PRPF38A (pre-mRNA processing factor 38A) - Rat Genome Database

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Gene: PRPF38A (pre-mRNA processing factor 38A) Homo sapiens
Analyze
Symbol: PRPF38A
Name: pre-mRNA processing factor 38A
RGD ID: 1602851
HGNC Page HGNC:25930
Description: Enables RNA binding activity. Involved in mRNA splicing, via spliceosome. Located in nucleoplasm. Part of U2-type precatalytic spliceosome.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: FLJ14936; MGC3320; pre-mRNA-splicing factor 38A; Prp38; PRP38 pre-mRNA processing factor 38 domain containing A; PRP38A; RP5-965L7.1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Black Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: PRPF38AP1   PRPF38AP2  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38152,404,602 - 52,420,836 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl152,404,060 - 52,420,836 (+)Ensemblhg38GRCh38
GRCh37152,870,274 - 52,886,508 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36152,642,807 - 52,656,580 (+)NCBIBuild 36Build 36hg18NCBI36
Celera151,156,917 - 51,170,690 (+)NCBICelera
Cytogenetic Map1p32.3NCBI
HuRef150,986,164 - 50,999,936 (+)NCBIHuRef
CHM1_1152,987,600 - 53,001,373 (+)NCBICHM1_1
T2T-CHM13v2.0152,286,071 - 52,302,304 (+)NCBIT2T-CHM13v2.0
JBrowse:




Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:12477932   PMID:14702039   PMID:15302935   PMID:16169070   PMID:16344560   PMID:18854154   PMID:21555454   PMID:21832049   PMID:21873635   PMID:21900206   PMID:22113938   PMID:22365833  
PMID:22681889   PMID:23455924   PMID:23602568   PMID:24140279   PMID:24457600   PMID:24981860   PMID:25416956   PMID:25693804   PMID:26167880   PMID:26186194   PMID:26344197   PMID:26496610  
PMID:26673105   PMID:26673895   PMID:27173435   PMID:27880917   PMID:28077445   PMID:28302793   PMID:28335716   PMID:28514442   PMID:28561026   PMID:28781166   PMID:28878028   PMID:29128334  
PMID:29298432   PMID:29395067   PMID:29467282   PMID:29478914   PMID:29509190   PMID:29568061   PMID:29802200   PMID:29955894   PMID:30404004   PMID:30415952   PMID:30463901   PMID:30581152  
PMID:30804502   PMID:30884312   PMID:31076518   PMID:31462741   PMID:31515488   PMID:31527615   PMID:31586073   PMID:32203420   PMID:32296183   PMID:32609799   PMID:32707033   PMID:32780723  
PMID:33243851   PMID:33301849   PMID:33961781   PMID:34133714   PMID:34185411   PMID:34373451   PMID:35253629   PMID:35271311   PMID:35337019   PMID:35545034   PMID:35944360   PMID:36215168  
PMID:36244648   PMID:36273042   PMID:37071682   PMID:37468549   PMID:37827155   PMID:38113892   PMID:38697112   PMID:38803224   PMID:40593736  


Genomics

Comparative Map Data
PRPF38A
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38152,404,602 - 52,420,836 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl152,404,060 - 52,420,836 (+)Ensemblhg38GRCh38
GRCh37152,870,274 - 52,886,508 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36152,642,807 - 52,656,580 (+)NCBIBuild 36Build 36hg18NCBI36
Celera151,156,917 - 51,170,690 (+)NCBICelera
Cytogenetic Map1p32.3NCBI
HuRef150,986,164 - 50,999,936 (+)NCBIHuRef
CHM1_1152,987,600 - 53,001,373 (+)NCBICHM1_1
T2T-CHM13v2.0152,286,071 - 52,302,304 (+)NCBIT2T-CHM13v2.0
Prpf38a
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm394108,422,064 - 108,436,533 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl4108,420,369 - 108,436,533 (-)EnsemblGRCm39 EnsemblGRCm39
GRCm384108,564,867 - 108,579,336 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl4108,563,172 - 108,579,336 (-)Ensemblmm10GRCm38
MGSCv374108,237,472 - 108,251,941 (-)NCBIMGSCv37MGSCv37mm9NCBIm37
MGSCv364108,062,802 - 108,077,259 (-)NCBIMGSCv36mm8
Celera4106,908,082 - 106,922,687 (-)NCBICelera
Cytogenetic Map4C7NCBI
cM Map450.64NCBI
Prpf38a
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr85128,541,166 - 128,552,865 (-)NCBIGRCr8GRCr8GRCr8
GRCr8 Ensembl5128,541,166 - 128,552,865 (-)EnsemblGRCr8
mRatBN7.25123,312,461 - 123,324,160 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl5123,311,482 - 123,323,972 (-)EnsemblmRatBN7.2
UTH_Rnor_SHR_Utx5125,935,211 - 125,946,912 (-)NCBIUTH_Rnor_SHR_UtxUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.05127,658,297 - 127,669,998 (-)NCBIUTH_Rnor_SHRSP_BbbUtx_1.0UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.05127,709,588 - 127,721,290 (-)NCBIUTH_Rnor_WKY_Bbb_1.0UTH_Rnor_WKY_Bbb_1.0
Rnor_6.05128,174,835 - 128,186,532 (-)NCBIRnor_6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl5128,174,835 - 128,186,532 (-)Ensemblrn6Rnor6.0
Rnor_5.05132,015,346 - 132,027,043 (-)NCBIRnor_5.0Rnor_5.0rn5
RGSC_v3.45129,866,098 - 129,877,797 (-)NCBIRGSC_v3.4RGSC_v3.4rn4
Celera5122,047,108 - 122,058,809 (-)NCBICelera
RGSC_v3.15129,871,737 - 129,883,002 (-)NCBI
Cytogenetic Map5q34NCBI
Prpf38a
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554646,742,200 - 6,761,059 (-)Ensembl
ChiLan1.0NW_0049554646,742,200 - 6,761,059 (-)NCBIChiLan1.0ChiLan1.0
PRPF38A
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21174,431,352 - 174,444,998 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11173,574,584 - 173,587,072 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0151,666,415 - 51,680,012 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1153,273,712 - 53,287,459 (+)NCBIPanPan1.1PanPan1.1panPan2
PanPan1.1 Ensembl153,273,712 - 53,287,459 (+)EnsemblpanPan2panpan1.1
PRPF38A
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1158,950,621 - 8,965,205 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl158,950,805 - 8,965,085 (-)EnsemblcanFam3CanFam3.1
Dog10K_Boxer_Tasha159,102,871 - 9,117,451 (-)NCBIDog10K_Boxer_TashaDog10K_Boxer_Tasha
ROS_Cfam_1.0159,073,781 - 9,088,612 (-)NCBIROS_Cfam_1.0ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl159,071,161 - 9,088,490 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1158,887,061 - 8,901,642 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0158,975,959 - 8,990,542 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0158,993,892 - 9,008,478 (-)NCBIUU_Cfam_GSD_1.0UU_Cfam_GSD_1.0
Prpf38a
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440505866,835,708 - 66,875,354 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365228,562,738 - 8,580,956 (-)EnsemblSpeTri2.0 Ensembl
SpeTri2.0NW_0049365228,540,839 - 8,580,604 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PRPF38A
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl6159,797,626 - 159,819,052 (-)EnsemblsusScr11Sscrofa11.1
Sscrofa11.16159,798,692 - 159,819,252 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.26147,310,082 - 147,314,508 (+)NCBISscrofa10.2Sscrofa10.2susScr3
PRPF38A
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12080,527,475 - 80,540,230 (-)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366603336,730,248 - 36,745,058 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Prpf38a
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624859809,356 - 833,281 (-)EnsemblHetGla_female_1.0 EnsemblhetGla2HetGla_female_1.0 Ensembl
HetGla 1.0NW_004624859809,373 - 833,283 (-)NCBIHetGla 1.0HetGla 1.0hetGla2
Prpf38a
(Rattus rattus - black rat)
Black Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Rrattus_CSIRO_v1146,280,647 - 46,292,272 (+)NCBIRrattus_CSIRO_v1

Variants

.
Variants in PRPF38A
22 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 1p32.3-31.3(chr1:50222546-61618373)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051819]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051819]|See cases [RCV000051819] Chr1:50222546..61618373 [GRCh38]
Chr1:50688218..62084045 [GRCh37]
Chr1:50460805..61856633 [NCBI36]
Chr1:1p32.3-31.3		 pathogenic
GRCh37/hg19 1p36.12-12(chr1:20608823-120546301)x3 copy number loss not provided [RCV000762767] Chr1:20608823..120546301 [GRCh37]
Chr1:1p36.12-12		 likely benign
GRCh37/hg19 1p32.3(chr1:51729573-55164001)x1 copy number loss See cases [RCV000447334] Chr1:51729573..55164001 [GRCh37]
Chr1:1p32.3		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
NM_032864.4(PRPF38A):c.640C>T (p.Arg214Trp) single nucleotide variant not specified [RCV004301177] Chr1:52413909 [GRCh38]
Chr1:52879581 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_032864.4(PRPF38A):c.799C>T (p.Arg267Cys) single nucleotide variant not specified [RCV004324699] Chr1:52414811 [GRCh38]
Chr1:52880483 [GRCh37]
Chr1:1p32.3		 uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3 copy number gain Global developmental delay [RCV000787285] Chr1:103343285..103455144 [GRCh37]
Chr1:1p36.22-21.1		 uncertain significance
GRCh37/hg19 1p32.3-32.2(chr1:51941877-56688514) copy number loss Abnormality of the kidney [RCV001352641] Chr1:51941877..56688514 [GRCh37]
Chr1:1p32.3-32.2		 pathogenic|likely pathogenic
GRCh38/hg38 1p33-32.3(chr1:50441439-50959811)x2 copy number loss Orofacial cleft 13 [RCV002488680] Chr1:50441439..50959811 [GRCh38]
Chr1:1p33-32.3		 association
NM_032864.4(PRPF38A):c.872G>A (p.Arg291Lys) single nucleotide variant not specified [RCV004071281] Chr1:52415362 [GRCh38]
Chr1:52881034 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_032864.4(PRPF38A):c.641G>A (p.Arg214Gln) single nucleotide variant not specified [RCV004168965] Chr1:52413910 [GRCh38]
Chr1:52879582 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_032864.4(PRPF38A):c.478A>C (p.Ile160Leu) single nucleotide variant not specified [RCV004278094] Chr1:52411180 [GRCh38]
Chr1:52876852 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_032864.4(PRPF38A):c.797A>G (p.His266Arg) single nucleotide variant not specified [RCV004351202] Chr1:52414809 [GRCh38]
Chr1:52880481 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_032864.4(PRPF38A):c.476A>C (p.Asp159Ala) single nucleotide variant not specified [RCV004358946] Chr1:52411178 [GRCh38]
Chr1:52876850 [GRCh37]
Chr1:1p32.3		 uncertain significance
Single allele inversion Bilateral polymicrogyria [RCV003459046] Chr1:33246132..61045156 [GRCh38]
Chr1:1p35.1-31.3		 likely pathogenic
GRCh37/hg19 1p33-32.2(chr1:47493178-57042671)x3 copy number gain not specified [RCV003986484] Chr1:47493178..57042671 [GRCh37]
Chr1:1p33-32.2		 likely pathogenic
NM_032864.4(PRPF38A):c.670C>G (p.Arg224Gly) single nucleotide variant not specified [RCV004507505] Chr1:52413939 [GRCh38]
Chr1:52879611 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_032864.4(PRPF38A):c.673C>T (p.Arg225Cys) single nucleotide variant not specified [RCV004507506] Chr1:52413942 [GRCh38]
Chr1:52879614 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_032864.4(PRPF38A):c.764G>A (p.Arg255Gln) single nucleotide variant not specified [RCV004507508] Chr1:52414776 [GRCh38]
Chr1:52880448 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_032864.4(PRPF38A):c.686T>C (p.Leu229Pro) single nucleotide variant not specified [RCV004507507] Chr1:52413955 [GRCh38]
Chr1:52879627 [GRCh37]
Chr1:1p32.3		 uncertain significance
GRCh37/hg19 1p34.1-22.2(chr1:44475302-89585894)x3 copy number gain not provided [RCV004819297] Chr1:44475302..89585894 [GRCh37]
Chr1:1p34.1-22.2		 pathogenic
GRCh37/hg19 1p32.3(chr1:52681421-54333374)x3 copy number gain not provided [RCV004819422] Chr1:52681421..54333374 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_032864.4(PRPF38A):c.885G>C (p.Lys295Asn) single nucleotide variant not specified [RCV004848740] Chr1:52415375 [GRCh38]
Chr1:52881047 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_032864.4(PRPF38A):c.775C>T (p.Arg259Trp) single nucleotide variant not specified [RCV004848741] Chr1:52414787 [GRCh38]
Chr1:52880459 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_032864.4(PRPF38A):c.833G>T (p.Arg278Leu) single nucleotide variant not specified [RCV004848743] Chr1:52414845 [GRCh38]
Chr1:52880517 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_032864.4(PRPF38A):c.335C>T (p.Thr112Ile) single nucleotide variant not specified [RCV004848745] Chr1:52408613 [GRCh38]
Chr1:52874285 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_032864.4(PRPF38A):c.307G>C (p.Gly103Arg) single nucleotide variant not specified [RCV004848746] Chr1:52408585 [GRCh38]
Chr1:52874257 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_032864.4(PRPF38A):c.774T>G (p.His258Gln) single nucleotide variant not specified [RCV004848742] Chr1:52414786 [GRCh38]
Chr1:52880458 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_032864.4(PRPF38A):c.671G>A (p.Arg224His) single nucleotide variant not specified [RCV005258763] Chr1:52413940 [GRCh38]
Chr1:52879612 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_032864.4(PRPF38A):c.796C>A (p.His266Asn) single nucleotide variant not specified [RCV005258765] Chr1:52414808 [GRCh38]
Chr1:52880480 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_032864.4(PRPF38A):c.516G>C (p.Glu172Asp) single nucleotide variant not specified [RCV005258764] Chr1:52412531 [GRCh38]
Chr1:52878203 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_032864.4(PRPF38A):c.768A>C (p.Glu256Asp) single nucleotide variant not specified [RCV005258767] Chr1:52414780 [GRCh38]
Chr1:52880452 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_032864.4(PRPF38A):c.181T>C (p.Tyr61His) single nucleotide variant not specified [RCV005258766] Chr1:52405730 [GRCh38]
Chr1:52871402 [GRCh37]
Chr1:1p32.3		 uncertain significance
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:1974
Count of miRNA genes:808
Interacting mature miRNAs:937
Transcripts:ENST00000257181, ENST00000474048, ENST00000487160
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
407223733GWAS872709_Hcolorectal cancer, hormone replacement therapy QTL GWAS872709 (human)0.000001colorectal cancer, hormone replacement therapy15241454252414543Human
2314561GLUCO47_HGlucose level QTL 47 (human)1.1Glucose level14477336070773360Human
617056405GWAS2073904_Hcolorectal cancer, hormone replacement therapy QTL GWAS2073904 (human)0.000001colorectal cancer, hormone replacement therapy15241454252414543Human
628851185GWAS2759414_Hcolorectal cancer, hormone replacement therapy QTL GWAS2759414 (human)0.000001colorectal cancer, hormone replacement therapy15241454252414543Human
597334756GWAS1430830_Hcolorectal cancer, hormone replacement therapy QTL GWAS1430830 (human)0.000001colorectal cancer, hormone replacement therapy15241454252414543Human

Markers in Region
D1S3532  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37152,883,666 - 52,883,758UniSTSGRCh37
Build 36152,656,254 - 52,656,346RGDNCBI36
Celera151,170,364 - 51,170,456RGD
Cytogenetic Map1p32.3UniSTS
HuRef150,999,610 - 50,999,702UniSTS
GeneMap99-GB4 RH Map1152.22UniSTS
GeneMap99-G3 RH Map12577.0UniSTS
PRPF38A  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37152,880,466 - 52,881,052UniSTSGRCh37
Celera151,167,164 - 51,167,750UniSTS
HuRef150,996,411 - 50,996,997UniSTS


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 4974 1726 2351 6 624 1951 465 2270 7306 6472 53 3734 1 852 1744 1617 174 1

Sequence


Ensembl Acc Id: ENST00000257181   ⟹   ENSP00000257181
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl152,404,602 - 52,420,836 (+)Ensembl
Ensembl Acc Id: ENST00000474048
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl152,404,628 - 52,417,022 (+)Ensembl
Ensembl Acc Id: ENST00000487160
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl152,404,620 - 52,409,074 (+)Ensembl
Ensembl Acc Id: ENST00000879463   ⟹   ENSP00000549522
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl152,404,602 - 52,419,372 (+)Ensembl
Ensembl Acc Id: ENST00000879464   ⟹   ENSP00000549523
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl152,404,598 - 52,418,318 (+)Ensembl
Ensembl Acc Id: ENST00000879465   ⟹   ENSP00000549524
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl152,404,564 - 52,418,244 (+)Ensembl
Ensembl Acc Id: ENST00000921590   ⟹   ENSP00000591649
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl152,404,060 - 52,417,018 (+)Ensembl
Ensembl Acc Id: ENST00000956531   ⟹   ENSP00000626590
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl152,404,602 - 52,417,013 (+)Ensembl
RefSeq Acc Id: NM_032864   ⟹   NP_116253
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38152,404,602 - 52,420,836 (+)NCBI
GRCh37152,870,219 - 52,883,992 (+)RGD
Build 36152,642,807 - 52,656,580 (+)NCBI Archive
Celera151,156,917 - 51,170,690 (+)RGD
HuRef150,986,164 - 50,999,936 (+)ENTREZGENE
CHM1_1152,987,600 - 53,001,373 (+)NCBI
T2T-CHM13v2.0152,286,071 - 52,302,304 (+)NCBI
Sequence:
RefSeq Acc Id: NP_116253   ⟸   NM_032864
- UniProtKB: Q96JW1 (UniProtKB/Swiss-Prot),   Q9BVZ8 (UniProtKB/Swiss-Prot),   Q8NAV1 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000257181   ⟸   ENST00000257181
Ensembl Acc Id: ENSP00000549524   ⟸   ENST00000879465
Ensembl Acc Id: ENSP00000549522   ⟸   ENST00000879463
Ensembl Acc Id: ENSP00000591649   ⟸   ENST00000921590
Ensembl Acc Id: ENSP00000626590   ⟸   ENST00000956531
Ensembl Acc Id: ENSP00000549523   ⟸   ENST00000879464

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q8NAV1-F1-model_v2 AlphaFold Q8NAV1 1-312 view protein structure

Promoters
RGD ID:6855552
Promoter ID:EPDNEW_H941
Type:initiation region
Name:PRPF38A_1
Description:pre-mRNA processing factor 38A
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
GRCh38152,404,602 - 52,404,662EPDNEW
RGD ID:6786200
Promoter ID:HG_KWN:2755
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_004153,   NM_032864,   OTTHUMT00000022461,   UC001CTU.1,   UC001CTW.2,   UC009VZD.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36152,642,071 - 52,643,422 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:25930 AgrOrtholog
COSMIC PRPF38A COSMIC
Ensembl Genes ENSG00000134748 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000257181 ENTREZGENE
  ENST00000257181.10 UniProtKB/Swiss-Prot
GTEx ENSG00000134748 GTEx
HGNC ID HGNC:25930 ENTREZGENE
Human Proteome Map PRPF38A Human Proteome Map
InterPro PRP38 UniProtKB/Swiss-Prot
  PRP38_C UniProtKB/Swiss-Prot
KEGG Report hsa:84950 UniProtKB/Swiss-Prot
NCBI Gene 84950 ENTREZGENE
OMIM 617031 OMIM
PANTHER PTHR23142 UniProtKB/Swiss-Prot
Pfam PRP38 UniProtKB/Swiss-Prot
  PRP38_assoc UniProtKB/Swiss-Prot
PharmGKB PA142671125 PharmGKB
UniProt PR38A_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q96JW1 ENTREZGENE
  Q9BVZ8 ENTREZGENE
UniProt Secondary Q96JW1 UniProtKB/Swiss-Prot
  Q9BVZ8 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2013-10-22 PRPF38A  pre-mRNA processing factor 38A    PRP38 pre-mRNA processing factor 38 (yeast) domain containing A  Symbol and/or name change 5135510 APPROVED