HsaEX6032408 @ hg38
Exon Skipping
Gene
ENSG00000060718 | COL11A1
Description
collagen type XI alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:2186]
Coordinates
chr1:103025521-103031244:-
Coord C1 exon
chr1:103031116-103031244
Coord A exon
chr1:103026216-103026332
Coord C2 exon
chr1:103025521-103025613
Length
117 bp
Sequences
Splice sites
3' ss Seq
TTTTTTCCTTTGCAATGTAGTAT
3' ss Score
5.71
5' ss Seq
GAGGTAAAA
5' ss Score
7.3
Exon sequences
Seq C1 exon
GGGGACATTCAGCAGTTTTTGATCACAGGTGATCCCAAGGCAGCATATGACTACTGTGAGCATTATAGTCCAGACTGTGACTCTTCAGCACCCAAGGCTGCTCAAGCTCAGGAACCTCAGATAGATGAG
Seq A exon
TATGCACCAGAGGATATAATCGAATATGACTATGAGTATGGGGAAGCAGAGTATAAAGAGGCTGAAAGTGTAACAGAGGGACCCACTGTAACTGAGGAGACAATAGCACAGACGGAG
Seq C2 exon
GCAAACATCGTTGATGATTTTCAAGAATACAACTATGGAACAATGGAAAGTTACCAGACAGAAGCTCCTAGGCATGTTTCTGGGACAAATGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000060718_MULTIEX1-1/4=C1-3
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.377 A=0.924 C2=0.763
Domain overlap (PFAM):
C1:
PF0221019=Laminin_G_2=PD(7.8=23.3)
A:
NO
C2:
NO


Associated events
Other assemblies
Conservation
Cow
(bosTau6)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GGGGACATTCAGCAGTTTTTGA
R:
TTTGTCCCAGAAACATGCCTAGG
Band lengths:
218-335
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains