PRR7 (proline rich 7, synaptic) - Rat Genome Database

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Gene: PRR7 (proline rich 7, synaptic) Homo sapiens
Analyze
Symbol: PRR7
Name: proline rich 7, synaptic
RGD ID: 1345236
HGNC Page HGNC:28130
Description: Enables long-chain fatty acid binding activity; protein tyrosine kinase binding activity; and ubiquitin-like protein ligase binding activity. Involved in positive regulation of apoptotic process and regulation of transcription by RNA polymerase I. Located in several cellular components, including cytosol; nucleoplasm; and perinuclear region of cytoplasm.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: MGC10772; proline rich 7 (synaptic); proline-rich protein 7; synaptic proline-rich membrane protein
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
GRCh385177,445,995 - 177,456,286 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl5177,446,445 - 177,456,286 (+)EnsemblGRCh38hg38GRCh38
GRCh375176,872,996 - 176,883,287 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 365176,806,400 - 176,815,889 (+)NCBINCBI36Build 36hg18NCBI36
Build 345176,806,401 - 176,815,889NCBI
Celera5171,618,357 - 171,627,632 (-)NCBICelera
Cytogenetic Map5q35.3NCBI
HuRef5171,794,261 - 171,803,535 (+)NCBIHuRef
CHM1_15176,307,202 - 176,316,315 (+)NCBICHM1_1
T2T-CHM13v2.05177,989,257 - 177,999,332 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
3. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, etal., Proc Natl Acad Sci U S A. 2002 Dec 24;99(26):16899-903. Epub 2002 Dec 11.
Additional References at PubMed
PMID:15629447   PMID:17207965   PMID:20383146   PMID:21460222   PMID:21988832   PMID:22703881   PMID:26760575   PMID:27458189   PMID:33961781   PMID:35044719  


Genomics

Comparative Map Data
PRR7
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh385177,445,995 - 177,456,286 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl5177,446,445 - 177,456,286 (+)EnsemblGRCh38hg38GRCh38
GRCh375176,872,996 - 176,883,287 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 365176,806,400 - 176,815,889 (+)NCBINCBI36Build 36hg18NCBI36
Build 345176,806,401 - 176,815,889NCBI
Celera5171,618,357 - 171,627,632 (-)NCBICelera
Cytogenetic Map5q35.3NCBI
HuRef5171,794,261 - 171,803,535 (+)NCBIHuRef
CHM1_15176,307,202 - 176,316,315 (+)NCBICHM1_1
T2T-CHM13v2.05177,989,257 - 177,999,332 (+)NCBIT2T-CHM13v2.0
Prr7
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391355,612,080 - 55,620,968 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1355,612,080 - 55,620,967 (+)EnsemblGRCm39 Ensembl
GRCm381355,464,267 - 55,473,162 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1355,464,267 - 55,473,154 (+)EnsemblGRCm38mm10GRCm38
MGSCv371355,565,628 - 55,574,516 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361355,481,647 - 55,482,774 (+)NCBIMGSCv36mm8
Celera1356,518,298 - 56,527,198 (+)NCBICelera
Cytogenetic Map13B1NCBI
cM Map1330.06NCBI
Prr7
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8179,170,405 - 9,178,814 (-)NCBIGRCr8
mRatBN7.2179,164,375 - 9,173,669 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl179,165,269 - 9,172,536 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx179,181,390 - 9,182,514 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01710,711,423 - 10,712,547 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0179,177,778 - 9,178,902 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0179,693,274 - 9,702,795 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl179,694,168 - 9,695,292 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01711,803,146 - 11,811,418 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41715,209,243 - 15,210,367 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera179,243,777 - 9,244,901 (-)NCBICelera
Cytogenetic Map17p14NCBI
Prr7
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540829,692,004 - 29,695,113 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495540829,685,254 - 29,695,113 (+)NCBIChiLan1.0ChiLan1.0
PRR7
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v24172,530,012 - 172,540,600 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan15170,669,548 - 170,680,144 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v05172,748,020 - 172,757,989 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.15179,818,184 - 179,820,471 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl5179,818,184 - 179,821,479 (+)Ensemblpanpan1.1panPan2
PRR7
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1435,913,300 - 35,923,823 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl435,913,472 - 35,943,221 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha435,880,991 - 35,882,194 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0436,280,009 - 36,281,212 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl436,280,090 - 36,281,075 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1436,105,275 - 36,106,470 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0436,291,229 - 36,292,426 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0436,800,703 - 36,801,904 (-)NCBIUU_Cfam_GSD_1.0
Prr7
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024407213122,701,213 - 122,710,382 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365971,726,070 - 1,735,343 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365971,726,143 - 1,735,295 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PRR7
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl280,496,106 - 80,505,430 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1280,496,105 - 80,508,825 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
PRR7
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12379,458,347 - 79,467,421 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2379,466,186 - 79,467,257 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366607510,650,015 - 10,659,071 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Prr7
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462473312,632,309 - 12,633,729 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462473312,632,297 - 12,633,521 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in PRR7
10 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 5q35.2-35.3(chr5:176132340-177586960)x1 copy number loss See cases [RCV000050645] Chr5:176132340..177586960 [GRCh38]
Chr5:175559343..177013961 [GRCh37]
Chr5:175491949..176946567 [NCBI36]
Chr5:5q35.2-35.3		 pathogenic
GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3 copy number gain See cases [RCV000051863] Chr5:149714592..181272151 [GRCh38]
Chr5:149094155..180699152 [GRCh37]
Chr5:149074348..180631758 [NCBI36]
Chr5:5q32-35.3		 pathogenic
GRCh38/hg38 5q33.3-35.3(chr5:160029980-181269805)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051865]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051865]|See cases [RCV000051865] Chr5:160029980..181269805 [GRCh38]
Chr5:159456987..180696806 [GRCh37]
Chr5:159389565..180629412 [NCBI36]
Chr5:5q33.3-35.3		 pathogenic
GRCh38/hg38 5q34-35.3(chr5:168689326-181269946)x3 copy number gain See cases [RCV000051866] Chr5:168689326..181269946 [GRCh38]
Chr5:168116331..180696947 [GRCh37]
Chr5:168048909..180629553 [NCBI36]
Chr5:5q34-35.3		 pathogenic
GRCh38/hg38 5q35.2-35.3(chr5:175851047-178365049)x3 copy number gain See cases [RCV000051867] Chr5:175851047..178365049 [GRCh38]
Chr5:175278050..177792050 [GRCh37]
Chr5:175210656..177724656 [NCBI36]
Chr5:5q35.2-35.3		 pathogenic
GRCh38/hg38 5q35.2-35.3(chr5:175889986-180793986)x3 copy number gain See cases [RCV000051868] Chr5:175889986..180793986 [GRCh38]
Chr5:175316989..180220986 [GRCh37]
Chr5:175249595..180153592 [NCBI36]
Chr5:5q35.2-35.3		 pathogenic
GRCh38/hg38 5q35.2-35.3(chr5:175007241-179089812)x1 copy number loss See cases [RCV000052151] Chr5:175007241..179089812 [GRCh38]
Chr5:174434244..178516813 [GRCh37]
Chr5:174366850..178449419 [NCBI36]
Chr5:5q35.2-35.3		 pathogenic
GRCh38/hg38 5q35.2-35.3(chr5:176043476-177995759)x1 copy number loss See cases [RCV000053127] Chr5:176043476..177995759 [GRCh38]
Chr5:175470479..177422760 [GRCh37]
Chr5:175403085..177355366 [NCBI36]
Chr5:5q35.2-35.3		 pathogenic
GRCh38/hg38 5q35.2-35.3(chr5:176115257-177646633)x1 copy number loss See cases [RCV000053128] Chr5:176115257..177646633 [GRCh38]
Chr5:175542260..177073634 [GRCh37]
Chr5:175474866..177006240 [NCBI36]
Chr5:5q35.2-35.3		 pathogenic
GRCh38/hg38 5q35.2-35.3(chr5:176152073-177986213)x1 copy number loss See cases [RCV000053129] Chr5:176152073..177986213 [GRCh38]
Chr5:175579076..177413214 [GRCh37]
Chr5:175511682..177345820 [NCBI36]
Chr5:5q35.2-35.3		 pathogenic
GRCh38/hg38 5q35.2-35.3(chr5:176152073-177646633)x1 copy number loss See cases [RCV000053131] Chr5:176152073..177646633 [GRCh38]
Chr5:175579076..177073634 [GRCh37]
Chr5:175511682..177006240 [NCBI36]
Chr5:5q35.2-35.3		 pathogenic
GRCh38/hg38 5q35.2-35.3(chr5:176149599-177716401)x3 copy number gain See cases [RCV000053481] Chr5:176149599..177716401 [GRCh38]
Chr5:175576602..177143402 [GRCh37]
Chr5:175509208..177076008 [NCBI36]
Chr5:5q35.2-35.3		 pathogenic|uncertain significance
GRCh38/hg38 5q35.2-35.3(chr5:176043476-177452489)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053860]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053860]|See cases [RCV000053860] Chr5:176043476..177452489 [GRCh38]
Chr5:175470479..176879490 [GRCh37]
Chr5:175403085..176812096 [NCBI36]
Chr5:5q35.2-35.3		 pathogenic|uncertain significance
NM_004395.3(DBN1):c.1939G>A (p.Gly647Ser) single nucleotide variant Malignant melanoma [RCV000061219] Chr5:177457444 [GRCh38]
Chr5:176884445 [GRCh37]
Chr5:176817051 [NCBI36]
Chr5:5q35.3		 not provided
GRCh38/hg38 5q33.3-35.3(chr5:156825512-181269805)x3 copy number gain See cases [RCV000133847] Chr5:156825512..181269805 [GRCh38]
Chr5:156252523..180696806 [GRCh37]
Chr5:156185101..180629412 [NCBI36]
Chr5:5q33.3-35.3		 pathogenic
GRCh38/hg38 5q34-35.3(chr5:164386701-181269805)x3 copy number gain See cases [RCV000135546] Chr5:164386701..181269805 [GRCh38]
Chr5:163813707..180696806 [GRCh37]
Chr5:163746285..180629412 [NCBI36]
Chr5:5q34-35.3		 pathogenic
GRCh38/hg38 5q35.3(chr5:177261458-177651722)x3 copy number gain See cases [RCV000138817] Chr5:177261458..177651722 [GRCh38]
Chr5:176688459..177078723 [GRCh37]
Chr5:176621065..177011329 [NCBI36]
Chr5:5q35.3		 likely benign|uncertain significance
GRCh38/hg38 5q35.1-35.3(chr5:169334755-181285301)x3 copy number gain See cases [RCV000141249] Chr5:169334755..181285301 [GRCh38]
Chr5:168761759..180712302 [GRCh37]
Chr5:168694337..180644908 [NCBI36]
Chr5:5q35.1-35.3		 pathogenic
GRCh38/hg38 5q35.2-35.3(chr5:175536771-181292788)x1 copy number loss See cases [RCV000141987] Chr5:175536771..181292788 [GRCh38]
Chr5:174963774..180719789 [GRCh37]
Chr5:174896380..180652395 [NCBI36]
Chr5:5q35.2-35.3		 pathogenic
GRCh38/hg38 5q35.2-35.3(chr5:175989092-178009412)x1 copy number loss See cases [RCV000142365] Chr5:175989092..178009412 [GRCh38]
Chr5:175416095..177436413 [GRCh37]
Chr5:175348701..177369019 [NCBI36]
Chr5:5q35.2-35.3		 pathogenic
GRCh38/hg38 5q35.2-35.3(chr5:176132340-177995759)x1 copy number loss See cases [RCV000142510] Chr5:176132340..177995759 [GRCh38]
Chr5:175559343..177422760 [GRCh37]
Chr5:175491949..177355366 [NCBI36]
Chr5:5q35.2-35.3		 pathogenic
GRCh38/hg38 5q35.2-35.3(chr5:176291838-178662699)x1 copy number loss See cases [RCV000142047] Chr5:176291838..178662699 [GRCh38]
Chr5:175718841..178089700 [GRCh37]
Chr5:175651447..178022306 [NCBI36]
Chr5:5q35.2-35.3		 pathogenic
GRCh38/hg38 5q35.2-35.3(chr5:176700128-181269805)x1 copy number loss See cases [RCV000142648] Chr5:176700128..181269805 [GRCh38]
Chr5:176127129..180696806 [GRCh37]
Chr5:176059735..180629412 [NCBI36]
Chr5:5q35.2-35.3		 pathogenic
GRCh38/hg38 5q35.2-35.3(chr5:176517339-177709289)x1 copy number loss See cases [RCV000142538] Chr5:176517339..177709289 [GRCh38]
Chr5:175944340..177136290 [GRCh37]
Chr5:175876946..177068896 [NCBI36]
Chr5:5q35.2-35.3		 pathogenic
GRCh38/hg38 5q35.2-35.3(chr5:176143674-178009412)x1 copy number loss See cases [RCV000143463] Chr5:176143674..178009412 [GRCh38]
Chr5:175570677..177436413 [GRCh37]
Chr5:175503283..177369019 [NCBI36]
Chr5:5q35.2-35.3		 pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:174397487-180686444)x1 copy number loss See cases [RCV000167565] Chr5:174397487..180686444 [GRCh37]
Chr5:5q35.2-35.3		 pathogenic
GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3 copy number gain not provided [RCV000487658] Chr5:94844077..178830410 [GRCh37]
Chr5:5q15-35.3		 likely benign
GRCh37/hg19 5q35.2-35.3(chr5:174990352-180690937) copy number gain not provided [RCV000767711] Chr5:174990352..180690937 [GRCh37]
Chr5:5q35.2-35.3		 pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:176274007-180719789)x1 copy number loss See cases [RCV000447018] Chr5:176274007..180719789 [GRCh37]
Chr5:5q35.2-35.3		 pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789) copy number gain See cases [RCV000510723] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:175722788-177423091)x3 copy number gain See cases [RCV000445774] Chr5:175722788..177423091 [GRCh37]
Chr5:5q35.2-35.3		 pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:176505173-178230923)x1 copy number loss See cases [RCV000445817] Chr5:176505173..178230923 [GRCh37]
Chr5:5q35.2-35.3		 pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:174427052-180719789)x1 copy number loss See cases [RCV000448611] Chr5:174427052..180719789 [GRCh37]
Chr5:5q35.2-35.3		 pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:175601473-180100378)x1 copy number loss See cases [RCV000448793] Chr5:175601473..180100378 [GRCh37]
Chr5:5q35.2-35.3		 pathogenic
GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3 copy number gain See cases [RCV000448245] Chr5:106716357..180687338 [GRCh37]
Chr5:5q21.3-35.3		 pathogenic
GRCh37/hg19 5q35.1-35.3(chr5:171396359-180719789)x3 copy number gain See cases [RCV000448458] Chr5:171396359..180719789 [GRCh37]
Chr5:5q35.1-35.3		 pathogenic
GRCh37/hg19 5q35.1-35.3(chr5:172031248-180719789)x3 copy number gain See cases [RCV000512068] Chr5:172031248..180719789 [GRCh37]
Chr5:5q35.1-35.3		 pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:175438045-177392885)x1 copy number loss See cases [RCV000511974] Chr5:175438045..177392885 [GRCh37]
Chr5:5q35.2-35.3		 pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3 copy number gain See cases [RCV000512039] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:175570677-177439550)x3 copy number gain See cases [RCV000511393] Chr5:175570677..177439550 [GRCh37]
Chr5:5q35.2-35.3		 pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:175570677-180719789)x1 copy number loss See cases [RCV000510785] Chr5:175570677..180719789 [GRCh37]
Chr5:5q35.2-35.3		 pathogenic
NM_030567.5(PRR7):c.372C>G (p.His124Gln) single nucleotide variant not specified [RCV004310831] Chr5:177455439 [GRCh38]
Chr5:176882440 [GRCh37]
Chr5:5q35.3		 uncertain significance
GRCh37/hg19 5q35.2-35.3(chr5:175570678-177437340)x1 copy number loss See cases [RCV000512405] Chr5:175570678..177437340 [GRCh37]
Chr5:5q35.2-35.3		 pathogenic
Single allele duplication not provided [RCV000677989] Chr5:176798338..177423150 [GRCh37]
Chr5:5q35.3		 uncertain significance
GRCh37/hg19 5q35.2-35.3(chr5:175438045-177481250)x1 copy number loss not provided [RCV000682614] Chr5:175438045..177481250 [GRCh37]
Chr5:5q35.2-35.3		 pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:176044976-177023859)x1 copy number loss not provided [RCV000682618] Chr5:176044976..177023859 [GRCh37]
Chr5:5q35.2-35.3		 pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:175570677-177436413)x1 copy number loss not provided [RCV000682615] Chr5:175570677..177436413 [GRCh37]
Chr5:5q35.2-35.3		 pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:25328-180693344)x3 copy number gain not provided [RCV000744323] Chr5:25328..180693344 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:13648-180905029)x3 copy number gain not provided [RCV000744317] Chr5:13648..180905029 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
GRCh37/hg19 5q33.2-35.3(chr5:155344802-180693344)x3 copy number gain not provided [RCV000745284] Chr5:155344802..180693344 [GRCh37]
Chr5:5q33.2-35.3		 pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:174832617-180693344)x3 copy number gain not provided [RCV000745336] Chr5:174832617..180693344 [GRCh37]
Chr5:5q35.2-35.3		 pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:175346223-177423236)x1 copy number loss not provided [RCV000745338] Chr5:175346223..177423236 [GRCh37]
Chr5:5q35.2-35.3		 pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:175433876-177441189)x1 copy number loss not provided [RCV000745339] Chr5:175433876..177441189 [GRCh37]
Chr5:5q35.2-35.3		 pathogenic
Single allele duplication not provided [RCV000768450] Chr5:175843728..180703728 [GRCh37]
Chr5:5q35.2-35.3		 likely pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:176305543-177422876) copy number gain not provided [RCV000767712] Chr5:176305543..177422876 [GRCh37]
Chr5:5q35.2-35.3		 pathogenic
GRCh37/hg19 5q35.3(chr5:176774402-177064884)x4 copy number gain not provided [RCV000848335] Chr5:176774402..177064884 [GRCh37]
Chr5:5q35.3		 uncertain significance
GRCh37/hg19 5q35.2-35.3(chr5:175570677-177439550)x3 copy number gain not provided [RCV000846148] Chr5:175570677..177439550 [GRCh37]
Chr5:5q35.2-35.3		 pathogenic
Single allele deletion Marfanoid habitus and intellectual disability [RCV000851176] Chr5:175875407..177036017 [GRCh37]
Chr5:5q35.2-35.3		 likely pathogenic
GRCh37/hg19 5q35.3(chr5:176643613-179085551)x3 copy number gain not provided [RCV000846590] Chr5:176643613..179085551 [GRCh37]
Chr5:5q35.3		 uncertain significance
GRCh37/hg19 5q35.3(chr5:176848982-180719789)x3 copy number gain not provided [RCV000847220] Chr5:176848982..180719789 [GRCh37]
Chr5:5q35.3		 pathogenic
GRCh37/hg19 5q35.3(chr5:176732536-177260046)x1 copy number loss not provided [RCV000845642] Chr5:176732536..177260046 [GRCh37]
Chr5:5q35.3		 uncertain significance
NC_000005.9:g.(?_176289625)_(177151363_?)del deletion Sotos syndrome [RCV003232856]|not provided [RCV003113198] Chr5:176289625..177151363 [GRCh37]
Chr5:5q35.2-35.3		 pathogenic|no classifications from unflagged records
GRCh37/hg19 5q35.3(chr5:176616151-177107778)x3 copy number gain not provided [RCV002472763] Chr5:176616151..177107778 [GRCh37]
Chr5:5q35.3		 uncertain significance
GRCh37/hg19 5q35.2-35.3(chr5:175346695-177469711)x1 copy number loss Sotos syndrome [RCV003232270] Chr5:175346695..177469711 [GRCh37]
Chr5:5q35.2-35.3		 pathogenic
GRCh37/hg19 5q35.1-35.3(chr5:170805664-180719789)x3 copy number gain 5q35 microduplication syndrome [RCV001263227] Chr5:170805664..180719789 [GRCh37]
Chr5:5q35.1-35.3		 pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:175394616-177436413)x3 copy number gain not provided [RCV001258713] Chr5:175394616..177436413 [GRCh37]
Chr5:5q35.2-35.3		 pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:175570677-177114151)x3 copy number gain not provided [RCV001258712] Chr5:175570677..177114151 [GRCh37]
Chr5:5q35.2-35.3		 pathogenic
GRCh37/hg19 5q32-35.3(chr5:149010383-180719789) copy number gain Hunter-McAlpine craniosynostosis [RCV002280612] Chr5:149010383..180719789 [GRCh37]
Chr5:5q32-35.3		 pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:176497464-177776599)x3 copy number gain not provided [RCV001832980] Chr5:176497464..177776599 [GRCh37]
Chr5:5q35.2-35.3		 pathogenic|likely pathogenic
NC_000005.9:g.(?_176047812)_(177422934_?)del deletion Ehlers-Danlos syndrome progeroid type [RCV001931790] Chr5:176047812..177422934 [GRCh37]
Chr5:5q35.2-35.3		 uncertain significance
NC_000005.9:g.(?_176047812)_(177422934_?)dup duplication Ehlers-Danlos syndrome progeroid type [RCV001883344]|not provided [RCV001879660] Chr5:176047812..177422934 [GRCh37]
Chr5:5q35.2-35.3		 uncertain significance
NC_000005.9:g.(?_175158654)_(179263593_?)dup duplication Ehlers-Danlos syndrome, dermatosparaxis type [RCV003116717]|Sotos syndrome [RCV003232857]|not provided [RCV003154288] Chr5:175158654..179263593 [GRCh37]
Chr5:5q35.2-35.3		 uncertain significance|no classifications from unflagged records
NC_000005.9:g.(?_176618865)_(177036696_?)dup duplication Sotos syndrome [RCV003232859] Chr5:176618865..177036696 [GRCh37]
Chr5:5q35.3		 uncertain significance
GRCh37/hg19 5q35.1-35.3(chr5:170350336-180719789)x3 copy number gain See cases [RCV002292398] Chr5:170350336..180719789 [GRCh37]
Chr5:5q35.1-35.3		 pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:176516440-177773252)x3 copy number gain not provided [RCV002474595] Chr5:176516440..177773252 [GRCh37]
Chr5:5q35.2-35.3		 likely pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:176547912-177126647)x3 copy number gain not provided [RCV002472528] Chr5:176547912..177126647 [GRCh37]
Chr5:5q35.2-35.3		 likely pathogenic
GRCh37/hg19 5q35.3(chr5:176718361-176957659)x3 copy number gain not provided [RCV002472682] Chr5:176718361..176957659 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_030567.5(PRR7):c.746G>A (p.Ser249Asn) single nucleotide variant not specified [RCV004155046] Chr5:177456042 [GRCh38]
Chr5:176883043 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_030567.5(PRR7):c.659C>A (p.Pro220His) single nucleotide variant not specified [RCV004158506] Chr5:177455955 [GRCh38]
Chr5:176882956 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_030567.5(PRR7):c.118C>T (p.Arg40Trp) single nucleotide variant not specified [RCV004131405] Chr5:177455185 [GRCh38]
Chr5:176882186 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_030567.5(PRR7):c.285C>A (p.His95Gln) single nucleotide variant not specified [RCV004149729] Chr5:177455352 [GRCh38]
Chr5:176882353 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_030567.5(PRR7):c.379C>T (p.Pro127Ser) single nucleotide variant not specified [RCV004201397] Chr5:177455446 [GRCh38]
Chr5:176882447 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_030567.5(PRR7):c.757C>A (p.Pro253Thr) single nucleotide variant not specified [RCV004162317] Chr5:177456053 [GRCh38]
Chr5:176883054 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_030567.5(PRR7):c.293T>C (p.Val98Ala) single nucleotide variant not specified [RCV004119922] Chr5:177455360 [GRCh38]
Chr5:176882361 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_030567.5(PRR7):c.368C>G (p.Pro123Arg) single nucleotide variant not specified [RCV004327344] Chr5:177455435 [GRCh38]
Chr5:176882436 [GRCh37]
Chr5:5q35.3		 uncertain significance
GRCh37/hg19 5q35.2-35.3(chr5:175332333-177469711)x1 copy number loss not provided [RCV003485494] Chr5:175332333..177469711 [GRCh37]
Chr5:5q35.2-35.3		 pathogenic
Single allele deletion not provided [RCV003448669] Chr5:175559209..177430432 [GRCh37]
Chr5:5q35.2-35.3		 pathogenic
NM_030567.5(PRR7):c.284A>T (p.His95Leu) single nucleotide variant not specified [RCV004510377] Chr5:177455351 [GRCh38]
Chr5:176882352 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_030567.5(PRR7):c.73G>C (p.Val25Leu) single nucleotide variant not specified [RCV004510380] Chr5:177455140 [GRCh38]
Chr5:176882141 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_030567.5(PRR7):c.199G>A (p.Gly67Arg) single nucleotide variant not specified [RCV004510376] Chr5:177455266 [GRCh38]
Chr5:176882267 [GRCh37]
Chr5:5q35.3		 uncertain significance
GRCh37/hg19 5q35.2-35.3(chr5:176385815-178410738)x1 copy number loss not specified [RCV003986570] Chr5:176385815..178410738 [GRCh37]
Chr5:5q35.2-35.3		 pathogenic
GRCh37/hg19 5q35.3(chr5:176744569-177107777)x3 copy number gain not specified [RCV003986576] Chr5:176744569..177107777 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_030567.5(PRR7):c.569G>C (p.Ser190Thr) single nucleotide variant not specified [RCV004510379] Chr5:177455865 [GRCh38]
Chr5:176882866 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_030567.5(PRR7):c.765G>C (p.Glu255Asp) single nucleotide variant not specified [RCV004510381] Chr5:177456061 [GRCh38]
Chr5:176883062 [GRCh37]
Chr5:5q35.3		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1454
Count of miRNA genes:511
Interacting mature miRNAs:585
Transcripts:ENST00000323249, ENST00000502922, ENST00000507881, ENST00000510492
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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

Markers in Region
RH47231  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375176,875,969 - 176,876,095UniSTSGRCh37
Build 365176,808,575 - 176,808,701RGDNCBI36
Celera5171,625,333 - 171,625,459RGD
Cytogenetic Map5q35.3UniSTS
HuRef5171,796,434 - 171,796,560UniSTS
GeneMap99-GB4 RH Map5645.5UniSTS
NCBI RH Map5973.0UniSTS


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 157 70 264 32 464 32 650 48 2129 60 260 204 10 331
Low 2190 2482 1370 516 1469 356 3303 1642 1596 301 1160 1384 162 1111 2125 3 1
Below cutoff 89 433 90 74 13 76 399 497 7 53 35 23 2 1 92 330

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000323249   ⟹   ENSP00000327168
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5177,446,814 - 177,456,286 (+)Ensembl
RefSeq Acc Id: ENST00000502922   ⟹   ENSP00000420872
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5177,446,827 - 177,456,268 (+)Ensembl
RefSeq Acc Id: ENST00000507881   ⟹   ENSP00000426601
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5177,446,445 - 177,455,832 (+)Ensembl
RefSeq Acc Id: ENST00000510492   ⟹   ENSP00000421039
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5177,448,334 - 177,456,268 (+)Ensembl
RefSeq Acc Id: NM_001174101   ⟹   NP_001167572
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385177,446,814 - 177,456,286 (+)NCBI
GRCh375176,873,796 - 176,883,287 (+)RGD
Celera5171,618,357 - 171,627,632 (-)RGD
HuRef5171,794,261 - 171,803,535 (+)ENTREZGENE
CHM1_15176,307,202 - 176,316,315 (+)NCBI
T2T-CHM13v2.05177,990,076 - 177,999,332 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001174102   ⟹   NP_001167573
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385177,448,325 - 177,456,286 (+)NCBI
GRCh375176,873,796 - 176,883,287 (+)RGD
Celera5171,618,357 - 171,627,632 (-)RGD
HuRef5171,794,261 - 171,803,535 (+)ENTREZGENE
CHM1_15176,308,732 - 176,316,311 (+)NCBI
T2T-CHM13v2.05177,991,587 - 177,999,332 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001375593   ⟹   NP_001362522
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385177,445,995 - 177,456,286 (+)NCBI
T2T-CHM13v2.05177,989,257 - 177,999,332 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001375594   ⟹   NP_001362523
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385177,447,425 - 177,456,286 (+)NCBI
T2T-CHM13v2.05177,990,687 - 177,999,332 (+)NCBI
Sequence:
RefSeq Acc Id: NM_030567   ⟹   NP_085044
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385177,446,814 - 177,456,286 (+)NCBI
GRCh375176,873,796 - 176,883,287 (+)RGD
Build 365176,806,400 - 176,815,889 (+)NCBI Archive
Celera5171,618,357 - 171,627,632 (-)RGD
HuRef5171,794,261 - 171,803,535 (+)ENTREZGENE
CHM1_15176,307,202 - 176,316,315 (+)NCBI
T2T-CHM13v2.05177,990,076 - 177,999,332 (+)NCBI
Sequence:
Reference Protein Sequences
RefSeq Acc Id: NP_085044   ⟸   NM_030567
- UniProtKB: Q8WU53 (UniProtKB/Swiss-Prot),   Q9BTA7 (UniProtKB/Swiss-Prot),   Q8TB68 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001167572   ⟸   NM_001174101
- UniProtKB: Q8WU53 (UniProtKB/Swiss-Prot),   Q9BTA7 (UniProtKB/Swiss-Prot),   Q8TB68 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001167573   ⟸   NM_001174102
- UniProtKB: Q8WU53 (UniProtKB/Swiss-Prot),   Q9BTA7 (UniProtKB/Swiss-Prot),   Q8TB68 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001362522   ⟸   NM_001375593
- UniProtKB: Q8WU53 (UniProtKB/Swiss-Prot),   Q8TB68 (UniProtKB/Swiss-Prot),   Q9BTA7 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: NP_001362523   ⟸   NM_001375594
- UniProtKB: Q8WU53 (UniProtKB/Swiss-Prot),   Q8TB68 (UniProtKB/Swiss-Prot),   Q9BTA7 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: ENSP00000420872   ⟸   ENST00000502922
RefSeq Acc Id: ENSP00000426601   ⟸   ENST00000507881
RefSeq Acc Id: ENSP00000327168   ⟸   ENST00000323249
RefSeq Acc Id: ENSP00000421039   ⟸   ENST00000510492

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q8TB68-F1-model_v2 AlphaFold Q8TB68 1-274 view protein structure

Promoters
RGD ID:6803483
Promoter ID:HG_KWN:51909
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000323249,   NM_001174101
Position:
Human AssemblyChrPosition (strand)Source
Build 365176,805,991 - 176,806,567 (+)MPROMDB
RGD ID:6803684
Promoter ID:HG_KWN:51910
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_001174102,   UC003MGT.1
Position:
Human AssemblyChrPosition (strand)Source
Build 365176,806,761 - 176,807,867 (-)MPROMDB
RGD ID:6803060
Promoter ID:HG_KWN:51912
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000355386
Position:
Human AssemblyChrPosition (strand)Source
Build 365176,814,041 - 176,815,172 (+)MPROMDB
RGD ID:6871710
Promoter ID:EPDNEW_H9020
Type:initiation region
Name:PRR7_1
Description:proline rich 7, synaptic
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H9021  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh385177,446,814 - 177,446,874EPDNEW
RGD ID:6871712
Promoter ID:EPDNEW_H9021
Type:initiation region
Name:PRR7_2
Description:proline rich 7, synaptic
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H9020  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh385177,454,804 - 177,454,864EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:28130 AgrOrtholog
COSMIC PRR7 COSMIC
Ensembl Genes ENSG00000131188 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000323249 ENTREZGENE
  ENST00000323249.8 UniProtKB/Swiss-Prot
  ENST00000502922 ENTREZGENE
  ENST00000502922.5 UniProtKB/Swiss-Prot
  ENST00000507881.5 UniProtKB/TrEMBL
  ENST00000510492 ENTREZGENE
  ENST00000510492.1 UniProtKB/Swiss-Prot
GTEx ENSG00000131188 GTEx
HGNC ID HGNC:28130 ENTREZGENE
Human Proteome Map PRR7 Human Proteome Map
KEGG Report hsa:80758 UniProtKB/Swiss-Prot
NCBI Gene 80758 ENTREZGENE
OMIM 618306 OMIM
PANTHER PROLINE-RICH PROTEIN 7 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR16209 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134939770 PharmGKB
UniProt D6RFJ4_HUMAN UniProtKB/TrEMBL
  PRR7_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q8WU53 ENTREZGENE
  Q9BTA7 ENTREZGENE
UniProt Secondary Q8WU53 UniProtKB/Swiss-Prot
  Q9BTA7 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-09-20 PRR7  proline rich 7, synaptic    proline rich 7 (synaptic)  Symbol and/or name change 5135510 APPROVED