PRR16 (proline rich 16) - Rat Genome Database

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Gene: PRR16 (proline rich 16) Homo sapiens
Analyze
Symbol: PRR16
Name: proline rich 16
RGD ID: 1602486
HGNC Page HGNC:29654
Description: Involved in positive regulation of cell size and positive regulation of translation.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: DSC54; LARGEN; mesenchymal stem cell protein DSC54; MGC104614; proline-rich protein 16
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
GRCh385120,464,278 - 120,794,594 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl5120,464,300 - 120,687,332 (+)EnsemblGRCh38hg38GRCh38
GRCh375119,799,995 - 120,023,027 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 365119,827,918 - 120,050,864 (+)NCBINCBI36Build 36hg18NCBI36
Celera5115,751,492 - 115,974,376 (+)NCBICelera
Cytogenetic Map5q23.1NCBI
HuRef5114,992,462 - 115,215,612 (+)NCBIHuRef
CHM1_15119,233,033 - 119,455,926 (+)NCBICHM1_1
T2T-CHM13v2.05120,982,295 - 121,312,571 (+)NCBIT2T-CHM13v2.0
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

Biological Process

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
Additional References at PubMed
PMID:8889548   PMID:12477932   PMID:15971941   PMID:16344560   PMID:19953087   PMID:20379614   PMID:20804422   PMID:21653829   PMID:21832049   PMID:21873635   PMID:22321011   PMID:22610502  
PMID:23080069   PMID:23897914   PMID:24656129   PMID:25133637   PMID:25416956   PMID:27812135   PMID:29513927   PMID:29892012   PMID:30021884   PMID:32296183   PMID:32393512   PMID:33961781  
PMID:36724073  


Genomics

Comparative Map Data
PRR16
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh385120,464,278 - 120,794,594 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl5120,464,300 - 120,687,332 (+)EnsemblGRCh38hg38GRCh38
GRCh375119,799,995 - 120,023,027 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 365119,827,918 - 120,050,864 (+)NCBINCBI36Build 36hg18NCBI36
Celera5115,751,492 - 115,974,376 (+)NCBICelera
Cytogenetic Map5q23.1NCBI
HuRef5114,992,462 - 115,215,612 (+)NCBIHuRef
CHM1_15119,233,033 - 119,455,926 (+)NCBICHM1_1
T2T-CHM13v2.05120,982,295 - 121,312,571 (+)NCBIT2T-CHM13v2.0
Prr16
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391851,250,970 - 51,437,713 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1851,250,805 - 51,553,116 (+)EnsemblGRCm39 Ensembl
GRCm381851,117,898 - 51,304,641 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1851,117,733 - 51,420,044 (+)EnsemblGRCm38mm10GRCm38
MGSCv371851,277,552 - 51,464,295 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361851,242,918 - 51,430,375 (+)NCBIMGSCv36mm8
Celera1852,436,212 - 52,622,381 (+)NCBICelera
Cytogenetic Map18D1NCBI
cM Map1827.97NCBI
Prr16
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81846,622,816 - 46,963,251 (+)NCBIGRCr8
mRatBN7.21844,424,348 - 44,764,796 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1844,424,616 - 44,632,329 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1846,479,981 - 46,687,711 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01847,191,187 - 47,383,338 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01844,985,864 - 45,193,585 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01845,946,130 - 46,151,627 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01845,166,501 - 45,372,242 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41846,322,191 - 46,534,140 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera1842,638,133 - 42,843,435 (+)NCBICelera
Cytogenetic Map18q11NCBI
Prr16
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_00495540840,118,918 - 40,251,144 (+)NCBIChiLan1.0ChiLan1.0
PRR16
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v24115,743,328 - 116,070,265 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan15113,897,358 - 114,228,209 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v05115,855,843 - 116,184,098 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.15121,641,920 - 121,967,309 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl5121,642,072 - 121,863,501 (+)Ensemblpanpan1.1panPan2
PRR16
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1119,818,714 - 10,128,006 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl119,930,742 - 10,104,748 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha118,847,409 - 9,046,044 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01110,892,164 - 11,089,088 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1110,913,311 - 11,199,844 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11110,337,216 - 10,536,047 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0119,473,542 - 9,985,388 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01110,267,516 - 10,466,145 (+)NCBIUU_Cfam_GSD_1.0
Prr16
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024407213132,753,358 - 133,040,186 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936575834,296 - 999,841 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936575834,604 - 1,115,249 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PRR16
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl2124,199,508 - 124,463,885 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.12124,198,883 - 124,463,892 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.22129,848,937 - 129,938,205 (+)NCBISscrofa10.2Sscrofa10.2susScr3
PRR16
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12323,629,564 - 23,842,025 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2323,837,414 - 23,838,166 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603454,305,862 - 54,626,751 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Prr16
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624733896,036 - 1,109,598 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624733761,584 - 1,109,665 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in PRR16
31 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 5q23.1-23.2(chr5:118854384-122849602)x3 copy number gain See cases [RCV000053291] Chr5:118854384..122849602 [GRCh38]
Chr5:118190079..122185297 [GRCh37]
Chr5:118217978..122213196 [NCBI36]
Chr5:5q23.1-23.2		 uncertain significance
GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1 copy number loss See cases [RCV000053524] Chr5:106619588..156124387 [GRCh38]
Chr5:105955289..155551397 [GRCh37]
Chr5:105983188..155483975 [NCBI36]
Chr5:5q21.3-33.2		 pathogenic
GRCh38/hg38 5q23.1-31.1(chr5:116677122-132686163)x1 copy number loss See cases [RCV000053525] Chr5:116677122..132686163 [GRCh38]
Chr5:116012818..132021855 [GRCh37]
Chr5:116040717..132049754 [NCBI36]
Chr5:5q23.1-31.1		 pathogenic
GRCh38/hg38 5q23.1(chr5:119982206-120766818)x1 copy number loss See cases [RCV000053526] Chr5:119982206..120766818 [GRCh38]
Chr5:119317901..120102513 [GRCh37]
Chr5:119345800..120130412 [NCBI36]
Chr5:5q23.1		 pathogenic
NM_016644.2(PRR16):c.162G>A (p.Thr54=) single nucleotide variant Malignant melanoma [RCV000066605] Chr5:120686025 [GRCh38]
Chr5:120021720 [GRCh37]
Chr5:120049619 [NCBI36]
Chr5:5q23.1		 not provided
NM_016644.2(PRR16):c.368C>T (p.Pro123Leu) single nucleotide variant Malignant melanoma [RCV000066606] Chr5:120686231 [GRCh38]
Chr5:120021926 [GRCh37]
Chr5:120049825 [NCBI36]
Chr5:5q23.1		 not provided
NM_016644.2(PRR16):c.684C>T (p.Leu228=) single nucleotide variant Malignant melanoma [RCV000066607] Chr5:120686547 [GRCh38]
Chr5:120022242 [GRCh37]
Chr5:120050141 [NCBI36]
Chr5:5q23.1		 not provided
GRCh38/hg38 5q22.3-23.2(chr5:114707561-126507744)x1 copy number loss See cases [RCV000134895] Chr5:114707561..126507744 [GRCh38]
Chr5:114043258..125843436 [GRCh37]
Chr5:114071157..125871335 [NCBI36]
Chr5:5q22.3-23.2		 pathogenic
GRCh38/hg38 5q22.1-23.2(chr5:111463016-127193038)x1 copy number loss See cases [RCV000135549] Chr5:111463016..127193038 [GRCh38]
Chr5:110798714..126528730 [GRCh37]
Chr5:110826613..126556629 [NCBI36]
Chr5:5q22.1-23.2		 pathogenic
GRCh38/hg38 5q23.1(chr5:120089369-121434433)x1 copy number loss See cases [RCV000136678] Chr5:120089369..121434433 [GRCh38]
Chr5:119425064..120770128 [GRCh37]
Chr5:119452963..120798027 [NCBI36]
Chr5:5q23.1		 likely benign|uncertain significance
GRCh38/hg38 5q22.1-23.3(chr5:110687442-130103838)x1 copy number loss See cases [RCV000139235] Chr5:110687442..130103838 [GRCh38]
Chr5:110023143..129439531 [GRCh37]
Chr5:110051042..129467430 [NCBI36]
Chr5:5q22.1-23.3		 pathogenic|uncertain significance
GRCh38/hg38 5q14.3-23.3(chr5:90374606-128076423)x1 copy number loss See cases [RCV000139893] Chr5:90374606..128076423 [GRCh38]
Chr5:89670423..127412115 [GRCh37]
Chr5:89706179..127440014 [NCBI36]
Chr5:5q14.3-23.3		 pathogenic
GRCh38/hg38 5q21.3-23.2(chr5:108308463-125777797)x1 copy number loss See cases [RCV000143326] Chr5:108308463..125777797 [GRCh38]
Chr5:107644164..125113490 [GRCh37]
Chr5:107672063..125141389 [NCBI36]
Chr5:5q21.3-23.2		 pathogenic
GRCh38/hg38 5q14.3-31.1(chr5:91411708-131319563)x1 copy number loss See cases [RCV000143746] Chr5:91411708..131319563 [GRCh38]
Chr5:90707525..130655256 [GRCh37]
Chr5:90743281..130683155 [NCBI36]
Chr5:5q14.3-31.1		 pathogenic
GRCh38/hg38 5q23.1-23.2(chr5:120695675-124525372)x1 copy number loss See cases [RCV000051200] Chr5:120695675..124525372 [GRCh38]
Chr5:120031370..123861065 [GRCh37]
Chr5:120059269..123888964 [NCBI36]
Chr5:5q23.1-23.2		 pathogenic
GRCh38/hg38 5q23.1-23.2(chr5:120739630-126823984)x1 copy number loss See cases [RCV000052108] Chr5:120739630..126823984 [GRCh38]
Chr5:120075325..126159676 [GRCh37]
Chr5:120103224..126187575 [NCBI36]
Chr5:5q23.1-23.2		 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 5q22.1-23.2(chr5:110407606-122522885)x1 copy number loss See cases [RCV000446959] Chr5:110407606..122522885 [GRCh37]
Chr5:5q22.1-23.2		 pathogenic
GRCh37/hg19 5q21.1-23.2(chr5:100607918-125900735)x1 copy number loss See cases [RCV000445968] Chr5:100607918..125900735 [GRCh37]
Chr5:5q21.1-23.2		 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 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 5q23.1(chr5:119354448-120770069)x1 copy number loss See cases [RCV000448479] Chr5:119354448..120770069 [GRCh37]
Chr5:5q23.1		 benign
GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1 copy number loss See cases [RCV000511978] Chr5:17628741..176575720 [GRCh37]
Chr5:5p15.1-q35.2		 pathogenic
GRCh37/hg19 5q23.1(chr5:119299325-120814719)x1 copy number loss See cases [RCV000511979] Chr5:119299325..120814719 [GRCh37]
Chr5:5q23.1		 likely benign
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 5q23.1(chr5:119328169-121159273)x1 copy number loss See cases [RCV000510968] Chr5:119328169..121159273 [GRCh37]
Chr5:5q23.1		 uncertain significance
NM_001300783.2(PRR16):c.207T>G (p.Asp69Glu) single nucleotide variant not specified [RCV004290862] Chr5:120686001 [GRCh38]
Chr5:120021696 [GRCh37]
Chr5:5q23.1		 uncertain significance
NC_000005.9:g.(?_86400000)_(154000000_?)del deletion Familial adenomatous polyposis 1 [RCV004561496]|Hereditary cancer-predisposing syndrome [RCV000554476] Chr5:86400000..154000000 [GRCh37]
Chr5:5q14.3-33.2		 pathogenic
NM_001300783.2(PRR16):c.255T>A (p.Ser85Arg) single nucleotide variant not specified [RCV004307433] Chr5:120686049 [GRCh38]
Chr5:120021744 [GRCh37]
Chr5:5q23.1		 uncertain significance
GRCh37/hg19 5q23.1(chr5:119965198-120214834)x1 copy number loss See cases [RCV000512171] Chr5:119965198..120214834 [GRCh37]
Chr5:5q23.1		 uncertain significance
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 5q23.1(chr5:119803829-119901028)x1 copy number loss not provided [RCV000745133] Chr5:119803829..119901028 [GRCh37]
Chr5:5q23.1		 benign
GRCh37/hg19 5q23.1(chr5:119969462-119978197)x0 copy number loss not provided [RCV000745134] Chr5:119969462..119978197 [GRCh37]
Chr5:5q23.1		 benign
GRCh37/hg19 5q23.1(chr5:119969462-119992297)x0 copy number loss not provided [RCV000745135] Chr5:119969462..119992297 [GRCh37]
Chr5:5q23.1		 benign
Single allele deletion Neurodevelopmental disorder [RCV000787436] Chr5:14685137..149511942 [GRCh37]
Chr5:5p15.2-q32		 uncertain significance
GRCh37/hg19 5q23.1(chr5:119652022-119810070)x1 copy number loss not provided [RCV001005730] Chr5:119652022..119810070 [GRCh37]
Chr5:5q23.1		 likely benign
GRCh37/hg19 5q23.1(chr5:119293947-120814758)x1 copy number loss not provided [RCV001005729] Chr5:119293947..120814758 [GRCh37]
Chr5:5q23.1		 likely benign
GRCh37/hg19 5q23.1(chr5:117373700-121001806)x1 copy number loss not provided [RCV000849434] Chr5:117373700..121001806 [GRCh37]
Chr5:5q23.1		 uncertain significance
GRCh37/hg19 5q14.3-23.3(chr5:89949118-129317455)x3 copy number gain not provided [RCV000849289] Chr5:89949118..129317455 [GRCh37]
Chr5:5q14.3-23.3		 pathogenic
GRCh37/hg19 5q21.3-23.1(chr5:108304806-121335239)x1 copy number loss not provided [RCV000846246] Chr5:108304806..121335239 [GRCh37]
Chr5:5q21.3-23.1		 pathogenic
GRCh37/hg19 5q23.1(chr5:119293947-120122543)x3 copy number gain not provided [RCV001259911] Chr5:119293947..120122543 [GRCh37]
Chr5:5q23.1		 likely benign
GRCh37/hg19 5q23.1(chr5:119346619-120426118)x3 copy number gain not provided [RCV001259912] Chr5:119346619..120426118 [GRCh37]
Chr5:5q23.1		 likely benign
GRCh37/hg19 5q23.1(chr5:119774502-119917830)x1 copy number loss not provided [RCV001259913] Chr5:119774502..119917830 [GRCh37]
Chr5:5q23.1		 uncertain significance
GRCh37/hg19 5q23.1(chr5:116419511-120022321)x3 copy number gain not provided [RCV001535439] Chr5:116419511..120022321 [GRCh37]
Chr5:5q23.1		 not provided
GRCh37/hg19 5q23.1(chr5:120009035-120230180)x3 copy number gain not provided [RCV001836496] Chr5:120009035..120230180 [GRCh37]
Chr5:5q23.1		 likely benign
GRCh37/hg19 5q21.1-23.2(chr5:100607918-125900735) copy number loss not specified [RCV002053515] Chr5:100607918..125900735 [GRCh37]
Chr5:5q21.1-23.2		 pathogenic
GRCh37/hg19 5q23.1(chr5:116399071-120032310)x3 copy number gain not provided [RCV002472416] Chr5:116399071..120032310 [GRCh37]
Chr5:5q23.1		 uncertain significance
NM_001300783.2(PRR16):c.344C>T (p.Thr115Met) single nucleotide variant not specified [RCV004236792] Chr5:120686138 [GRCh38]
Chr5:120021833 [GRCh37]
Chr5:5q23.1		 uncertain significance
NM_001300783.2(PRR16):c.797G>C (p.Gly266Ala) single nucleotide variant not specified [RCV004211958] Chr5:120686591 [GRCh38]
Chr5:120022286 [GRCh37]
Chr5:5q23.1		 uncertain significance
GRCh37/hg19 5q22.2-23.3(chr5:112557391-128106299)x1 copy number loss not provided [RCV002475732] Chr5:112557391..128106299 [GRCh37]
Chr5:5q22.2-23.3		 pathogenic
NM_001300783.2(PRR16):c.668G>C (p.Arg223Pro) single nucleotide variant not specified [RCV004083193] Chr5:120686462 [GRCh38]
Chr5:120022157 [GRCh37]
Chr5:5q23.1		 uncertain significance
NM_001300783.2(PRR16):c.611G>A (p.Arg204Gln) single nucleotide variant not specified [RCV004216112] Chr5:120686405 [GRCh38]
Chr5:120022100 [GRCh37]
Chr5:5q23.1		 uncertain significance
NM_001300783.2(PRR16):c.374C>A (p.Pro125His) single nucleotide variant not specified [RCV004076438] Chr5:120686168 [GRCh38]
Chr5:120021863 [GRCh37]
Chr5:5q23.1		 uncertain significance
NM_001300783.2(PRR16):c.877A>C (p.Lys293Gln) single nucleotide variant not specified [RCV004122881] Chr5:120686671 [GRCh38]
Chr5:120022366 [GRCh37]
Chr5:5q23.1		 uncertain significance
NM_001300783.2(PRR16):c.236C>T (p.Thr79Met) single nucleotide variant not specified [RCV004069603] Chr5:120686030 [GRCh38]
Chr5:120021725 [GRCh37]
Chr5:5q23.1		 uncertain significance
NM_001300783.2(PRR16):c.284T>C (p.Ile95Thr) single nucleotide variant not specified [RCV004084268] Chr5:120686078 [GRCh38]
Chr5:120021773 [GRCh37]
Chr5:5q23.1		 uncertain significance
NM_001300783.2(PRR16):c.829C>A (p.Pro277Thr) single nucleotide variant not specified [RCV004250976] Chr5:120686623 [GRCh38]
Chr5:120022318 [GRCh37]
Chr5:5q23.1		 uncertain significance
NM_001300783.2(PRR16):c.509A>G (p.Asp170Gly) single nucleotide variant not specified [RCV004342071] Chr5:120686303 [GRCh38]
Chr5:120021998 [GRCh37]
Chr5:5q23.1		 uncertain significance
GRCh37/hg19 5q23.1-23.2(chr5:119452524-121673870)x1 copy number loss not provided [RCV003485477] Chr5:119452524..121673870 [GRCh37]
Chr5:5q23.1-23.2		 likely pathogenic
GRCh37/hg19 5q15-23.2(chr5:93828571-123711334)x1 copy number loss not specified [RCV003986577] Chr5:93828571..123711334 [GRCh37]
Chr5:5q15-23.2		 pathogenic
NM_001300783.2(PRR16):c.262A>G (p.Thr88Ala) single nucleotide variant not specified [RCV004507718] Chr5:120686056 [GRCh38]
Chr5:120021751 [GRCh37]
Chr5:5q23.1		 uncertain significance
NM_001300783.2(PRR16):c.439G>T (p.Val147Leu) single nucleotide variant not specified [RCV004507719] Chr5:120686233 [GRCh38]
Chr5:120021928 [GRCh37]
Chr5:5q23.1		 uncertain significance
NM_001300783.2(PRR16):c.635A>G (p.Gln212Arg) single nucleotide variant not specified [RCV004507721] Chr5:120686429 [GRCh38]
Chr5:120022124 [GRCh37]
Chr5:5q23.1		 uncertain significance
NM_001300783.2(PRR16):c.159+16610C>A single nucleotide variant not specified [RCV004507720] Chr5:120481255 [GRCh38]
Chr5:119816950 [GRCh37]
Chr5:5q23.1		 uncertain significance
NM_001300783.2(PRR16):c.460C>G (p.Leu154Val) single nucleotide variant not specified [RCV004660408] Chr5:120686254 [GRCh38]
Chr5:120021949 [GRCh37]
Chr5:5q23.1		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:854
Count of miRNA genes:398
Interacting mature miRNAs:434
Transcripts:ENST00000379551, ENST00000407149, ENST00000446965, ENST00000505123, ENST00000509923
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407242502GWAS891478_Hmajor depressive disorder QTL GWAS891478 (human)3e-09major depressive disorder5120585025120585026Human
407006403GWAS655379_HFEV/FVC ratio QTL GWAS655379 (human)3e-18FEV/FVC ratioforced expiratory volume to forced vital capacity ratio (CMO:0000241)5120759853120759854Human
407352964GWAS1001940_Heducational attainment QTL GWAS1001940 (human)1e-25educational attainment5120766858120766859Human
407352963GWAS1001939_Heducational attainment QTL GWAS1001939 (human)7e-10educational attainment5120612017120612018Human
407389135GWAS1038111_Hself reported educational attainment QTL GWAS1038111 (human)4e-08self reported educational attainment5120767478120767479Human
407282189GWAS931165_Hbody height QTL GWAS931165 (human)9e-09body height (VT:0001253)body height (CMO:0000106)5120707308120707309Human
407282187GWAS931163_Hbody height QTL GWAS931163 (human)1e-09body height (VT:0001253)body height (CMO:0000106)5120548081120548082Human
407095566GWAS744542_Hcognitive function measurement, language measurement QTL GWAS744542 (human)0.000005cognitive function measurement, language measurement5120583352120583353Human
407400134GWAS1049110_Hself reported educational attainment QTL GWAS1049110 (human)3e-16self reported educational attainment5120766333120766334Human
407089361GWAS738337_Hankle injury QTL GWAS738337 (human)0.000007ankle injury5120487660120487661Human
407095568GWAS744544_Hcognitive function measurement QTL GWAS744544 (human)0.000001cognitive function measurement5120583352120583353Human
407349853GWAS998829_Hself reported educational attainment QTL GWAS998829 (human)0.0000002self reported educational attainment5120765999120766000Human
407045599GWAS694575_Hbody height QTL GWAS694575 (human)2e-11body height (VT:0001253)body height (CMO:0000106)5120531487120531488Human
407273882GWAS922858_Hbody height QTL GWAS922858 (human)2e-56body height (VT:0001253)body height (CMO:0000106)5120531487120531488Human
407031452GWAS680428_Hunipolar depression QTL GWAS680428 (human)2e-09unipolar depression5120773424120773425Human
406931361GWAS580337_Hinfection QTL GWAS580337 (human)4e-10infection5120541034120541035Human
407337316GWAS986292_Hinsomnia QTL GWAS986292 (human)3e-12insomnia5120726163120726164Human
407337315GWAS986291_Hinsomnia QTL GWAS986291 (human)2e-08insomnia5120722105120722106Human
407372140GWAS1021116_Hself reported educational attainment QTL GWAS1021116 (human)2e-15self reported educational attainment5120766333120766334Human
406912297GWAS561273_Hself reported educational attainment QTL GWAS561273 (human)5e-08self reported educational attainment5120734270120734271Human
407061288GWAS710264_Hage of onset of multiple sclerosis QTL GWAS710264 (human)0.000004age of onset of multiple sclerosis5120480425120480426Human
406911788GWAS560764_Hself reported educational attainment QTL GWAS560764 (human)0.000001self reported educational attainment5120734270120734271Human
407360488GWAS1009464_Hinsomnia QTL GWAS1009464 (human)4e-12insomnia5120755182120755183Human
407334577GWAS983553_Hinsomnia QTL GWAS983553 (human)5e-09insomnia5120759719120759720Human
407373183GWAS1022159_Hmathematical ability QTL GWAS1022159 (human)2e-10mathematical ability5120758163120758164Human
406920953GWAS569929_Hunipolar depression, mood disorder QTL GWAS569929 (human)1e-08unipolar depression, mood disorder5120683373120683374Human
407388658GWAS1037634_Hself reported educational attainment QTL GWAS1037634 (human)4e-08self reported educational attainment5120766333120766334Human
406929402GWAS578378_Hcerebral amyloid angiopathy QTL GWAS578378 (human)0.000004cerebral amyloid angiopathy5120518680120518681Human
406907835GWAS556811_Hresponse to vaccine, cytokine measurement QTL GWAS556811 (human)9e-08response to vaccine, cytokine measurementblood cytokine measurement (CMO:0001924)5120601996120601997Human
406900734GWAS549710_Hbody weight QTL GWAS549710 (human)0.000004body mass (VT:0001259)body weight (CMO:0000012)5120478610120478611Human
407203899GWAS852875_HFEV/FVC ratio QTL GWAS852875 (human)1e-27FEV/FVC ratioforced expiratory volume to forced vital capacity ratio (CMO:0000241)5120786999120787000Human

Markers in Region
RH120033  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375119,806,726 - 119,807,036UniSTSGRCh37
Build 365119,834,625 - 119,834,935RGDNCBI36
Celera5115,758,199 - 115,758,509RGD
Cytogenetic Map5q23.1UniSTS
HuRef5114,999,169 - 114,999,479UniSTS
TNG Radiation Hybrid Map555093.0UniSTS
RH122868  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375119,889,008 - 119,889,302UniSTSGRCh37
Build 365119,916,907 - 119,917,201RGDNCBI36
Celera5115,840,475 - 115,840,769RGD
Cytogenetic Map5q23.1UniSTS
HuRef5115,081,694 - 115,081,988UniSTS
TNG Radiation Hybrid Map555128.0UniSTS
G59165  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375119,807,301 - 119,807,603UniSTSGRCh37
Build 365119,835,200 - 119,835,502RGDNCBI36
Celera5115,758,774 - 115,759,076RGD
Cytogenetic Map5q23.1UniSTS
HuRef5114,999,744 - 115,000,046UniSTS
TNG Radiation Hybrid Map555080.0UniSTS
G59612  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375119,846,218 - 119,846,340UniSTSGRCh37
Build 365119,874,117 - 119,874,239RGDNCBI36
Celera5115,797,683 - 115,797,805RGD
Cytogenetic Map5q23.1UniSTS
HuRef5115,038,902 - 115,039,024UniSTS
TNG Radiation Hybrid Map555106.0UniSTS
SHGC-110858  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375119,911,584 - 119,911,688UniSTSGRCh37
Build 365119,939,483 - 119,939,587RGDNCBI36
Celera5115,863,051 - 115,863,155RGD
Cytogenetic Map5q23.1UniSTS
HuRef5115,104,272 - 115,104,376UniSTS
TNG Radiation Hybrid Map555137.0UniSTS
SHGC-111182  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375119,818,387 - 119,818,667UniSTSGRCh37
Build 365119,846,286 - 119,846,566RGDNCBI36
Celera5115,769,859 - 115,770,139RGD
Cytogenetic Map5q23.1UniSTS
HuRef5115,010,829 - 115,011,109UniSTS
TNG Radiation Hybrid Map555074.0UniSTS
SHGC-111918  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375119,956,151 - 119,956,433UniSTSGRCh37
Build 365119,984,050 - 119,984,332RGDNCBI36
Celera5115,907,621 - 115,907,903RGD
Cytogenetic Map5q23.1UniSTS
HuRef5115,148,843 - 115,149,125UniSTS
TNG Radiation Hybrid Map576859.0UniSTS
SHGC-142656  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375119,997,462 - 119,997,808UniSTSGRCh37
Build 365120,025,361 - 120,025,707RGDNCBI36
Celera5115,948,875 - 115,949,221RGD
Cytogenetic Map5q23.1UniSTS
HuRef5115,190,098 - 115,190,444UniSTS
TNG Radiation Hybrid Map576891.0UniSTS
G54587  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375119,846,211 - 119,846,360UniSTSGRCh37
Celera5115,797,676 - 115,797,825UniSTS
Cytogenetic Map5q23.1UniSTS
HuRef5115,038,895 - 115,039,044UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
1204 2352 2788 2227 4947 1688 2271 3 590 1379 432 2267 6642 5910 38 3711 843 1707 1571 171

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001300783 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001308087 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001308088 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_016644 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011543452 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011543453 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011543454 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047417289 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047417290 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047417291 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047417292 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054352775 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054352776 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054352777 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001742093 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001742094 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008487123 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008487124 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008487125 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC093301 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC104110 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC113418 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC114274 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC114284 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC144990 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF242769 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI572206 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC038838 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC092474 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM728431 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471086 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068273 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA328660 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC877090 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000379551   ⟹   ENSP00000368869
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5120,464,324 - 120,687,332 (+)Ensembl
Ensembl Acc Id: ENST00000407149   ⟹   ENSP00000385118
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5120,464,300 - 120,687,314 (+)Ensembl
Ensembl Acc Id: ENST00000446965   ⟹   ENSP00000405491
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5120,617,137 - 120,686,925 (+)Ensembl
Ensembl Acc Id: ENST00000505123   ⟹   ENSP00000423446
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5120,531,464 - 120,686,930 (+)Ensembl
Ensembl Acc Id: ENST00000509923   ⟹   ENSP00000421256
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5120,465,631 - 120,686,431 (+)Ensembl
RefSeq Acc Id: NM_001300783   ⟹   NP_001287712
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385120,464,300 - 120,687,314 (+)NCBI
CHM1_15119,232,987 - 119,455,988 (+)NCBI
T2T-CHM13v2.05120,982,317 - 121,205,306 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001308087   ⟹   NP_001295016
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385120,465,626 - 120,687,314 (+)NCBI
CHM1_15119,234,340 - 119,455,988 (+)NCBI
T2T-CHM13v2.05120,983,643 - 121,205,306 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001308088   ⟹   NP_001295017
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385120,531,464 - 120,687,332 (+)NCBI
CHM1_15119,300,181 - 119,455,988 (+)NCBI
T2T-CHM13v2.05121,049,490 - 121,205,324 (+)NCBI
Sequence:
RefSeq Acc Id: NM_016644   ⟹   NP_057728
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385120,464,300 - 120,687,314 (+)NCBI
GRCh375119,799,973 - 120,023,009 (+)NCBI
Build 365119,827,918 - 120,050,864 (+)NCBI Archive
Celera5115,751,492 - 115,974,376 (+)RGD
HuRef5114,992,462 - 115,215,612 (+)ENTREZGENE
CHM1_15119,232,987 - 119,455,988 (+)NCBI
T2T-CHM13v2.05120,982,317 - 121,205,306 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011543452   ⟹   XP_011541754
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385120,551,142 - 120,687,332 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047417289   ⟹   XP_047273245
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385120,464,278 - 120,794,594 (+)NCBI
RefSeq Acc Id: XM_047417290   ⟹   XP_047273246
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385120,617,095 - 120,687,332 (+)NCBI
RefSeq Acc Id: XM_047417291   ⟹   XP_047273247
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385120,617,095 - 120,687,332 (+)NCBI
RefSeq Acc Id: XM_047417292   ⟹   XP_047273248
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385120,465,631 - 120,794,594 (+)NCBI
RefSeq Acc Id: XM_054352775   ⟹   XP_054208750
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.05121,067,368 - 121,205,324 (+)NCBI
RefSeq Acc Id: XM_054352776   ⟹   XP_054208751
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.05121,135,142 - 121,205,324 (+)NCBI
RefSeq Acc Id: XM_054352777   ⟹   XP_054208752
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.05121,135,142 - 121,205,324 (+)NCBI
RefSeq Acc Id: XR_008487123
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.05120,982,295 - 121,312,571 (+)NCBI
RefSeq Acc Id: XR_008487124
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.05120,982,295 - 121,233,735 (+)NCBI
RefSeq Acc Id: XR_008487125
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.05120,983,648 - 121,312,571 (+)NCBI
RefSeq Acc Id: NP_057728   ⟸   NM_016644
- Peptide Label: isoform 2
- UniProtKB: A0A0A0MSW7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001287712   ⟸   NM_001300783
- Peptide Label: isoform 1
- UniProtKB: Q8IXY1 (UniProtKB/Swiss-Prot),   D3DSZ0 (UniProtKB/Swiss-Prot),   Q9NYI5 (UniProtKB/Swiss-Prot),   Q569H4 (UniProtKB/Swiss-Prot),   A0A0A0MSW7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011541754   ⟸   XM_011543452
- Peptide Label: isoform X2
- UniProtKB: A0A0A0MSW7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001295016   ⟸   NM_001308087
- Peptide Label: isoform 3
- UniProtKB: A0A0A0MSW7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001295017   ⟸   NM_001308088
- Peptide Label: isoform 3
- UniProtKB: A0A0A0MSW7 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000423446   ⟸   ENST00000505123
Ensembl Acc Id: ENSP00000421256   ⟸   ENST00000509923
Ensembl Acc Id: ENSP00000368869   ⟸   ENST00000379551
Ensembl Acc Id: ENSP00000385118   ⟸   ENST00000407149
Ensembl Acc Id: ENSP00000405491   ⟸   ENST00000446965
RefSeq Acc Id: XP_047273245   ⟸   XM_047417289
- Peptide Label: isoform X1
- UniProtKB: Q8IXY1 (UniProtKB/Swiss-Prot),   Q569H4 (UniProtKB/Swiss-Prot),   D3DSZ0 (UniProtKB/Swiss-Prot),   Q9NYI5 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047273248   ⟸   XM_047417292
- Peptide Label: isoform X3
RefSeq Acc Id: XP_047273246   ⟸   XM_047417290
- Peptide Label: isoform X3
RefSeq Acc Id: XP_047273247   ⟸   XM_047417291
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054208750   ⟸   XM_054352775
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054208751   ⟸   XM_054352776
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054208752   ⟸   XM_054352777
- Peptide Label: isoform X3

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q569H4-F1-model_v2 AlphaFold Q569H4 1-304 view protein structure

Promoters
RGD ID:6803481
Promoter ID:HG_KWN:50897
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:ENST00000379551,   UC003KSQ.1
Position:
Human AssemblyChrPosition (strand)Source
Build 365119,827,571 - 119,828,071 (+)MPROMDB
RGD ID:6870364
Promoter ID:EPDNEW_H8347
Type:initiation region
Name:PRR16_1
Description:proline rich 16
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
GRCh385120,464,300 - 120,464,360EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:29654 AgrOrtholog
COSMIC PRR16 COSMIC
Ensembl Genes ENSG00000184838 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000379551 ENTREZGENE
  ENST00000379551.2 UniProtKB/Swiss-Prot
  ENST00000407149 ENTREZGENE
  ENST00000407149.7 UniProtKB/Swiss-Prot
  ENST00000446965.2 UniProtKB/TrEMBL
  ENST00000505123 ENTREZGENE
  ENST00000505123.5 UniProtKB/Swiss-Prot
  ENST00000509923.1 UniProtKB/TrEMBL
GTEx ENSG00000184838 GTEx
HGNC ID HGNC:29654 ENTREZGENE
Human Proteome Map PRR16 Human Proteome Map
InterPro Largen/INSYN1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:51334 UniProtKB/Swiss-Prot
NCBI Gene 51334 ENTREZGENE
OMIM 615931 OMIM
PANTHER PROTEIN LARGEN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR15917 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam DUF4589 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA162400155 PharmGKB
UniProt A0A0A0MSW7 ENTREZGENE, UniProtKB/TrEMBL
  D3DSZ0 ENTREZGENE
  D6RGF0_HUMAN UniProtKB/TrEMBL
  LARGN_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q8IXY1 ENTREZGENE
  Q9NYI5 ENTREZGENE
UniProt Secondary D3DSZ0 UniProtKB/Swiss-Prot
  Q8IXY1 UniProtKB/Swiss-Prot
  Q9NYI5 UniProtKB/Swiss-Prot