HsaINT0119374 @ hg38
Intron Retention
Gene
ENSG00000178467 | P4HTM
Description
prolyl 4-hydroxylase, transmembrane [Source:HGNC Symbol;Acc:HGNC:28858]
Coordinates
chr3:49004098-49005046:+
Coord C1 exon
chr3:49004098-49004260
Coord A exon
chr3:49004261-49004860
Coord C2 exon
chr3:49004861-49005046
Length
600 bp
Sequences
Splice sites
5' ss Seq
GAGGTGAGC
5' ss Score
8.7
3' ss Seq
AAATGCCTGCTGCCCACCAGGGT
3' ss Score
4.8
Exon sequences
Seq C1 exon
GAGTGCTGAGTCTGCAGGAGTTCTCCAACATGGACCTTCGGGACTTCCACAAGTACATGAGGAGCCACAAGGCAGAGTCCAGTGAGCTGGTGCGGAACAGCCACCATACCTGGCTCTACCAGGGTGAGGGTGCCCACCACATCATGCGTGCCATCCGCCAGAG
Seq A exon
GTGAGCACCTGAAGCTGTTCTCACTGGAGCAGGGGGAGAAGACTGGGCAGGGCCTCCACAGAAGTCCTTGTCTGGGGCCAAGAGGACAGAATGGATTAACCCATTTGGGATTAAGTTCCATTTGTTAGACCAGGATTGGGACCCACTGAAAGACAGGCAATTAACAAAGGCAAATTAGCCCTCCTTGCAGGCACACAATGGGCAACTGGGGTTAGATAGAGATTGAGCACTTCTTTCTGATTAGATAAATGACCTCTTATCTTTGACCCCTTATCTGACCCCGTCACAGCAGGAAAAGGGTTTTTAAATAAACAACTTTCTTCCAGGGAGGAGGACCTCAGGACTCCCCGCCCCCTTTATTTAGTGGAAATGTCAACATTTCCACATAGCAGGTGTCTCTGTCTTTGGCATCTGAGGGAGAAGGATCATCATGAGTAACCCCCTCCTGCTCTTACAGGGCCAGTCTGAGATGGCTTAAGGGACTTCCAGGGGAGGTGGGTAGGGGCAAAGCTTGTGGCAGGCCTAGGGTCCACCTTGGCCAGCTCCTTCAGATCACCACCTTGCCTGGGGCTGCCCAGCCAAATGCCTGCTGCCCACCAG
Seq C2 exon
GGTGCTGCGCCTCACTCGCCTGTCGCCTGAGATCGTGGAGCTCAGCGAGCCGCTGCAGGTTGTTCGATATGGTGAGGGGGGCCACTACCATGCCCACGTGGACAGTGGGCCTGTGTACCCAGAGACCATCTGCTCCCATACCAAGCTGGTAGCCAACGAGTCTGTACCCTTCGAGACCTCCTGCCG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000178467:ENST00000383729:5
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.023 A=NA C2=0.027
Domain overlap (PFAM):
C1:
PF0003627=EF-hand_1=PD(42.9=21.4)
A:
NA
C2:
PF136401=2OG-FeII_Oxy_3=PU(30.1=69.8)
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GTGCTGAGTCTGCAGGAGTTC
R:
CAGGAGGTCTCGAAGGGTACA
Band lengths:
344-944
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development