HsaEX6035512 @ hg38
Exon Skipping
Gene
ENSG00000143341 | HMCN1
Description
hemicentin 1 [Source:HGNC Symbol;Acc:HGNC:19194]
Coordinates
chr1:186108461-186114123:+
Coord C1 exon
chr1:186108461-186108597
Coord A exon
chr1:186112812-186112953
Coord C2 exon
chr1:186113979-186114123
Length
142 bp
Sequences
Splice sites
3' ss Seq
TCTTTACTTGCTGAATCCAGGCA
3' ss Score
4.44
5' ss Seq
ATGGTAAGA
5' ss Score
9.48
Exon sequences
Seq C1 exon
TACCTCCTAATATTGCTGGAACTGATGAGCCCCGGGATATCACTGTGTTACGGAACAGACAAGTGACATTGGAATGCAAGTCAGATGCAGTGCCCCCACCTGTAATTACTTGGCTCAGAAATGGAGAACGGTTACAG
Seq A exon
GCAACACCTCGAGTGCGAATCCTATCTGGAGGGAGATACTTGCAAATCAACAATGCTGACCTAGGTGATACAGCCAATTATACCTGTGTTGCCAGCAACATTGCAGGAAAGACTACAAGAGAATTTATTCTCACTGTAAATG
Seq C2 exon
TTCCTCCAAACATAAAGGGGGGCCCCCAGAGCCTTGTAATTCTTTTAAATAAGTCAACTGTATTGGAATGCATCGCTGAAGGTGTGCCAACTCCAAGGATAACATGGAGAAAGGATGGAGCTGTTCTAGCTGGGAATCATGCAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000143341-'111-109,'111-108,113-109=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.196 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF0767911=I-set=PU(46.0=87.0)
A:
PF0767911=I-set=PD(51.7=93.8)
C2:
PF0767911=I-set=PU(52.3=93.9)
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:
AACTGATGAGCCCCGGGATAT
R:
ACAGCTCCATCCTTTCTCCATG
Band lengths:
242-384
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains