HsaINT1027361 @ hg38
Intron Retention
Gene
ENSG00000225190 | PLEKHM1
Description
pleckstrin homology and RUN domain containing M1 [Source:HGNC Symbol;Acc:HGNC:29017]
Coordinates
chr17:45439477-45440226:-
Coord C1 exon
chr17:45440163-45440226
Coord A exon
chr17:45439635-45440162
Coord C2 exon
chr17:45439477-45439634
Length
528 bp
Sequences
Splice sites
5' ss Seq
CAGGTAAGA
5' ss Score
10.77
3' ss Seq
TTCCTACTTGCCCTCCGCAGATC
3' ss Score
11.24
Exon sequences
Seq C1 exon
GCTCAACCACAGGAATTATCTCTTGGAATCTCCGCATAGGTTCAGTGTTGCTGACCTCCAACAG
Seq A exon
GTAAGAGTGTCATGCTTCCCCCGCCCAGACCTCTAGAGAGACTTCATTCCCAGAGAAGTCAGCAAGGAAGATGGAAGAGGGGGTGTCTGTAGTTTACTGAAGAAGACAGCAGTCTGTAGCTTTTCTGCAGCTCAGGGTGGGTTGCCCTGCTGCCCCAGCTTCCTGGGCAGGGACGGATACCCCCAGCACCCCTGGAATAAACAAGCACTCCAGCAACCCCAGGATCACAGGGAAGAGAGTTTGGAATACTCCTTTCCCCAAGGGGAGGGTACAGTGAATTTGGGTCTCAGCTATAAATCCCATTAGCCCCCAGTGACCTCAGTGCCCACGGGCTGGACGCTGGCATTGCTCAGCCTGATTCAGGGAGGTTTTCTTTTCTTGCCCGTGTGGAAACGGGGGGTAGAAGTTCTCCAGGCAGGGTGCCATGGCACCTCAGTGCAGCTGCTTGAAAGGCCTGGGGCCTCAGTTTACCAGCCCTCCGCAGATCGCAGACGGGGTGTATGAAGGATTCCTACTTGCCCTCCGCAG
Seq C2 exon
ATCGCAGACGGGGTGTATGAAGGATTCCTCAAGGCCCTGATTGAATTTGCCTCCCAGCATGTCTACCACTGCGACCTGTGCACCCAGCGCGGCTTCATCTGCCAGATCTGCCAGCACCACGACATCATCTTCCCCTTTGAGTTTGACACCACAGTCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000225190:ENST00000430334:10
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=NA C2=0.000
Domain overlap (PFAM):
C1:
PF139011=DUF4206=FE(48.8=100),PF139011=DUF4206=PU(3.0=9.1)
A:
NA
C2:
PF139011=DUF4206=PD(0.1=0.0),PF139011=DUF4206=FE(50.7=100),PF0062824=PHD=PU(42.6=57.1),PF098454=DUF2072=PU(5.6=5.7)
Other Inclusion Isoforms:
NA
Associated events
Conservation
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GCTCAACCACAGGAATTATCTCT
R:
CTGACTGTGGTGTCAAACTCA
Band lengths:
222-750
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains