HsaEX0048424 @ hg38
Exon Skipping
Gene
ENSG00000178385 | PLEKHM3
Description
pleckstrin homology domain containing M3 [Source:HGNC Symbol;Acc:HGNC:34006]
Coordinates
chr2:207946367-208001957:-
Coord C1 exon
chr2:208001030-208001957
Coord A exon
chr2:207976651-207977586
Coord C2 exon
chr2:207946367-207946512
Length
936 bp
Sequences
Splice sites
3' ss Seq
GCCTCTCTTTTCCTTTCTAGAAC
3' ss Score
12.03
5' ss Seq
CAGGTATGA
5' ss Score
9.46
Exon sequences
Seq C1 exon
TGGGATCCAGGAAGTCCCTGAACTGGTGGGGCATGAGGTACTCAGTAACATAACAGACAATGGTGCTATGAGAAATGTCACCTCCCTGGGCAAGGGGGGCATGATTTGGGACCACTGTAAGAGCAGGCTCTTAGAAACCAAAGCTCAAAATGTCTTCCCTGCCAAAGAACAGTTTATGGTCCAGAGAGGGACAACCCCAGATAATCTTTCCTGGATGGAACAAAAGGAAGCATCAACCTTTAATTTCTTCAATATCTGTCAGCGTCGGAGGGACCGGCCTCGTTCTGTAAATGACTTACTGGATGAGACCTCAACTTTCAAGCCAGGGCATGCTCGATCACGATCAGATATTACCCAAGTGGACTGGAGGGTAGTCCTCAAAACCACGCCTTTGCAGCAGCAGCAACAGCAGCAGCCATTGCTTCAAGGCCCGCATGTCACCAGGCCATCTTTTCTGTTGCCCTCACCAAATAAGATAGAAGATGCTCAAGGAAATACTG
Seq A exon
AACACAAGCAGACATTCCCAAACATTCTAAAGAAGGGTTACCTGGAGATTAGAAAGGACCATGACAGTTACTGGCAAAGCTGTTATGCAGAACTTTCACCTTACAACTTATACTTCTACAGCCTCGACAGCAGTGGGAATCAAAACCTTTATGCCACGTACCAGCTTTCACACTTCCAGAGCATATCTGTTTTAGGCAACCTGGAGGCCAGGATGGTGGATACTGTTTTGTATGACAACACTCAGCTACAGCTAAAGGCAGAGTCACCATGGGAGGCTTTGGACTGGGGACAGAAGCTTTGGGAAGTAGTGCATGCTGCTGTGCCCGGTTACATGGGGCGGCAGAATGAGCTGACAATCTCACCAGGGCTTGGCCATCATGATGACTATACACAGAATCATAGTTTCCAGAAGAAAACCAGTGGGCTGCTGCCACCGTCCCCTGTCCTGGACAGCTCCAAACAGTACCAAAACATCCTCAAATCAGGGACTCTCTACAGGCTGACTGTCCAAAACAACTGGAAGGCATTTACATTTGTGCTGAGCAGGGCTTACCTTATGGCTTTTCAGCCTGGCAAGCTAGACGAGGATCCACTGTTGAGCTACAACGTGGACGTGTGTCTGGCTGTCCAGATGGACAACCTGGATGGCTGCGACTCTTGCTTTCAAGTCATTTTCCCCCAGGATGTCCTTCGCCTCCGAGCTGAGACCCGACAGAGGGCTCAGGAATGGATGGAGGCTCTGAAGATAGCTGCCAATGTGGCGAGGAGTTCAGAGCAAAACCTGCAAGTCACACTGAGGAACAAACCCAAGGATCAAATGGGTGGGCATGAACTCAGGAAGAACAAACGCCAATCTGTGACTACCAGCTTCCTGAGCATTTTGACGACTTTGTCTTTGGAACGAGGACTCACTGCTCAGAGTTTCAAATGTGCAG
Seq C2 exon
GCTGCCAGCGATCCATAGGTCTTTCCAATGGGAAAGCCAAGGTGTGCAACTACAGTGGGTGGTATTACTGCAGTAGCTGCCACGTGGATGACAGCTTTCTCATTCCAGCACGCATAGTCCACAACTGGGATACTTCAAAGTATAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000178385_MULTIEX1-2/3=C1-C2
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (No Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.327 A=0.072 C2=0.000
Domain overlap (PFAM):
C1:
NO
A:
PF0016924=PH=WD(100=30.4)
C2:
PF139011=DUF4206=PU(17.2=71.4)
Main Skipping Isoform:
ENST00000427836fB22857
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ACCGGCCTCGTTCTGTAAATG
R:
AGTTGTGGACTATGCGTGCTG
Band lengths:
354-1290
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
- Pre-implantation embryo development