HsaEX6035523 @ hg38
Exon Skipping
Gene
ENSG00000143341 | HMCN1
Description
hemicentin 1 [Source:HGNC Symbol;Acc:HGNC:19194]
Coordinates
chr1:186086246-186087645:+
Coord C1 exon
chr1:186086246-186086407
Coord A exon
chr1:186087217-186087330
Coord C2 exon
chr1:186087443-186087645
Length
114 bp
Sequences
Splice sites
3' ss Seq
TGCATTCTATTTACCTACAGGTG
3' ss Score
10.85
5' ss Seq
ATGGTTCGT
5' ss Score
6.1
Exon sequences
Seq C1 exon
TTCCTCCAAGTGTCATTGGTCCTAAATCTGAAAATCTTACCGTCGTGGTGAACAATTTCATCTCTTTGACCTGTGAGGTCTCTGGTTTTCCACCTCCTGACCTCAGCTGGCTCAAGAATGAACAGCCCATCAAACTGAACACAAATACTCTCATTGTGCCTG
Seq A exon
GTGGTCGAACTCTACAGATTATTCGGGCCAAGGTATCAGATGGTGGTGAATACACTTGTATAGCTATCAATCAAGCTGGCGAAAGCAAGAAAAAGTTTTCCCTGACTGTTTATG
Seq C2 exon
TGCCCCCAAGCATTAAAGACCATGACAGTGAATCTCTTTCTGTAGTTAATGTAAGAGAGGGAACTTCTGTGTCTTTGGAGTGTGAGTCGAACGCTGTGCCACCTCCAGTCATCACTTGGTATAAGAATGGGCGGATGATAACAGAGTCTACTCATGTGGAGATTTTAGCTGATGGACAAATGCTACACATTAAGAAAGCTGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000143341-'96-92,'96-91,97-92=AN
Average complexity
A_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=0.029
Domain overlap (PFAM):
C1:
PF0767911=I-set=PU(58.0=92.7)
A:
PF0767911=I-set=PD(40.9=92.3)
C2:
PF0767911=I-set=PU(68.6=86.8)
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:
TCCTCCAAGTGTCATTGGTCCT
R:
GCGTTCGACTCACACTCCAAA
Band lengths:
255-369
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains