Special

HsaEX1028547 @ hg38

Exon Skipping

Gene
ENSG00000225190 | PLEKHM1
Description
pleckstrin homology and RUN domain containing M1 [Source:HGNC Symbol;Acc:HGNC:29017]
Coordinates
chr17:45437128-45454272:-
Coord C1 exon
chr17:45453455-45454272
Coord A exon
chr17:45439477-45439634
Coord C2 exon
chr17:45437128-45437440
Length
158 bp
Sequences
Splice sites
3' ss Seq
TTCCTACTTGCCCTCCGCAGATC
3' ss Score
11.24
5' ss Seq
CAGGTATGC
5' ss Score
9.37
Exon sequences
Seq C1 exon
ATGAGTGGGTGAACGTGCAGTACCCAGACCAGCCTGAGGAACCCCCCGAGGCGCCCCAGGGCTGCCTCTCTCCCTCAGACCTGCTCTCGGAGCCCGCGGCCCTCCAGGGCACACAGTTTGACTGGTCGTCCGCCCAGGTTCCAGAGCCAGATGCCATCAAGGAGTCCCTGCTGTACTTGTACATGGACAGGACCTGGATGCCCTATATATTTTCTCTGTCCTTGGAGGCTCTGAAATGTTTCCGCATCAGGAACAATGAGAAGATGCTGAGTGACAGCCACGGCGTGGAGACCATCCGGGACATCCTGCCAGACACCAGCCTTGGGGGCCCATCCTTCTTCAAAATCATCACGGCCAAGGCTGTCCTGAAGCTGCAGGCCGGAAACGCCGAGGAAGCCGCCCTGTGGAGGGATCTGGTCCGCAAAGTCCTGGCATCCTACTTGGAGACAGCCGAGGAGGCGGTGACCCTGGGCGGGAGCCTGGATGAAAACTGTCAGGAG
Seq A exon
ATCGCAGACGGGGTGTATGAAGGATTCCTCAAGGCCCTGATTGAATTTGCCTCCCAGCATGTCTACCACTGCGACCTGTGCACCCAGCGCGGCTTCATCTGCCAGATCTGCCAGCACCACGACATCATCTTCCCCTTTGAGTTTGACACCACAGTCAG
Seq C2 exon
AAAGTATTTTTTTATTCTTGACCCTACGTGAGTCACCCATGAAATCCAGACATTCTCACCCCCAGCGGATGCACAGGAGCCACTCAGGCCTGGCTTAGAGGTAGCGGGTGGCTGGTGGGCAGGCCACTGCTGGGACAGGGTCTATGGGCCCACCCAGTGCCTTTCCTTGGCCCTCACTGCCAGTGCCAAACCGCCCCTCAGCAGGGCAGGGCCAGTCCTGGCGACCCCGGTTCCTCTGTGTCCTCTTTACTCCCCACCCCAGTGCGTCTCGCCTGCTGAGCCCACCGCTTTCTCAGCGTCAGAGCCCCTAGCT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000225190_MULTIEX2-5/7=C1-7
Average complexity
C3*
Mappability confidence:
100%=100=100%
Protein Impact

In the CDS, with uncertain impact

No structure available
Features
Disorder rate (Iupred):
  C1=0.088 A=0.000 C2=NA
Domain overlap (PFAM):

C1:
NO
A:
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)
C2:
NA


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
NA
Associated events
Conservation
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GAGACCATCCGGGACATCCTG
R:
TCATGGGTGACTCACGTAGGG
Band lengths:
255-413
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains