HsaEX1016953 @ hg38
Exon Skipping
Gene
ENSG00000148357 | HMCN2
Description
hemicentin 2 [Source:HGNC Symbol;Acc:HGNC:21293]
Coordinates
chr9:130359319-130362165:+
Coord C1 exon
chr9:130359319-130359414
Coord A exon
chr9:130360428-130360604
Coord C2 exon
chr9:130362008-130362165
Length
177 bp
Sequences
Splice sites
3' ss Seq
ATCTCTCTTCCTTTCCCCAGATG
3' ss Score
12.05
5' ss Seq
ATGGTGAGC
5' ss Score
8.27
Exon sequences
Seq C1 exon
TGCCCCCCAACATCGAGCCAGGCCCAGTCAACAAGGCAGTGCTGGAAAATGCCTCAGTGACCTTGGAGTGTCTGGCTTCGGGCGTGCCCCCTCCTG
Seq A exon
ATGTCTCCTGGTTCAAGGGCCACCAACCTGTCTCTTCATGGATGGGAGTGACAGTATCAGTGGATGGGAGAGTTCTCCGCATTGAGCAAGCCCAGCTTTCTGATGCTGGGAGCTACCGCTGTGTGGCATCCAATGTGGCAGGTAGCACAGAGCTGCGGTATGGCCTACGGGTCAATG
Seq C2 exon
TGCCCCCTCGAATCACACTGCCACCCAGCCTGCCAGGCCCTGTGTTGGTCAACACCCCTGTCCGGCTGACCTGCAATGCCACCGGTGCCCCCAGCCCCACACTGATGTGGCTGAAGGATGGAAACCCTGTGTCCCCTGCAGGGACCCCTGGCCTGCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000148357_MULTIEX1-1/8=C1-2
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.245
Domain overlap (PFAM):
C1:
PF0767911=I-set=PU(34.1=90.9)
A:
PF0767911=I-set=PD(64.8=95.0)
C2:
PF0767911=I-set=PU(54.9=94.3)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Conservation
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CCCCCAACATCGAGCCAGG
R:
CTGCAGGGGACACAGGGTTT
Band lengths:
234-411
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains