PUS7L (pseudouridine synthase 7 like) - Rat Genome Database

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Gene: PUS7L (pseudouridine synthase 7 like) Homo sapiens
Analyze
Symbol: PUS7L
Name: pseudouridine synthase 7 like
RGD ID: 1606495
HGNC Page HGNC:25276
Description: Enables pseudouridine synthase activity. Involved in mRNA pseudouridine synthesis. Predicted to be active in nucleus.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: DKFZp434G1415; DKFZp781B2386; FLJ34711; FLJ40012; pseudouridylate synthase 7 homolog (S. cerevisiae)-like; pseudouridylate synthase 7 homolog-like; pseudouridylate synthase 7 homolog-like protein; pseudouridylate synthase 7 like; pseudouridylate synthase 7-like; pseudouridylate synthase PUS7L
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
GRCh381243,718,992 - 43,758,790 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1243,718,992 - 43,758,793 (-)EnsemblGRCh38hg38GRCh38
GRCh371244,112,795 - 44,152,593 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361242,408,677 - 42,438,863 (-)NCBINCBI36Build 36hg18NCBI36
Celera1242,924,817 - 42,954,984 (-)NCBICelera
Cytogenetic Map12q12NCBI
HuRef1241,149,655 - 41,179,837 (-)NCBIHuRef
CHM1_11244,087,399 - 44,117,606 (-)NCBICHM1_1
T2T-CHM13v2.01243,677,351 - 43,717,488 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
nucleus  (IBA)

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8125298   PMID:11076863   PMID:11230166   PMID:12477932   PMID:14702039   PMID:15489336   PMID:16344560   PMID:16381901   PMID:19913121   PMID:20379614   PMID:20628086   PMID:21832049  
PMID:21873635   PMID:22610502   PMID:23314748   PMID:25416956   PMID:26496610   PMID:27455993   PMID:27565346   PMID:28514442   PMID:31515488   PMID:32296183   PMID:32807901   PMID:33961781  
PMID:35051350   PMID:35831314   PMID:37827155  


Genomics

Comparative Map Data
PUS7L
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381243,718,992 - 43,758,790 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1243,718,992 - 43,758,793 (-)EnsemblGRCh38hg38GRCh38
GRCh371244,112,795 - 44,152,593 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361242,408,677 - 42,438,863 (-)NCBINCBI36Build 36hg18NCBI36
Celera1242,924,817 - 42,954,984 (-)NCBICelera
Cytogenetic Map12q12NCBI
HuRef1241,149,655 - 41,179,837 (-)NCBIHuRef
CHM1_11244,087,399 - 44,117,606 (-)NCBICHM1_1
T2T-CHM13v2.01243,677,351 - 43,717,488 (-)NCBIT2T-CHM13v2.0
Pus7l
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391594,420,521 - 94,441,397 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1594,420,569 - 94,441,428 (-)EnsemblGRCm39 Ensembl
GRCm381594,522,640 - 94,543,534 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1594,522,688 - 94,543,547 (-)EnsemblGRCm38mm10GRCm38
MGSCv371594,353,071 - 94,373,938 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361594,350,820 - 94,371,670 (-)NCBIMGSCv36mm8
Celera1596,666,812 - 96,687,694 (-)NCBICelera
Cytogenetic Map15E3NCBI
cM Map1548.52NCBI
Pus7l
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr87127,538,785 - 127,561,936 (-)NCBIGRCr8
mRatBN7.27125,659,507 - 125,706,582 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl7125,659,507 - 125,682,333 (-)EnsemblmRatBN7.2 Ensembl
Rnor_6.07135,765,307 - 135,803,818 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl7135,765,303 - 135,800,481 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.07135,423,778 - 135,461,175 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.47133,032,032 - 133,051,933 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.17133,109,101 - 133,129,308 (-)NCBI
Celera7122,049,753 - 122,072,371 (-)NCBICelera
Cytogenetic Map7q35NCBI
Pus7l
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555002,989,764 - 3,010,129 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049555002,992,767 - 3,010,129 (-)NCBIChiLan1.0ChiLan1.0
PUS7L
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21050,414,606 - 50,452,253 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11250,411,365 - 50,441,997 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01244,972,561 - 45,012,881 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11245,841,619 - 45,872,323 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1245,841,678 - 45,872,317 (+)Ensemblpanpan1.1panPan2
PUS7L
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12710,341,082 - 10,368,797 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2710,340,681 - 10,384,002 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2735,937,844 - 35,967,153 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02710,530,323 - 10,558,639 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2710,530,312 - 10,579,822 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12710,341,917 - 10,371,219 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02710,376,122 - 10,405,023 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02736,179,740 - 36,208,636 (-)NCBIUU_Cfam_GSD_1.0
Pus7l
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494570,916,758 - 70,947,191 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365122,218,013 - 2,248,060 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365122,217,581 - 2,248,079 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PUS7L
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl574,806,152 - 74,834,428 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1574,805,634 - 74,835,135 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2577,617,826 - 77,647,226 (-)NCBISscrofa10.2Sscrofa10.2susScr3
PUS7L
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11139,937,717 - 39,967,681 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1139,936,797 - 39,964,155 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666037206,545,635 - 206,576,547 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Pus7l
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248168,808,137 - 8,834,618 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in PUS7L
54 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 12q12-13.11(chr12:38590101-46551898)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052809]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052809]|See cases [RCV000052809] Chr12:38590101..46551898 [GRCh38]
Chr12:38983903..46945681 [GRCh37]
Chr12:37270170..45231948 [NCBI36]
Chr12:12q12-13.11		 pathogenic
GRCh38/hg38 12q12(chr12:43514638-44793576)x3 copy number gain See cases [RCV000135651] Chr12:43514638..44793576 [GRCh38]
Chr12:43908441..45187359 [GRCh37]
Chr12:42194708..43473626 [NCBI36]
Chr12:12q12		 uncertain significance
GRCh38/hg38 12q12-13.11(chr12:40713887-46551900)x1 copy number loss See cases [RCV000138626] Chr12:40713887..46551900 [GRCh38]
Chr12:41107689..46945683 [GRCh37]
Chr12:39393956..45231950 [NCBI36]
Chr12:12q12-13.11		 pathogenic
GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3 copy number gain See cases [RCV000139555] Chr12:121271..133196807 [GRCh38]
Chr12:282465..133773393 [GRCh37]
Chr12:100698..132283466 [NCBI36]
Chr12:12p13.33-q24.33		 pathogenic
GRCh38/hg38 12q12(chr12:43477600-44820113)x4 copy number gain See cases [RCV000143737] Chr12:43477600..44820113 [GRCh38]
Chr12:43871403..45213896 [GRCh37]
Chr12:42157670..43500163 [NCBI36]
Chr12:12q12		 likely benign
GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3 copy number gain See cases [RCV000258805] Chr12:1..133851895 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic|likely pathogenic
GRCh37/hg19 12p11.21-q13.12(chr12:31886971-50360461)x3 copy number gain See cases [RCV000207454] Chr12:31886971..50360461 [GRCh37]
Chr12:12p11.21-q13.12		 pathogenic
GRCh37/hg19 12q12(chr12:44091295-44351370)x1 copy number loss See cases [RCV000446778] Chr12:44091295..44351370 [GRCh37]
Chr12:12q12		 likely benign
GRCh37/hg19 12q12(chr12:44123794-44222722)x1 copy number loss See cases [RCV000445944] Chr12:44123794..44222722 [GRCh37]
Chr12:12q12		 likely benign
GRCh37/hg19 12q11-13.12(chr12:37857750-49791459)x3 copy number gain See cases [RCV000448835] Chr12:37857750..49791459 [GRCh37]
Chr12:12q11-13.12		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3 copy number gain See cases [RCV000510482] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902) copy number gain See cases [RCV000511643] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12q12(chr12:44091295-44354797)x1 copy number loss not provided [RCV000683413] Chr12:44091295..44354797 [GRCh37]
Chr12:12q12		 uncertain significance
GRCh37/hg19 12q12(chr12:44090896-44343135)x1 copy number loss not provided [RCV000683410] Chr12:44090896..44343135 [GRCh37]
Chr12:12q12		 likely benign
NC_000012.11:g.26370251_54361538inv inversion not specified [RCV000714265] Chr12:26370251..54361538 [GRCh37]
Chr12:12p12.1-q13.13		 uncertain significance
GRCh37/hg19 12p13.33-q24.33(chr12:621220-133779118)x3 copy number gain not provided [RCV000750253] Chr12:621220..133779118 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:191619-133777645)x3 copy number gain not provided [RCV000750246] Chr12:191619..133777645 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12q12(chr12:44132928-44244270)x3 copy number gain not provided [RCV000737863] Chr12:44132928..44244270 [GRCh37]
Chr12:12q12		 benign
NM_031292.5(PUS7L):c.107T>C (p.Val36Ala) single nucleotide variant not specified [RCV004308839] Chr12:43755139 [GRCh38]
Chr12:44148942 [GRCh37]
Chr12:12q12		 uncertain significance
NM_031292.5(PUS7L):c.251G>A (p.Arg84Lys) single nucleotide variant not specified [RCV004308068] Chr12:43754995 [GRCh38]
Chr12:44148798 [GRCh37]
Chr12:12q12		 uncertain significance
NM_031292.5(PUS7L):c.1721G>A (p.Ser574Asn) single nucleotide variant not specified [RCV004311796] Chr12:43736385 [GRCh38]
Chr12:44130188 [GRCh37]
Chr12:12q12		 uncertain significance
GRCh37/hg19 12q12(chr12:44080990-44354797)x1 copy number loss not provided [RCV002473805] Chr12:44080990..44354797 [GRCh37]
Chr12:12q12		 uncertain significance
GRCh37/hg19 12q12(chr12:43953566-46197331)x3 copy number gain not provided [RCV001259138] Chr12:43953566..46197331 [GRCh37]
Chr12:12q12		 uncertain significance
GRCh37/hg19 12q11-13.12(chr12:37873948-49578619)x3 copy number gain See cases [RCV001353185] Chr12:37873948..49578619 [GRCh37]
Chr12:12q11-13.12		 likely pathogenic
GRCh37/hg19 12q11-13.12(chr12:37857750-49791459) copy number gain not specified [RCV002052988] Chr12:37857750..49791459 [GRCh37]
Chr12:12q11-13.12		 pathogenic
NM_031292.5(PUS7L):c.273G>C (p.Leu91Phe) single nucleotide variant not specified [RCV004086599] Chr12:43754973 [GRCh38]
Chr12:44148776 [GRCh37]
Chr12:12q12		 uncertain significance
NM_031292.5(PUS7L):c.815C>T (p.Pro272Leu) single nucleotide variant not specified [RCV004218313] Chr12:43754431 [GRCh38]
Chr12:44148234 [GRCh37]
Chr12:12q12		 uncertain significance
NM_031292.5(PUS7L):c.1777C>G (p.Gln593Glu) single nucleotide variant not specified [RCV004196709] Chr12:43731707 [GRCh38]
Chr12:44125510 [GRCh37]
Chr12:12q12		 uncertain significance
NM_031292.5(PUS7L):c.1291C>T (p.Pro431Ser) single nucleotide variant not specified [RCV004162907] Chr12:43742528 [GRCh38]
Chr12:44136331 [GRCh37]
Chr12:12q12		 uncertain significance
NM_031292.5(PUS7L):c.1453A>G (p.Lys485Glu) single nucleotide variant not specified [RCV004186852] Chr12:43736653 [GRCh38]
Chr12:44130456 [GRCh37]
Chr12:12q12		 uncertain significance
NM_031292.5(PUS7L):c.151G>A (p.Asp51Asn) single nucleotide variant not specified [RCV004191543] Chr12:43755095 [GRCh38]
Chr12:44148898 [GRCh37]
Chr12:12q12		 likely benign
NM_031292.5(PUS7L):c.2047C>T (p.Leu683Phe) single nucleotide variant not specified [RCV004132814] Chr12:43730435 [GRCh38]
Chr12:44124238 [GRCh37]
Chr12:12q12		 uncertain significance
NM_031292.5(PUS7L):c.518C>A (p.Ala173Asp) single nucleotide variant not specified [RCV004194681] Chr12:43754728 [GRCh38]
Chr12:44148531 [GRCh37]
Chr12:12q12		 uncertain significance
NM_031292.5(PUS7L):c.786T>G (p.Phe262Leu) single nucleotide variant not specified [RCV004123967] Chr12:43754460 [GRCh38]
Chr12:44148263 [GRCh37]
Chr12:12q12		 uncertain significance
NM_031292.5(PUS7L):c.1517A>C (p.His506Pro) single nucleotide variant not specified [RCV004109953] Chr12:43736589 [GRCh38]
Chr12:44130392 [GRCh37]
Chr12:12q12		 uncertain significance
NM_031292.5(PUS7L):c.923G>T (p.Arg308Leu) single nucleotide variant not specified [RCV004188115] Chr12:43748597 [GRCh38]
Chr12:44142400 [GRCh37]
Chr12:12q12		 uncertain significance
NM_031292.5(PUS7L):c.1891C>T (p.Pro631Ser) single nucleotide variant not specified [RCV004225741] Chr12:43730591 [GRCh38]
Chr12:44124394 [GRCh37]
Chr12:12q12		 uncertain significance
NM_031292.5(PUS7L):c.1578G>A (p.Met526Ile) single nucleotide variant not specified [RCV004211665] Chr12:43736528 [GRCh38]
Chr12:44130331 [GRCh37]
Chr12:12q12		 uncertain significance
NM_031292.5(PUS7L):c.232C>G (p.Leu78Val) single nucleotide variant not specified [RCV004123966] Chr12:43755014 [GRCh38]
Chr12:44148817 [GRCh37]
Chr12:12q12		 uncertain significance
NM_031292.5(PUS7L):c.1636A>G (p.Arg546Gly) single nucleotide variant not specified [RCV004599489] Chr12:43736470 [GRCh38]
Chr12:44130273 [GRCh37]
Chr12:12q12		 uncertain significance
NM_031292.5(PUS7L):c.673A>G (p.Lys225Glu) single nucleotide variant not specified [RCV004174426] Chr12:43754573 [GRCh38]
Chr12:44148376 [GRCh37]
Chr12:12q12		 uncertain significance
NM_031292.5(PUS7L):c.2044G>A (p.Asp682Asn) single nucleotide variant not specified [RCV004094165] Chr12:43730438 [GRCh38]
Chr12:44124241 [GRCh37]
Chr12:12q12		 uncertain significance
NM_031292.5(PUS7L):c.985C>T (p.Pro329Ser) single nucleotide variant not specified [RCV004080949] Chr12:43748535 [GRCh38]
Chr12:44142338 [GRCh37]
Chr12:12q12		 uncertain significance
NM_031292.5(PUS7L):c.1829T>A (p.Val610Glu) single nucleotide variant not specified [RCV004218350] Chr12:43730653 [GRCh38]
Chr12:44124456 [GRCh37]
Chr12:12q12		 uncertain significance
NM_031292.5(PUS7L):c.1576A>G (p.Met526Val) single nucleotide variant not specified [RCV004174565] Chr12:43736530 [GRCh38]
Chr12:44130333 [GRCh37]
Chr12:12q12		 uncertain significance
NM_031292.5(PUS7L):c.356A>G (p.Glu119Gly) single nucleotide variant not specified [RCV004148317] Chr12:43754890 [GRCh38]
Chr12:44148693 [GRCh37]
Chr12:12q12		 uncertain significance
NM_031292.5(PUS7L):c.490G>A (p.Gly164Ser) single nucleotide variant not specified [RCV004166217] Chr12:43754756 [GRCh38]
Chr12:44148559 [GRCh37]
Chr12:12q12		 uncertain significance
NM_031292.5(PUS7L):c.332T>C (p.Ile111Thr) single nucleotide variant not specified [RCV004092329] Chr12:43754914 [GRCh38]
Chr12:44148717 [GRCh37]
Chr12:12q12		 uncertain significance
NM_031292.5(PUS7L):c.1649A>G (p.Tyr550Cys) single nucleotide variant not specified [RCV004086589] Chr12:43736457 [GRCh38]
Chr12:44130260 [GRCh37]
Chr12:12q12		 uncertain significance
NM_031292.5(PUS7L):c.1922A>G (p.Tyr641Cys) single nucleotide variant not specified [RCV004114671] Chr12:43730560 [GRCh38]
Chr12:44124363 [GRCh37]
Chr12:12q12		 uncertain significance
NM_031292.5(PUS7L):c.1269A>T (p.Lys423Asn) single nucleotide variant not specified [RCV004106630] Chr12:43742550 [GRCh38]
Chr12:44136353 [GRCh37]
Chr12:12q12		 uncertain significance
NM_031292.5(PUS7L):c.334G>A (p.Val112Ile) single nucleotide variant not specified [RCV004236377] Chr12:43754912 [GRCh38]
Chr12:44148715 [GRCh37]
Chr12:12q12		 uncertain significance
NM_031292.5(PUS7L):c.766C>T (p.Leu256Phe) single nucleotide variant not specified [RCV004144651] Chr12:43754480 [GRCh38]
Chr12:44148283 [GRCh37]
Chr12:12q12		 uncertain significance
NM_031292.5(PUS7L):c.141T>G (p.Asn47Lys) single nucleotide variant not specified [RCV004221224] Chr12:43755105 [GRCh38]
Chr12:44148908 [GRCh37]
Chr12:12q12		 uncertain significance
NM_031292.5(PUS7L):c.859C>T (p.Arg287Cys) single nucleotide variant not specified [RCV004089409] Chr12:43754387 [GRCh38]
Chr12:44148190 [GRCh37]
Chr12:12q12		 uncertain significance
NM_031292.5(PUS7L):c.707A>T (p.Asp236Val) single nucleotide variant not specified [RCV004309301] Chr12:43754539 [GRCh38]
Chr12:44148342 [GRCh37]
Chr12:12q12		 uncertain significance
NM_031292.5(PUS7L):c.1540G>A (p.Gly514Ser) single nucleotide variant not specified [RCV004250053] Chr12:43736566 [GRCh38]
Chr12:44130369 [GRCh37]
Chr12:12q12		 uncertain significance
NM_031292.5(PUS7L):c.160A>T (p.Ile54Phe) single nucleotide variant not specified [RCV004275235] Chr12:43755086 [GRCh38]
Chr12:44148889 [GRCh37]
Chr12:12q12		 uncertain significance
NM_031292.5(PUS7L):c.1283A>T (p.Tyr428Phe) single nucleotide variant not specified [RCV004283270] Chr12:43742536 [GRCh38]
Chr12:44136339 [GRCh37]
Chr12:12q12		 uncertain significance
NM_031292.5(PUS7L):c.250A>G (p.Arg84Gly) single nucleotide variant not specified [RCV004250606] Chr12:43754996 [GRCh38]
Chr12:44148799 [GRCh37]
Chr12:12q12		 uncertain significance
NM_031292.5(PUS7L):c.1519C>T (p.Arg507Cys) single nucleotide variant not specified [RCV004357790] Chr12:43736587 [GRCh38]
Chr12:44130390 [GRCh37]
Chr12:12q12		 uncertain significance
NM_031292.5(PUS7L):c.965C>G (p.Ala322Gly) single nucleotide variant not specified [RCV004358453] Chr12:43748555 [GRCh38]
Chr12:44142358 [GRCh37]
Chr12:12q12		 uncertain significance
NM_031292.5(PUS7L):c.542A>G (p.Gln181Arg) single nucleotide variant not specified [RCV004438224] Chr12:43754704 [GRCh38]
Chr12:44148507 [GRCh37]
Chr12:12q12		 uncertain significance
NM_031292.5(PUS7L):c.833T>G (p.Val278Gly) single nucleotide variant not specified [RCV004438225] Chr12:43754413 [GRCh38]
Chr12:44148216 [GRCh37]
Chr12:12q12		 uncertain significance
GRCh37/hg19 12q12-13.11(chr12:38258635-48235837)x3 copy number gain not specified [RCV003987001] Chr12:38258635..48235837 [GRCh37]
Chr12:12q12-13.11		 pathogenic
NM_031292.5(PUS7L):c.517G>A (p.Ala173Thr) single nucleotide variant not specified [RCV004438223] Chr12:43754729 [GRCh38]
Chr12:44148532 [GRCh37]
Chr12:12q12		 uncertain significance
NM_031292.5(PUS7L):c.325G>A (p.Asp109Asn) single nucleotide variant not specified [RCV004438221] Chr12:43754921 [GRCh38]
Chr12:44148724 [GRCh37]
Chr12:12q12		 uncertain significance
NM_031292.5(PUS7L):c.106G>A (p.Val36Ile) single nucleotide variant not specified [RCV004438217] Chr12:43755140 [GRCh38]
Chr12:44148943 [GRCh37]
Chr12:12q12		 uncertain significance
NM_031292.5(PUS7L):c.1097A>T (p.Glu366Val) single nucleotide variant not specified [RCV004438218] Chr12:43746212 [GRCh38]
Chr12:44140015 [GRCh37]
Chr12:12q12		 uncertain significance
NM_031292.5(PUS7L):c.1939C>T (p.His647Tyr) single nucleotide variant not specified [RCV004438220] Chr12:43730543 [GRCh38]
Chr12:44124346 [GRCh37]
Chr12:12q12		 uncertain significance
NM_031292.5(PUS7L):c.404A>C (p.Glu135Ala) single nucleotide variant not specified [RCV004438222] Chr12:43754842 [GRCh38]
Chr12:44148645 [GRCh37]
Chr12:12q12		 uncertain significance
NM_031292.5(PUS7L):c.1584A>G (p.Ile528Met) single nucleotide variant not specified [RCV004662757] Chr12:43736522 [GRCh38]
Chr12:44130325 [GRCh37]
Chr12:12q12		 uncertain significance
NM_031292.5(PUS7L):c.386T>C (p.Leu129Ser) single nucleotide variant not specified [RCV004669294] Chr12:43754860 [GRCh38]
Chr12:44148663 [GRCh37]
Chr12:12q12		 uncertain significance
NM_031292.5(PUS7L):c.128G>T (p.Gly43Val) single nucleotide variant not specified [RCV004662758] Chr12:43755118 [GRCh38]
Chr12:44148921 [GRCh37]
Chr12:12q12		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2274
Count of miRNA genes:579
Interacting mature miRNAs:653
Transcripts:ENST00000344862, ENST00000416848, ENST00000431332, ENST00000547156, ENST00000549868, ENST00000550784, ENST00000551923, ENST00000553166
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
407365127GWAS1014103_Hblood protein measurement QTL GWAS1014103 (human)5e-23blood protein measurementblood protein measurement (CMO:0000028)124372218643722187Human
407373481GWAS1022457_Hblood protein measurement QTL GWAS1022457 (human)3e-18blood protein measurementblood protein measurement (CMO:0000028)124372218643722187Human
407384618GWAS1033594_Hblood protein measurement QTL GWAS1033594 (human)1e-44blood protein measurementblood protein measurement (CMO:0000028)124372218643722187Human
407365125GWAS1014101_Hblood protein measurement QTL GWAS1014101 (human)9e-21blood protein measurementblood protein measurement (CMO:0000028)124372218643722187Human
407280452GWAS929428_Hvaginal microbiome measurement QTL GWAS929428 (human)0.00001vaginal microbiome measurement124374061443740615Human
407280453GWAS929429_Hvaginal microbiome measurement QTL GWAS929429 (human)0.00001vaginal microbiome measurement124374141643741417Human
407374668GWAS1023644_Hblood protein measurement QTL GWAS1023644 (human)1e-47blood protein measurementblood protein measurement (CMO:0000028)124372218643722187Human
407280450GWAS929426_Hvaginal microbiome measurement QTL GWAS929426 (human)0.00001vaginal microbiome measurement124373789443737895Human
407372205GWAS1021181_Hblood protein measurement QTL GWAS1021181 (human)2e-50blood protein measurementblood protein measurement (CMO:0000028)124372218643722187Human
407280451GWAS929427_Hvaginal microbiome measurement QTL GWAS929427 (human)0.00001vaginal microbiome measurement124374016943740170Human
407386670GWAS1035646_Hblood protein measurement QTL GWAS1035646 (human)8e-49blood protein measurementblood protein measurement (CMO:0000028)124372218643722187Human
407366926GWAS1015902_Hblood protein measurement QTL GWAS1015902 (human)9e-28blood protein measurementblood protein measurement (CMO:0000028)124372218643722187Human
407375171GWAS1024147_Hblood protein measurement QTL GWAS1024147 (human)2e-29blood protein measurementblood protein measurement (CMO:0000028)124372218643722187Human
407365129GWAS1014105_Hblood protein measurement QTL GWAS1014105 (human)1e-73blood protein measurementblood protein measurement (CMO:0000028)124372218643722187Human
407366857GWAS1015833_Hblood protein measurement QTL GWAS1015833 (human)8e-41blood protein measurementblood protein measurement (CMO:0000028)124372218643722187Human
406954895GWAS603871_Hprotein measurement QTL GWAS603871 (human)4e-17protein measurement124372628943726290Human
406911918GWAS560894_Hvaginal microbiome measurement QTL GWAS560894 (human)0.00001vaginal microbiome measurement124373583343735834Human
407365136GWAS1014112_Hblood protein measurement QTL GWAS1014112 (human)1e-25blood protein measurementblood protein measurement (CMO:0000028)124372218643722187Human
407383313GWAS1032289_Hblood protein measurement QTL GWAS1032289 (human)1e-24blood protein measurementblood protein measurement (CMO:0000028)124372218643722187Human
407368766GWAS1017742_Hblood protein measurement QTL GWAS1017742 (human)1e-87blood protein measurementblood protein measurement (CMO:0000028)124372218643722187Human


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
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2253 4973 1726 2350 6 624 1951 465 2269 7306 6472 53 3734 1 852 1744 1616 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001098614 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001098615 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001271826 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_031292 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006719623 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011538790 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011538791 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017019997 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017019998 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047429625 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047429626 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047429627 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373373 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373374 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373375 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373376 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373377 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373378 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001748877 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002957382 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008488687 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_944748 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC016143 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC093012 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK092030 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK097331 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK225903 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL136759 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC018000 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC020781 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC033621 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC068502 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX647494 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX648207 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471111 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068266 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR627435 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA950015 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB073931 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB518759 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000344862   ⟹   ENSP00000343081
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1243,718,992 - 43,758,790 (-)Ensembl
Ensembl Acc Id: ENST00000416848   ⟹   ENSP00000415899
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1243,728,607 - 43,758,758 (-)Ensembl
Ensembl Acc Id: ENST00000431332   ⟹   ENSP00000398497
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1243,729,763 - 43,758,793 (-)Ensembl
Ensembl Acc Id: ENST00000547156   ⟹   ENSP00000450341
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1243,738,353 - 43,758,759 (-)Ensembl
Ensembl Acc Id: ENST00000549868   ⟹   ENSP00000449502
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1243,754,867 - 43,758,759 (-)Ensembl
Ensembl Acc Id: ENST00000550784   ⟹   ENSP00000449222
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1243,738,333 - 43,758,759 (-)Ensembl
Ensembl Acc Id: ENST00000551923   ⟹   ENSP00000447706
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1243,729,258 - 43,758,773 (-)Ensembl
Ensembl Acc Id: ENST00000553166   ⟹   ENSP00000446865
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1243,746,214 - 43,758,767 (-)Ensembl
RefSeq Acc Id: NM_001098614   ⟹   NP_001092084
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381243,718,992 - 43,758,790 (-)NCBI
GRCh371244,121,828 - 44,152,620 (-)NCBI
Build 361242,408,677 - 42,438,829 (-)NCBI Archive
Celera1242,924,817 - 42,954,984 (-)RGD
HuRef1241,149,655 - 41,179,837 (-)NCBI
CHM1_11244,087,399 - 44,117,562 (-)NCBI
T2T-CHM13v2.01243,677,351 - 43,717,488 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001098615   ⟹   NP_001092085
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381243,718,992 - 43,758,790 (-)NCBI
GRCh371244,121,828 - 44,152,620 (-)NCBI
Build 361242,408,677 - 42,438,828 (-)NCBI Archive
Celera1242,924,817 - 42,954,984 (-)RGD
HuRef1241,149,655 - 41,179,837 (-)NCBI
CHM1_11244,087,399 - 44,117,547 (-)NCBI
T2T-CHM13v2.01243,677,351 - 43,717,488 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001271826   ⟹   NP_001258755
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381243,718,992 - 43,758,790 (-)NCBI
HuRef1241,149,655 - 41,179,837 (-)NCBI
CHM1_11244,087,399 - 44,117,606 (-)NCBI
T2T-CHM13v2.01243,677,351 - 43,717,488 (-)NCBI
Sequence:
RefSeq Acc Id: NM_031292   ⟹   NP_112582
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381243,718,992 - 43,758,790 (-)NCBI
Build 361242,408,677 - 42,438,863 (-)NCBI Archive
Celera1242,924,817 - 42,954,984 (-)RGD
HuRef1241,149,655 - 41,179,837 (-)NCBI
CHM1_11244,087,399 - 44,117,606 (-)NCBI
T2T-CHM13v2.01243,677,351 - 43,717,488 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006719623   ⟹   XP_006719686
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381243,718,992 - 43,758,790 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011538790   ⟹   XP_011537092
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381243,718,992 - 43,758,790 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011538791   ⟹   XP_011537093
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381243,718,992 - 43,758,790 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047429625   ⟹   XP_047285581
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381243,718,992 - 43,758,790 (-)NCBI
RefSeq Acc Id: XM_047429626   ⟹   XP_047285582
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381243,736,381 - 43,758,790 (-)NCBI
RefSeq Acc Id: XM_047429627   ⟹   XP_047285583
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381243,739,688 - 43,758,790 (-)NCBI
RefSeq Acc Id: XM_054373373   ⟹   XP_054229348
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01243,677,351 - 43,717,479 (-)NCBI
RefSeq Acc Id: XM_054373374   ⟹   XP_054229349
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01243,677,351 - 43,717,488 (-)NCBI
RefSeq Acc Id: XM_054373375   ⟹   XP_054229350
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01243,677,351 - 43,717,479 (-)NCBI
RefSeq Acc Id: XM_054373376   ⟹   XP_054229351
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01243,677,351 - 43,717,488 (-)NCBI
RefSeq Acc Id: XM_054373377   ⟹   XP_054229352
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01243,694,749 - 43,717,488 (-)NCBI
RefSeq Acc Id: XM_054373378   ⟹   XP_054229353
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01243,698,056 - 43,717,488 (-)NCBI
RefSeq Acc Id: XR_008488687
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01243,696,678 - 43,717,488 (-)NCBI
RefSeq Acc Id: XR_944748
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381243,738,310 - 43,758,790 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001092084 (Get FASTA)   NCBI Sequence Viewer  
  NP_001092085 (Get FASTA)   NCBI Sequence Viewer  
  NP_001258755 (Get FASTA)   NCBI Sequence Viewer  
  NP_112582 (Get FASTA)   NCBI Sequence Viewer  
  XP_006719686 (Get FASTA)   NCBI Sequence Viewer  
  XP_011537092 (Get FASTA)   NCBI Sequence Viewer  
  XP_011537093 (Get FASTA)   NCBI Sequence Viewer  
  XP_047285581 (Get FASTA)   NCBI Sequence Viewer  
  XP_047285582 (Get FASTA)   NCBI Sequence Viewer  
  XP_047285583 (Get FASTA)   NCBI Sequence Viewer  
  XP_054229348 (Get FASTA)   NCBI Sequence Viewer  
  XP_054229349 (Get FASTA)   NCBI Sequence Viewer  
  XP_054229350 (Get FASTA)   NCBI Sequence Viewer  
  XP_054229351 (Get FASTA)   NCBI Sequence Viewer  
  XP_054229352 (Get FASTA)   NCBI Sequence Viewer  
  XP_054229353 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH20781 (Get FASTA)   NCBI Sequence Viewer  
  AAH33621 (Get FASTA)   NCBI Sequence Viewer  
  AAH68502 (Get FASTA)   NCBI Sequence Viewer  
  BAG53453 (Get FASTA)   NCBI Sequence Viewer  
  CAB66693 (Get FASTA)   NCBI Sequence Viewer  
  CAH10521 (Get FASTA)   NCBI Sequence Viewer  
  EAW57866 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000343081
  ENSP00000343081.5
  ENSP00000398497
  ENSP00000398497.3
  ENSP00000415899
  ENSP00000415899.2
  ENSP00000446865.1
  ENSP00000447706
  ENSP00000447706.1
  ENSP00000449222.1
  ENSP00000449502.1
  ENSP00000450341.1
GenBank Protein Q9H0K6 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_112582   ⟸   NM_031292
- Peptide Label: isoform a
- UniProtKB: Q6AHZ3 (UniProtKB/Swiss-Prot),   Q05CU0 (UniProtKB/Swiss-Prot),   B3KUJ1 (UniProtKB/Swiss-Prot),   Q6NUP2 (UniProtKB/Swiss-Prot),   Q9H0K6 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001092084   ⟸   NM_001098614
- Peptide Label: isoform a
- UniProtKB: Q6AHZ3 (UniProtKB/Swiss-Prot),   Q05CU0 (UniProtKB/Swiss-Prot),   B3KUJ1 (UniProtKB/Swiss-Prot),   Q6NUP2 (UniProtKB/Swiss-Prot),   Q9H0K6 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001092085   ⟸   NM_001098615
- Peptide Label: isoform a
- UniProtKB: Q6AHZ3 (UniProtKB/Swiss-Prot),   Q05CU0 (UniProtKB/Swiss-Prot),   B3KUJ1 (UniProtKB/Swiss-Prot),   Q6NUP2 (UniProtKB/Swiss-Prot),   Q9H0K6 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001258755   ⟸   NM_001271826
- Peptide Label: isoform b
- UniProtKB: Q9H0K6 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_006719686   ⟸   XM_006719623
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_011537093   ⟸   XM_011538791
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_011537092   ⟸   XM_011538790
- Peptide Label: isoform X1
- Sequence:
Ensembl Acc Id: ENSP00000450341   ⟸   ENST00000547156
Ensembl Acc Id: ENSP00000415899   ⟸   ENST00000416848
Ensembl Acc Id: ENSP00000449502   ⟸   ENST00000549868
Ensembl Acc Id: ENSP00000398497   ⟸   ENST00000431332
Ensembl Acc Id: ENSP00000449222   ⟸   ENST00000550784
Ensembl Acc Id: ENSP00000447706   ⟸   ENST00000551923
Ensembl Acc Id: ENSP00000446865   ⟸   ENST00000553166
Ensembl Acc Id: ENSP00000343081   ⟸   ENST00000344862
RefSeq Acc Id: XP_047285581   ⟸   XM_047429625
- Peptide Label: isoform X3
RefSeq Acc Id: XP_047285582   ⟸   XM_047429626
- Peptide Label: isoform X5
RefSeq Acc Id: XP_047285583   ⟸   XM_047429627
- Peptide Label: isoform X6
RefSeq Acc Id: XP_054229349   ⟸   XM_054373374
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054229351   ⟸   XM_054373376
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054229350   ⟸   XM_054373375
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054229348   ⟸   XM_054373373
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054229352   ⟸   XM_054373377
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054229353   ⟸   XM_054373378
- Peptide Label: isoform X6
Protein Domains
TRUD

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9H0K6-F1-model_v2 AlphaFold Q9H0K6 1-701 view protein structure

Promoters
RGD ID:6790142
Promoter ID:HG_KWN:15417
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_001098614,   NM_001098615,   NM_001114182,   NM_001145256,   NM_001145257,   NM_001145258,   NM_016123,   NM_031292,   UC001RNV.2,   UC001RNW.2,   UC009ZKB.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361242,438,861 - 42,439,361 (+)MPROMDB
RGD ID:7223661
Promoter ID:EPDNEW_H17576
Type:initiation region
Name:PUS7L_1
Description:pseudouridylate synthase 7 like
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
GRCh381243,758,759 - 43,758,819EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:25276 AgrOrtholog
COSMIC PUS7L COSMIC
Ensembl Genes ENSG00000129317 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000344862 ENTREZGENE
  ENST00000344862.10 UniProtKB/Swiss-Prot
  ENST00000416848 ENTREZGENE
  ENST00000416848.6 UniProtKB/Swiss-Prot
  ENST00000431332 ENTREZGENE
  ENST00000431332.7 UniProtKB/Swiss-Prot
  ENST00000547156.1 UniProtKB/TrEMBL
  ENST00000549868.1 UniProtKB/TrEMBL
  ENST00000550784.5 UniProtKB/TrEMBL
  ENST00000551923 ENTREZGENE
  ENST00000551923.5 UniProtKB/Swiss-Prot
  ENST00000553166.1 UniProtKB/TrEMBL
Gene3D-CATH 1.10.1510.30 UniProtKB/TrEMBL
  3.30.2350.20 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.30.70.3160 UniProtKB/TrEMBL
GTEx ENSG00000129317 GTEx
HGNC ID HGNC:25276 ENTREZGENE
Human Proteome Map PUS7L Human Proteome Map
InterPro PsdUridine_synth_cat_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PsdUridine_synth_TruD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PsdUridine_synth_TruD_insert UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TruD_catalytic UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:83448 UniProtKB/Swiss-Prot
NCBI Gene 83448 ENTREZGENE
PANTHER PSEUDOURIDYLATE SYNTHASE PUS7L UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR13326 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam TruD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA143485588 PharmGKB
PIRSF Pseudouridin_synth_euk_prd UniProtKB/Swiss-Prot
PROSITE TRUD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF55120 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B3KUJ1 ENTREZGENE
  F8VP66_HUMAN UniProtKB/TrEMBL
  F8VW99_HUMAN UniProtKB/TrEMBL
  F8VWC0_HUMAN UniProtKB/TrEMBL
  F8VZA0_HUMAN UniProtKB/TrEMBL
  L8EB78_HUMAN UniProtKB/TrEMBL
  PUS7L_HUMAN UniProtKB/Swiss-Prot
  Q05CU0 ENTREZGENE
  Q6AHZ3 ENTREZGENE
  Q6NUP2 ENTREZGENE
  Q9H0K6 ENTREZGENE
UniProt Secondary B3KUJ1 UniProtKB/Swiss-Prot
  Q05CU0 UniProtKB/Swiss-Prot
  Q6AHZ3 UniProtKB/Swiss-Prot
  Q6NUP2 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2018-09-18 PUS7L  pseudouridine synthase 7 like    pseudouridylate synthase 7 like  Symbol and/or name change 5135510 APPROVED
2016-03-14 PUS7L  pseudouridylate synthase 7 like    pseudouridylate synthase 7-like  Symbol and/or name change 5135510 APPROVED
2015-07-14 PUS7L  pseudouridylate synthase 7-like    pseudouridylate synthase 7 homolog (S. cerevisiae)-like  Symbol and/or name change 5135510 APPROVED