HsaEX6035551 @ hg38
Exon Skipping
Gene
ENSG00000143341 | HMCN1
Description
hemicentin 1 [Source:HGNC Symbol;Acc:HGNC:19194]
Coordinates
chr1:186003718-186015437:+
Coord C1 exon
chr1:186003718-186003844
Coord A exon
chr1:186007128-186007282
Coord C2 exon
chr1:186015159-186015437
Length
155 bp
Sequences
Splice sites
3' ss Seq
TAAAGTTTTATTTTTTCTAGGCC
3' ss Score
7.25
5' ss Seq
ATAGTAAGT
5' ss Score
8.65
Exon sequences
Seq C1 exon
TTCCACCCACCATAATAGGTACCAACTTCCCAAATGAAGTCTCAGTTGTCCTCAACCGTGACGTCGCCCTTGAATGCCAGGTCAAAGGCACTCCCTTTCCTGATATTCATTGGTTCAAAGATGGCAA
Seq A exon
GCCTTTATTTTTGGGCGATCCTAATGTTGAACTTCTAGACAGAGGACAAGTCTTACATTTAAAGAATGCACGGAGAAATGACAAGGGGCGCTACCAATGTACTGTGTCTAATGCAGCTGGCAAACAAGCCAAGGATATAAAACTGACTATCTATA
Seq C2 exon
TTCCACCTAGTATTAAAGGAGGAAATGTCACCACAGACATATCAGTATTGATCAACAGCCTTATTAAACTGGAATGTGAAACACGGGGACTTCCAATGCCTGCCATTACTTGGTATAAGGACGGGCAGCCAATCATGTCCAGCTCACAAGCACTTTATATTGATAAAGGACAATATCTTCATATTCCTCGAGCACAGGTCTCTGATTCAGCAACATATACGTGTCATGTAGCCAATGTTGCTGGAACTGCTGAAAAATCATTCCATGTGGATGTCTATG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000143341-'54-54,'54-51,56-54=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=PU(41.4=83.7)
A:
PF0767911=I-set=PD(57.5=94.3)
C2:
PF0767911=I-set=WD(100=90.4)
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:
TCCACCCACCATAATAGGTACCA
R:
GCTGCCCGTCCTTATACCAAG
Band lengths:
255-410
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains