Special

HsaEX6018071 @ hg19

Exon Skipping

Gene
ENSG00000178385 | PLEKHM3
Description
pleckstrin homology domain containing, family M, member 3 [Source:HGNC Symbol;Acc:34006]
Coordinates
chr2:208841375-208890284:-
Coord C1 exon
chr2:208890113-208890284
Coord A exon
chr2:208865754-208866681
Coord C2 exon
chr2:208841375-208842310
Length
928 bp
Sequences
Splice sites
3' ss Seq
TCCTGTTTATTTTCTTCCAGGAA
3' ss Score
10.95
5' ss Seq
CTGGTATGT
5' ss Score
8.14
Exon sequences
Seq C1 exon
AGCATTTCAGAGTGGGACCGCGAGAAGCCGCTTGTAAACAGAGCCGGGCCGGGATGGTCAGCGCCCGGGCGGGCTGTCACCGTGAGGCGGGCGGCAGGCTGCGGGAGTCAAGCCCCTCCAGGAGCGGACTGAAGGCCCCGCAGGTGAATGGAGAGTAGCAGCCGGGGCCCAG
Seq A exon
GAAATCAAGGATTGGCGTGGCATTGCTTTGACAAGTACTTGCTGTTGTCTTCACAGAGGTCTCACTGAAGAATAATCTCAAAGGAACATTTGGTCTCCCTATACATCTGTTAATGCCCATTAGCCACTAGCAAATGCTTTTAATTACCAGGAAAACATCAACCACTTTGGGTTTGGCCTGCTCCAGGGAGCCCAATGAAGGTTTCTTCCAGTTGTTTCCATAGCTCTATTGCTGAAGCACCCCTCTTGGTTGGGTGAATGTTCATGAAGCCATTTCTGGAACCAGCTTAGGAGGCTAAGGCCTCCTGGAGCCTGTGACATGGAAGCTTTGGAAGTGGATGATATCAGCCCAGCCTTAGAAGTTACGGAGGAATTCTTTAGTACTTTGGATAGTAATCTAGAAAAGGCTGTGCAGCAGGCAGAGGTTTATGGGATCCAGGAAGTCCCTGAACTGGTGGGGCATGAGGTACTCAGTAACATAACAGACAATGGTGCTATGAGAAATGTCACCTCCCTGGGCAAGGGGGGCATGATTTGGGACCACTGTAAGAGCAGGCTCTTAGAAACCAAAGCTCAAAATGTCTTCCCTGCCAAAGAACAGTTTATGGTCCAGAGAGGGACAACCCCAGATAATCTTTCCTGGATGGAACAAAAGGAAGCATCAACCTTTAATTTCTTCAATATCTGTCAGCGTCGGAGGGACCGGCCTCGTTCTGTAAATGACTTACTGGATGAGACCTCAACTTTCAAGCCAGGGCATGCTCGATCACGATCAGATATTACCCAAGTGGACTGGAGGGTAGTCCTCAAAACCACGCCTTTGCAGCAGCAGCAACAGCAGCAGCCATTGCTTCAAGGCCCGCATGTCACCAGGCCATCTTTTCTGTTGCCCTCACCAAATAAGATAGAAGATGCTCAAGGAAATACTG
Seq C2 exon
AACACAAGCAGACATTCCCAAACATTCTAAAGAAGGGTTACCTGGAGATTAGAAAGGACCATGACAGTTACTGGCAAAGCTGTTATGCAGAACTTTCACCTTACAACTTATACTTCTACAGCCTCGACAGCAGTGGGAATCAAAACCTTTATGCCACGTACCAGCTTTCACACTTCCAGAGCATATCTGTTTTAGGCAACCTGGAGGCCAGGATGGTGGATACTGTTTTGTATGACAACACTCAGCTACAGCTAAAGGCAGAGTCACCATGGGAGGCTTTGGACTGGGGACAGAAGCTTTGGGAAGTAGTGCATGCTGCTGTGCCCGGTTACATGGGGCGGCAGAATGAGCTGACAATCTCACCAGGGCTTGGCCATCATGATGACTATACACAGAATCATAGTTTCCAGAAGAAAACCAGTGGGCTGCTGCCACCGTCCCCTGTCCTGGACAGCTCCAAACAGTACCAAAACATCCTCAAATCAGGGACTCTCTACAGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000178385-'0-2,'0-0,1-2=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion (Ref, Alt. ATG (<=10 exons))

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

C1:
NA
A:
NO
C2:
PF0016924=PH=WD(100=31.0),PF0016924=PH=WD(100=30.4)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
Chicken
(galGal3)
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GTGAATGGAGAGTAGCAGCCG
R:
GCAGCATGCACTACTTCCCAA
Band lengths:
348-1276
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains