HsaEX6035517 @ hg38
Exon Skipping
Gene
ENSG00000143341 | HMCN1
Description
hemicentin 1 [Source:HGNC Symbol;Acc:HGNC:19194]
Coordinates
chr1:186093486-186095521:+
Coord C1 exon
chr1:186093486-186093669
Coord A exon
chr1:186094276-186094373
Coord C2 exon
chr1:186095243-186095521
Length
98 bp
Sequences
Splice sites
3' ss Seq
TGGATCAAATTGTTTCTCAGGAT
3' ss Score
6.45
5' ss Seq
TTGGTATGT
5' ss Score
7.12
Exon sequences
Seq C1 exon
TTACACCTACAATTAGGGGTAATAAAGATGAAGCAGAGAAACTAATGACTTTAGTGGATACTTCAATAAATATTGAATGCAGAGCCACAGGGACGCCTCCACCACAGATAAACTGGCTGAAGAATGGACTTCCTCTGCCTCTCTCCTCCCATATCCGGTTACTGGCAGCAGGACAAGTTATCAG
Seq A exon
GATTGTGAGAGCTCAGGTGTCTGATGTCGCTGTGTATACTTGTGTGGCCTCCAACAGAGCTGGGGTGGATAATAAGCATTACAATCTTCAAGTGTTTG
Seq C2 exon
CACCACCAAATATGGACAATTCAATGGGGACAGAGGAAATCACAGTTCTCAAAGGTAGTTCCACCTCTATGGCATGCATTACTGATGGAACCCCAGCTCCCAGTATGGCCTGGCTTAGAGATGGCCAGCCTCTGGGGCTTGATGCCCATCTGACAGTCAGCACCCATGGAATGGTCCTGCAGCTCCTCAAAGCAGAGACTGAAGATTCGGGAAAGTACACCTGCATTGCCTCAAATGAAGCTGGAGAAGTCAGCAAGCACTTTATCCTCAAGGTCCTAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000143341_CASSETTE4
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.016 A=0.000 C2=0.117
Domain overlap (PFAM):
C1:
PF0767911=I-set=PU(62.4=85.5)
A:
PF0767911=I-set=PD(36.5=91.2)
C2:
PF0767911=I-set=WD(100=92.6)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CCATATCCGGTTACTGGCAGC
R:
CCAGAGGCTGGCCATCTCTAA
Band lengths:
171-269
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains