HsaEX6035511 @ hg38
Exon Skipping
Gene
ENSG00000143341 | HMCN1
Description
hemicentin 1 [Source:HGNC Symbol;Acc:HGNC:19194]
Coordinates
chr1:186112812-186114946:+
Coord C1 exon
chr1:186112812-186112953
Coord A exon
chr1:186113979-186114123
Coord C2 exon
chr1:186114819-186114946
Length
145 bp
Sequences
Splice sites
3' ss Seq
CATGTGTATCTCTTGTTCAGTTC
3' ss Score
8.67
5' ss Seq
AAGGTAACC
5' ss Score
9.24
Exon sequences
Seq C1 exon
GCAACACCTCGAGTGCGAATCCTATCTGGAGGGAGATACTTGCAAATCAACAATGCTGACCTAGGTGATACAGCCAATTATACCTGTGTTGCCAGCAACATTGCAGGAAAGACTACAAGAGAATTTATTCTCACTGTAAATG
Seq A exon
TTCCTCCAAACATAAAGGGGGGCCCCCAGAGCCTTGTAATTCTTTTAAATAAGTCAACTGTATTGGAATGCATCGCTGAAGGTGTGCCAACTCCAAGGATAACATGGAGAAAGGATGGAGCTGTTCTAGCTGGGAATCATGCAAG
Seq C2 exon
ATATTCCATCTTGGAAAATGGATTCCTTCATATTCAATCAGCACATGTCACTGACACTGGACGGTATTTGTGTATGGCCACCAATGCTGCTGGAACAGATCGCAGGCGAATAGATTTACAGGTCCATG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000143341-'113-110,'113-109,115-110=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=0.000 A=0.000 C2=0.114
Domain overlap (PFAM):
C1:
PF0767911=I-set=PD(51.7=93.8)
A:
PF0767911=I-set=PU(52.3=93.9)
C2:
PF0767911=I-set=PD(46.6=93.2)
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:
TCGAGTGCGAATCCTATCTGGA
R:
ACCTGTAAATCTATTCGCCTGCG
Band lengths:
257-402
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains