HsaEX6063491 @ hg38
Exon Skipping
Gene
ENSG00000148357 | HMCN2
Description
hemicentin 2 [Source:HGNC Symbol;Acc:HGNC:21293]
Coordinates
chr9:130398608-130400947:+
Coord C1 exon
chr9:130398608-130398707
Coord A exon
chr9:130399511-130399632
Coord C2 exon
chr9:130400783-130400947
Length
122 bp
Sequences
Splice sites
3' ss Seq
CGTCTGTCTGTCCACCCCAGGCT
3' ss Score
8.6
5' ss Seq
ATGGTGAGT
5' ss Score
10.13
Exon sequences
Seq C1 exon
CCTTGCTGCCCTGCGAGGCCAGCGGCTCCCCTAAGCCCCTGGTGGTCTGGTGGAAGGACGGACAGAAGCTGGACTTCCGCCTGCAGCAGGGCGCCTACCG
Seq A exon
GCTCCTGCCCTCCAACGCCCTGCTCCTCACGGCCCCCGGCCCCCAGGACTCAGCCCAGTTTGAATGCGTGGTGAGCAATGAGGTGGGCGAGGCCCACAGGCTCTACCAGGTGACCGTCCATG
Seq C2 exon
TGCCTCCCACCATTGCCGATGACCAGACAGACTTCACCGTGACCATGATGGCACCTGTGGTCCTCACATGTCACAGCACGGGTATACCAGCTCCGACCGTGTCCTGGAGCAAGGCAGGCGCCCAGCTAGGAGCTCGGGGGAGTGGCTATCGTGTCTCACCATCGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000148357-'100-102,'100-101,101-102=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=0.000
Domain overlap (PFAM):
C1:
PF0767911=I-set=FE(44.6=100)
A:
PF0767911=I-set=PD(52.7=92.9)
C2:
PF0767911=I-set=PU(60.2=94.6)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CCAGCGGCTCCCCTAAGC
R:
TGGTGAGACACGATAGCCACT
Band lengths:
243-365
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains