Special

HsaEX0048424 @ hg19

Exon Skipping

Gene
ENSG00000178385 | PLEKHM3
Description
pleckstrin homology domain containing, family M, member 3 [Source:HGNC Symbol;Acc:34006]
Coordinates
chr2:208811091-208866681:-
Coord C1 exon
chr2:208865754-208866681
Coord A exon
chr2:208841375-208842310
Coord C2 exon
chr2:208811091-208811236
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_CASSETTE3
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=0.328 A=0.074 C2=0.000
Domain overlap (PFAM):

C1:
NO
A:
PF0016924=PH=WD(100=31.0),PF0016924=PH=WD(100=30.4)
C2:
PF139011=DUF4206=PU(19.7=71.4)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
HIGH PSI
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