HsaEX1028543 @ hg38
Exon Skipping
Gene
ENSG00000225190 | PLEKHM1
Description
pleckstrin homology and RUN domain containing M1 [Source:HGNC Symbol;Acc:HGNC:29017]
Coordinates
chr17:45475100-45482525:-
Coord C1 exon
chr17:45482437-45482525
Coord A exon
chr17:45477900-45478147
Coord C2 exon
chr17:45475100-45475726
Length
248 bp
Sequences
Splice sites
3' ss Seq
TTCTGTGTGGTGCTGCCTAGGTC
3' ss Score
7.33
5' ss Seq
CAAGTGAGA
5' ss Score
5.26
Exon sequences
Seq C1 exon
GTGTCATGTGATTCTCTGAGGGAGCAGCTGCGTGAGTGGAGATGCTTTCAGTGGTGGAGAATGGACTGGACCCCCAGGCTGCCATCCCG
Seq A exon
GTCATCAAGAAGAAGCTGGTGGGATCCGTGAAGGCCTTGCAGAAGCAGTACGTGTCCCTGGACACGGTGGTCACTAGTGAAGACGGAGATGCCAACACCATGTGCAGCGCCCTGGAGGCCGTATTTATCCATGGCCTGCACGCCAAGCACATCCGAGCTGAGGCCGGAGGAAAAAGGAAGAAAAGTGCCCACCAGAAGCCTCTGCCCCAGCCTGTCTTCTGGCCCCTCCTGAAAGCTGTCACCCACAA
Seq C2 exon
ACACATCATCTCAGAGTTGGAGCACCTGACGTTTGTCAACACGGATGTGGGCCGCTGCCGGGCATGGCTGCGGCTGGCCCTGAACGATGGCCTGATGGAGTGCTACCTGAAGCTGCTGCTGCAGGAGCAGGCCCGCTTGCATGAGTACTACCAGCCCACCGCCCTGCTCCGGGATGCTGAGGAGGGCGAGTTCCTCCTTAGCTTCCTGCAGGGCCTCACGTCCTTGTCCTTCGAACTCTCCTACAAGTCTGCCATCTTAAATGAGTGGACGCTCACCCCATTGGCCCTGTCTGGGCTTTGCCCGCTTTCTGAGCTGGACCCTCTCTCTACCTCTGGTGCAGAACTACAGCGGAAGGAATCTCTGGATTCCATTTCCCATTCTTCAGGCTCTGAAGACATCGAAGTCCATCACTCGGGCCATAAGATACGGAGGAACCAGAAGCTGACTGCCTCCTCCCTCAGCCTGGACACGGCCAGTTCATCCCAGCTGTCCTGCAGCC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000225190-'2-13,'2-9,6-13
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.146 A=0.070 C2=0.339
Domain overlap (PFAM):
C1:
PF0275914=RUN=PU(11.5=81.2)
A:
PF0275914=RUN=PU(37.3=60.2)
C2:
PF0275914=RUN=PD(61.9=39.5)
Associated events
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGATTCTCTGAGGGAGCAGCT
R:
CCTGCAGGAAGCTAAGGAGGA
Band lengths:
293-541
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains