HsaEX1008085 @ hg38
Exon Skipping
Gene
ENSG00000241322 | CDRT1
Description
CMT1A duplicated region transcript 1 [Source:HGNC Symbol;Acc:HGNC:14379]
Coordinates
chr17:15588388-15593821:-
Coord C1 exon
chr17:15593721-15593821
Coord A exon
chr17:15593337-15593495
Coord C2 exon
chr17:15588388-15589227
Length
159 bp
Sequences
Splice sites
3' ss Seq
GCTACTCTGTTCCCTTCCAGAGA
3' ss Score
8.64
5' ss Seq
CAGGTGGGT
5' ss Score
8.56
Exon sequences
Seq C1 exon
CCCCGTCTCTACTAAATACAAAAAAATTAGCCAGGCTTGGTGGCGCATCACTGTAATCCCAGCTACTTGGAAGACTGAGACAGGAGAATCACTTGTGTCTG
Seq A exon
AGAGGTGCTCGACGTGTCCCTTCTCTTCCTCCGGGTCATCAGCGCCTGTGCAGATGGCAAGATCCGAATTTACAATTTCTTCAATGGGAACTGTATGAAGGTGATAAAAGCCAATGGCAGAGGCGATCCTGTGCTGTCCTTCTTTATTCAGGGCAACAG
Seq C2 exon
AATTTCAGTCTGCCACATCAGCACATTTGCTAAAAGAATTAACGTGGGATGGAATGGAATCGAACCAAGTGCTACAGCTCAGGGAGGAAATGCCTCCTTGACCGAGTGTGCTCATGTGAGACTCCACATCGCAGGACACTTACCAGCATCGAGGCTGCCCGTGGCCGCTGTCCAGCCCATGACAGGCGGGATGGCCCCAACCACAGCTCCGACCCATGTGTTGGCAATGCTGATCCTTTTCAGTGGTGTGTAGCAGCAGGTATACAGGAAAATGTTGAAGAGCCCCAGGGCTCCTGTGAGTGGATTCACCCCCAAGGTCAGAATGGCAACTCCTGGAACAGCACAACAAGTGGCAAAGGACACAGCTAGCAACGGGCTGGAAAAAGGCAGAGAACGTGGAGTGATCATCTCCAACTCAACTCAATCACACTGCCTAAAATCGGCACTGACAAAGTACAAATAATCCACCTATCCAGTAGAGGCAGCACTGATCTGGCTGA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000241322-'12-15,'12-14,13-15
Average complexity
C2
Mappability confidence:
100%=50=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=NA A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
NA
A:
NO
C2:
NO
Other Skipping Isoforms:
NA
Associated events
Conservation
Mouse
(mm9)
No conservation detected
Rat
(rn6)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGGTGGCGCATCACTGTAATC
R:
CCTGTCATGGGCTGGACAG
Band lengths:
250-409
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains