HsaEX6035485 @ hg38
Exon Skipping
Gene
ENSG00000143341 | HMCN1
Description
hemicentin 1 [Source:HGNC Symbol;Acc:HGNC:19194]
Coordinates
chr1:186182168-186190949:+
Coord C1 exon
chr1:186182168-186182287
Coord A exon
chr1:186187883-186188009
Coord C2 exon
chr1:186189512-186190949
Length
127 bp
Sequences
Splice sites
3' ss Seq
GTTCCCTGTGCTGTCCCTAGATA
3' ss Score
10.77
5' ss Seq
AGGGTATGT
5' ss Score
8.34
Exon sequences
Seq C1 exon
ATATTGATGAATGTGAAAATACAGATGCCTGCCAGCATGAGTGTAAGAATACCTTTGGAAGTTATCAGTGCATCTGCCCACCTGGCTATCAACTCACACACAATGGAAAGACATGCCAAG
Seq A exon
ATATCGATGAATGTCTGGAGCAGAATGTGCACTGTGGACCCAATCGCATGTGCTTCAACATGAGAGGAAGCTACCAGTGCATCGATACACCCTGTCCACCCAACTACCAACGGGATCCTGTTTCAGG
Seq C2 exon
GTTCTGCCTCAAGAACTGTCCACCCAATGATTTGGAATGTGCCTTGAGCCCATATGCCTTGGAATACAAACTCGTCTCCCTCCCATTTGGAATAGCCACCAATCAAGATTTAATCCGGCTGGTTGCATACACACAGGATGGAGTGATGCATCCCAGGACAACTTTCCTCATGGTAGATGAGGAACAGACTGTTCCTTTTGCCTTGAGGGATGAAAACCTGAAAGGAGTGGTGTATACAACACGACCACTACGAGAAGCAGAGACCTACCGCATGAGGGTCCGAGCCTCATCCTACAGTGCCAATGGGACCATTGAATATCAGACCACATTCATAGTTTATATAGCTGTGTCCGCCTATCCATACTAAGGAACTCTCCAAAGCCTATTCCACATATTTAAACCGCATTAATCATGGCAATCAAGCCCCCTTCCAGATTACTGTCTCTTGAACAGTTGCAATCTTGGCAGCTTGAAAATGGTGCTACACTCTGTTTTGTGTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000143341-'242-156,'242-154,243-156
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (No Ref, Alt. Stop)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF126622=cEGF=PU(83.3=48.8)
A:
PF126622=cEGF=PD(12.5=7.0)
C2:
NO
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GCCTGCCAGCATGAGTGTAAG
R:
TGGGATGCATCACTCCATCCT
Band lengths:
249-376
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains