37/hg19 10q25.2-26.3(chr10:114544537-135427143)x3 copy number gain not provided [RCV000847820] Chr10:114544537..135427143 [GRCh37]
Chr10:10q25.2-26.3
pathogenic
GRCh38/hg38 10q25.1-26.3(chr10:108102587-133620674)x3 copy number gain See cases [RCV000133688] Chr10:108102587..133620674 [GRCh38]
Chr10:109862345..135434178 [GRCh37]
Chr10:109852335..135284168 [NCBI36]
Chr10:10q25.1-26.3
pathogenic
GRCh38/hg38 10q26.13-26.3(chr10:125657472-133620674)x1 copy number loss See cases [RCV000133741] Chr10:125657472..133620674 [GRCh38]
Chr10:127346041..135434178 [GRCh37]
Chr10:127336031..135284168 [NCBI36]
Chr10:10q26.13-26.3
pathogenic
GRCh38/hg38 10q26.3(chr10:133134279-133400512)x1 copy number loss See cases [RCV000134391] Chr10:133134279..133400512 [GRCh38]
Chr10:134947783..135214016 [GRCh37]
Chr10:134797773..135064006 [NCBI36]
Chr10:10q26.3
benign
GRCh38/hg38 10q26.2-26.3(chr10:126730896-133620609)x1 copy number loss See cases [RCV000134040] Chr10:126730896..133620609 [GRCh38]
Chr10:128419465..135434113 [GRCh37]
Chr10:128409455..135284103 [NCBI36]
Chr10:10q26.2-26.3
pathogenic
GRCh38/hg38 10q26.3(chr10:132178475-133620674)x1 copy number loss See cases [RCV000135399] Chr10:132178475..133620674 [GRCh38]
Chr10:133991979..135434178 [GRCh37]
Chr10:133841969..135284168 [NCBI36]
Chr10:10q26.3
pathogenic
GRCh38/hg38 10q26.3(chr10:129549258-133620674)x1 copy number loss See cases [RCV000135547] Chr10:129549258..133620674 [GRCh38]
Chr10:131347522..135434178 [GRCh37]
Chr10:131237512..135284168 [NCBI36]
Chr10:10q26.3
pathogenic|likely benign
GRCh38/hg38 10q26.13-26.3(chr10:124473108-133620609)x1 copy number loss See cases [RCV000136028] Chr10:124473108..133620609 [GRCh38]
Chr10:126161677..135434113 [GRCh37]
Chr10:126151667..135284103 [NCBI36]
Chr10:10q26.13-26.3
pathogenic
GRCh38/hg38 10q26.3(chr10:128872419-133564028)x3 copy number gain See cases [RCV000136888] Chr10:128872419..133564028 [GRCh38]
Chr10:130670683..135377532 [GRCh37]
Chr10:130560673..135227522 [NCBI36]
Chr10:10q26.3
pathogenic
GRCh38/hg38 10q26.13-26.3(chr10:124834858-133622588)x1 copy number loss See cases [RCV000137653] Chr10:124834858..133622588 [GRCh38]
Chr10:126523427..135436092 [GRCh37]
Chr10:126513417..135286082 [NCBI36]
Chr10:10q26.13-26.3
pathogenic
GRCh38/hg38 10q26.2-26.3(chr10:128549913-133622588)x1 copy number loss See cases [RCV000138159] Chr10:128549913..133622588 [GRCh38]
Chr10:130348177..135436092 [GRCh37]
Chr10:130238167..135286082 [NCBI36]
Chr10:10q26.2-26.3
pathogenic|uncertain significance
GRCh38/hg38 10q26.2-26.3(chr10:127849717-133622588)x1 copy number loss See cases [RCV000138160] Chr10:127849717..133622588 [GRCh38]
Chr10:129647981..135436092 [GRCh37]
Chr10:129537971..135286082 [NCBI36]
Chr10:10q26.2-26.3
pathogenic|likely benign
GRCh38/hg38 10q24.31-26.3(chr10:100600492-133622588)x3 copy number gain See cases [RCV000137747] Chr10:100600492..133622588 [GRCh38]
Chr10:102360249..135436092 [GRCh37]
Chr10:102350239..135286082 [NCBI36]
Chr10:10q24.31-26.3
pathogenic
GRCh38/hg38 10q26.3(chr10:129427520-133622588)x1 copy number loss See cases [RCV000137959] Chr10:129427520..133622588 [GRCh38]
Chr10:131225784..135436092 [GRCh37]
Chr10:131115774..135286082 [NCBI36]
Chr10:10q26.3
pathogenic
GRCh38/hg38 10q26.3(chr10:132962729-133622588)x1 copy number loss See cases [RCV000138257] Chr10:132962729..133622588 [GRCh38]
Chr10:134776233..135436092 [GRCh37]
Chr10:134626223..135286082 [NCBI36]
Chr10:10q26.3
pathogenic|uncertain significance
GRCh38/hg38 10q26.13-26.3(chr10:122881207-133620609)x1 copy number loss See cases [RCV000138435] Chr10:122881207..133620609 [GRCh38]
Chr10:124640723..135434113 [GRCh37]
Chr10:124630713..135284103 [NCBI36]
Chr10:10q26.13-26.3
pathogenic
GRCh38/hg38 10q26.12-26.3(chr10:120970558-133622588)x1 copy number loss See cases [RCV000139344] Chr10:120970558..133622588 [GRCh38]
Chr10:122730071..135436092 [GRCh37]
Chr10:122720061..135286082 [NCBI36]
Chr10:10q26.12-26.3
pathogenic
GRCh38/hg38 10q26.3(chr10:133001075-133622588)x3 copy number gain See cases [RCV000139912] Chr10:133001075..133622588 [GRCh38]
Chr10:134814579..135436092 [GRCh37]
Chr10:134664569..135286082 [NCBI36]
Chr10:10q26.3
uncertain significance
GRCh38/hg38 10q26.13-26.3(chr10:125021995-133620609)x1 copy number loss See cases [RCV000139588] Chr10:125021995..133620609 [GRCh38]
Chr10:126710564..135434113 [GRCh37]
Chr10:126700554..135284103 [NCBI36]
Chr10:10q26.13-26.3
pathogenic
GRCh38/hg38 10q26.13-26.3(chr10:125452905-133785874)x3 copy number gain See cases [RCV000141337] Chr10:125452905..133785874 [GRCh38]
Chr10:127141474..135523199 [GRCh37]
Chr10:127131464..135373189 [NCBI36]
Chr10:10q26.13-26.3
pathogenic
GRCh38/hg38 10q26.2-26.3(chr10:127664168-133622588)x3 copy number gain See cases [RCV000140974] Chr10:127664168..133622588 [GRCh38]
Chr10:129462432..135436092 [GRCh37]
Chr10:129352422..135286082 [NCBI36]
Chr10:10q26.2-26.3
likely pathogenic
GRCh38/hg38 10q26.3(chr10:133059029-133622588)x3 copy number gain See cases [RCV000140708] Chr10:133059029..133622588 [GRCh38]
Chr10:134872533..135436092 [GRCh37]
Chr10:134722523..135286082 [NCBI36]
Chr10:10q26.3
uncertain significance
GRCh38/hg38 10q26.11-26.3(chr10:119707856-133613639)x3 copy number gain See cases [RCV000142005] Chr10:119707856..133613639 [GRCh38]
Chr10:121467368..135427143 [GRCh37]
Chr10:121457358..135277133 [NCBI36]
Chr10:10q26.11-26.3
pathogenic
GRCh38/hg38 10q26.13-26.3(chr10:121588992-133620674)x1 copy number loss See cases [RCV000142441] Chr10:121588992..133620674 [GRCh38]
Chr10:123348506..135434178 [GRCh37]
Chr10:123338496..135284168 [NCBI36]
Chr10:10q26.13-26.3
pathogenic
GRCh38/hg38 10q26.13-26.3(chr10:121918547-133620674)x1 copy number loss See cases [RCV000142737] Chr10:121918547..133620674 [GRCh38]
Chr10:123678062..135434178 [GRCh37]
Chr10:123668052..135284168 [NCBI36]
Chr10:10q26.13-26.3
pathogenic
GRCh38/hg38 10q26.2-26.3(chr10:127435985-133622588)x1 copy number loss See cases [RCV000143241] Chr10:127435985..133622588 [GRCh38]
Chr10:129234249..135436092 [GRCh37]
Chr10:129124239..135286082 [NCBI36]
Chr10:10q26.2-26.3
pathogenic
GRCh38/hg38 10q26.3(chr10:131424682-133613639)x1 copy number loss See cases [RCV000143762] Chr10:131424682..133613639 [GRCh38]
Chr10:133222945..135427143 [GRCh37]
Chr10:133112935..135277133 [NCBI36]
Chr10:10q26.3
likely pathogenic
GRCh38/hg38 10q26.13-26.3(chr10:123986772-133613639)x1 copy number loss See cases [RCV000143623] Chr10:123986772..133613639 [GRCh38]
Chr10:125746288..135427143 [GRCh37]
Chr10:125736278..135277133 [NCBI36]
Chr10:10q26.13-26.3
pathogenic
GRCh38/hg38 10q26.13-26.3(chr10:123576393-133613639)x1 copy number loss See cases [RCV000143544] Chr10:123576393..133613639 [GRCh38]
Chr10:125335909..135427143 [GRCh37]
Chr10:125325899..135277133 [NCBI36]
Chr10:10q26.13-26.3
pathogenic
GRCh38/hg38 10q26.3(chr10:130625650-133613639)x1 copy number loss See cases [RCV000143554] Chr10:130625650..133613639 [GRCh38]
Chr10:132423914..135427143 [GRCh37]
Chr10:132313904..135277133 [NCBI36]
Chr10:10q26.3
uncertain significance
GRCh38/hg38 10q26.2-26.3(chr10:126794646-133613639)x1 copy number loss See cases [RCV000143615] Chr10:126794646..133613639 [GRCh38]
Chr10:128483215..135427143 [GRCh37]
Chr10:128473205..135277133 [NCBI36]
Chr10:10q26.2-26.3
pathogenic
GRCh37/hg19 10q26.13-26.3(chr10:123731209-135353867)x1 copy number loss See cases [RCV000203440] Chr10:123731209..135353867 [GRCh37]
Chr10:10q26.13-26.3
pathogenic|likely pathogenic
GRCh37/hg19 10q24.32-26.3(chr10:103288313-135512075)x3 copy number gain See cases [RCV000240457] Chr10:103288313..135512075 [GRCh37]
Chr10:10q24.32-26.3
pathogenic
GRCh37/hg19 10q26.13-26.3(chr10:124147428-135370736)x1 copy number loss See cases [RCV000449336] Chr10:124147428..135370736 [GRCh37]
Chr10:10q26.13-26.3
pathogenic
GRCh37/hg19 10q24.32-26.3(chr10:104633712-135427143)x3 copy number gain See cases [RCV000449386] Chr10:104633712..135427143 [GRCh37]
Chr10:10q24.32-26.3
pathogenic
GRCh37/hg19 10q26.12-26.3(chr10:122343861-135427143)x1 copy number loss See cases [RCV000446095] Chr10:122343861..135427143 [GRCh37]
Chr10:10q26.12-26.3
pathogenic
GRCh37/hg19 10q24.2-26.3(chr10:100780957-135427143)x3 copy number gain See cases [RCV000446733] Chr10:100780957..135427143 [GRCh37]
Chr10:10q24.2-26.3
pathogenic
GRCh37/hg19 10q26.2-26.3(chr10:128465436-135427143)x1 copy number loss See cases [RCV000447132] Chr10:128465436..135427143 [GRCh37]
Chr10:10q26.2-26.3
pathogenic
GRCh37/hg19 10q26.3(chr10:132468363-135367666)x1 copy number loss See cases [RCV000446777] Chr10:132468363..135367666 [GRCh37]
Chr10:10q26.3
pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3 copy number gain See cases [RCV000448750] Chr10:93297..135378918 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic
GRCh37/hg19 10q26.3(chr10:133965613-135427143)x1 copy number loss See cases [RCV000448088] Chr10:133965613..135427143 [GRCh37]
Chr10:10q26.3
uncertain significance
GRCh37/hg19 10q26.3(chr10:134593406-135427143)x1 copy number loss See cases [RCV000510608] Chr10:134593406..135427143 [GRCh37]
Chr10:10q26.3
uncertain significance
GRCh37/hg19 10q26.3(chr10:132354150-135427143)x3 copy number gain See cases [RCV000510589] Chr10:132354150..135427143 [GRCh37]
Chr10:10q26.3
uncertain significance
GRCh37/hg19 10q26.2-26.3(chr10:129825453-135427143)x1 copy number loss See cases [RCV000511570] Chr10:129825453..135427143 [GRCh37]
Chr10:10q26.2-26.3
likely pathogenic
GRCh37/hg19 10q26.2-26.3(chr10:127658004-135427143)x1 copy number loss See cases [RCV000511813] Chr10:127658004..135427143 [GRCh37]
Chr10:10q26.2-26.3
pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143) copy number gain See cases [RCV000511389] Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic|uncertain significance
GRCh37/hg19 10q26.3(chr10:134624870-135427143)x1 copy number loss See cases [RCV000511601] Chr10:134624870..135427143 [GRCh37]
Chr10:10q26.3
likely pathogenic
GRCh37/hg19 10q25.1-26.3(chr10:106003533-135427143)x3 copy number gain See cases [RCV000510813] Chr10:106003533..135427143 [GRCh37]
Chr10:10q25.1-26.3
pathogenic
GRCh37/hg19 10q23.32-26.3(chr10:93283493-135427143)x3 copy number gain See cases [RCV000510972] Chr10:93283493..135427143 [GRCh37]
Chr10:10q23.32-26.3
pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3 copy number gain See cases [RCV000510861] Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic
GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626438] Chr10:42347406..135534747 [GRCh37]
Chr10:10q11.21-26.3
drug response
GRCh37/hg19 10q26.2-26.3(chr10:129007673-135427143)x3 copy number gain See cases [RCV000512398] Chr10:129007673..135427143 [GRCh37]
Chr10:10q26.2-26.3
pathogenic
GRCh37/hg19 10q26.3(chr10:134615768-135184126)x3 copy number gain See cases [RCV000512163] Chr10:134615768..135184126 [GRCh37]
Chr10:10q26.3
likely benign
GRCh37/hg19 10q26.13-26.3(chr10:127375792-135427143)x1 copy number loss not provided [RCV000683283] Chr10:127375792..135427143 [GRCh37]
Chr10:10q26.13-26.3
pathogenic
GRCh37/hg19 10q26.3(chr10:133574560-135296619)x4 copy number gain not provided [RCV000683265] Chr10:133574560..135296619 [GRCh37]
Chr10:10q26.3
uncertain significance
GRCh37/hg19 10q26.12-26.3(chr10:122509781-135427143)x1 copy number loss not provided [RCV000683287] Chr10:122509781..135427143 [GRCh37]
Chr10:10q26.12-26.3
pathogenic
GRCh37/hg19 10q26.13-26.3(chr10:125450893-135427143)x1 copy number loss not provided [RCV000683285] Chr10:125450893..135427143 [GRCh37]
Chr10:10q26.13-26.3
pathogenic
GRCh37/hg19 10q26.12-26.3(chr10:123019239-135427143)x1 copy number loss not provided [RCV000683286] Chr10:123019239..135427143 [GRCh37]
Chr10:10q26.12-26.3
pathogenic
GRCh37/hg19 10q24.33-26.3(chr10:105613040-135427143)x3 copy number gain not provided [RCV000683290] Chr10:105613040..135427143 [GRCh37]
Chr10:10q24.33-26.3
pathogenic
GRCh37/hg19 10q26.11-26.3(chr10:121269222-135427143)x3 copy number gain not provided [RCV000683288] Chr10:121269222..135427143 [GRCh37]
Chr10:10q26.11-26.3
pathogenic
GRCh37/hg19 10q23.33-26.3(chr10:94346520-135427143)x3 copy number gain not provided [RCV000683291] Chr10:94346520..135427143 [GRCh37]
Chr10:10q23.33-26.3
pathogenic
GRCh37/hg19 10q26.3(chr10:131949020-135427143)x1 copy number loss not provided [RCV000683274] Chr10:131949020..135427143 [GRCh37]
Chr10:10q26.3
pathogenic
GRCh37/hg19 10q26.12-26.3(chr10:122443197-135477883)x1 copy number loss not provided [RCV000737305] Chr10:122443197..135477883 [GRCh37]
Chr10:10q26.12-26.3
pathogenic
GRCh37/hg19 10q26.2-26.3(chr10:129454892-135447971)x1 copy number loss not provided [RCV000737323] Chr10:129454892..135447971 [GRCh37]
Chr10:10q26.2-26.3
pathogenic
GRCh37/hg19 10q26.3(chr10:134589631-135244723)x1 copy number loss not provided [RCV000737342] Chr10:134589631..135244723 [GRCh37]
Chr10:10q26.3
benign
GRCh37/hg19 10p15.3-q26.3(chr10:98087-135477883)x3 copy number gain not provided [RCV000749465] Chr10:98087..135477883 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic
GRCh37/hg19 10q26.3(chr10:134777671-135434303)x1 copy number loss not provided [RCV000749862] Chr10:134777671..135434303 [GRCh37]
Chr10:10q26.3
benign
GRCh37/hg19 10q26.3(chr10:134889866-135379710)x3 copy number gain not provided [RCV000749866] Chr10:134889866..135379710 [GRCh37]
Chr10:10q26.3
benign
GRCh37/hg19 10q26.3(chr10:135012384-135278193)x3 copy number gain not provided [RCV000749873] Chr10:135012384..135278193 [GRCh37]
Chr10:10q26.3
benign
GRCh37/hg19 10p15.3-q26.3(chr10:73232-135524321)x3 copy number gain not provided [RCV000749464] Chr10:73232..135524321 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic
GRCh37/hg19 10q26.2-26.3(chr10:129381095-135427143)x1 copy number loss not provided [RCV001006364] Chr10:129381095..135427143 [GRCh37]
Chr10:10q26.2-26.3
pathogenic
GRCh37/hg19 10q25.1-26.3(chr10:110022170-135439095) copy number gain not provided [RCV000767665] Chr10:110022170..135439095 [GRCh37]
Chr10:10q25.1-26.3
pathogenic
GRCh37/hg19 10q26.3(chr10:135079677-135427143)x4 copy number gain not provided [RCV000848040] Chr10:135079677..135427143 [GRCh37]
Chr10:10q26.3
uncertain significance
GRCh37/hg19 10q26.13-26.3(chr10:124988334-135427143)x3 copy number gain not provided [RCV000848791] Chr10:124988334..135427143 [GRCh37]
Chr10:10q26.13-26.3
pathogenic
GRCh37/hg19 10q26.3(chr10:135158728-135427143)x1 copy number loss not provided [RCV000847103] Chr10:135158728..135427143 [GRCh37]
Chr10:10q26.3
uncertain significance
GRCh37/hg19 10q26.2-26.3(chr10:129009772-135427143)x1 copy number loss not provided [RCV001006362] Chr10:129009772..135427143 [GRCh37]
Chr10:10q26.2-26.3
pathogenic
GRCh37/hg19 10q26.3(chr10:135111843-135427143)x1 copy number loss not provided [RCV000848506] Chr10:135111843..135427143 [GRCh37]
Chr10:10q26.3
uncertain significance
GRCh37/hg19 10q26.11-26.3(chr10:119996339-135427143)x3 copy number gain not provided [RCV001006356] Chr10:119996339..135427143 [GRCh37]
Chr10:10q26.11-26.3
pathogenic
GRCh37/hg19 10q26.3(chr10:135165733-135427143)x3 copy number gain not provided [RCV001259088] Chr10:135165733..135427143 [GRCh37]
Chr10:10q26.3
likely benign
GRCh37/hg19 10q26.2-26.3(chr10:129031265-135427143)x1 copy number loss not provided [RCV001259085] Chr10:129031265..135427143 [GRCh37]
Chr10:10q26.2-26.3
pathogenic
Single allele deletion Chromosome 10q26 deletion syndrome [RCV001391670] Chr10:127548166..135440251 [GRCh37]
Chr10:10q26.2-26.3
pathogenic
GRCh37/hg19 10q26.2-26.3(chr10:129483682-135434178) copy number loss Global developmental delay [RCV001352664] Chr10:129483682..135434178 [GRCh37]
Chr10:10q26.2-26.3
pathogenic
GRCh37/hg19 10q26.12-26.3(chr10:122785023-135457222)x1 copy number loss See cases [RCV001526488] Chr10:122785023..135457222 [GRCh37]
Chr10:10q26.12-26.3
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:23304 AgrOrtholog
COSMIC PRAP1 COSMIC
Ensembl Genes ENSG00000165828 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000416126 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000486265 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000433452 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000463201 ENTREZGENE, UniProtKB/Swiss-Prot
GTEx ENSG00000165828 GTEx
HGNC ID HGNC:23304 ENTREZGENE
Human Proteome Map PRAP1 Human Proteome Map
InterPro PRAP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:118471 UniProtKB/Swiss-Prot
NCBI Gene 118471 ENTREZGENE
OMIM 609776 OMIM
PANTHER PTHR37861 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam PRAP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134981678 PharmGKB
UniProt A6XND8 ENTREZGENE, UniProtKB/TrEMBL
  PRAP1_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary B7ZL57 UniProtKB/Swiss-Prot
  B7ZL58 UniProtKB/Swiss-Prot
  E9KL31 UniProtKB/Swiss-Prot
  Q5VWY4 UniProtKB/Swiss-Prot
  Q7Z4X5 UniProtKB/Swiss-Prot
  Q8IWR3 UniProtKB/Swiss-Prot
  Q8NCS2 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-06-14 PRAP1  proline rich acidic protein 1    proline-rich acidic protein 1  Symbol and/or name change 5135510 APPROVED