Special

HsaEX6032462 @ hg19

Exon Skipping

Gene
ENSG00000060718 | COL11A1
Description
collagen, type XI, alpha 1 [Source:HGNC Symbol;Acc:2186]
Coordinates
chr1:103347253-103352612:-
Coord C1 exon
chr1:103352363-103352612
Coord A exon
chr1:103348755-103348867
Coord C2 exon
chr1:103347253-103347321
Length
113 bp
Sequences
Splice sites
3' ss Seq
TATTTTTTGCTACCTTCTAGGTG
3' ss Score
10.18
5' ss Seq
GGAGTAAGT
5' ss Score
8.57
Exon sequences
Seq C1 exon
GGTCCACCTGGTGAAGTCATTCAGCCTTTACCAATCTTGTCCTCCAAAAAAACGAGAAGACATACTGAAGGCATGCAAGCAGATGCAGATGATAATATTCTTGATTACTCGGATGGAATGGAAGAAATATTTGGTTCCCTCAATTCCCTGAAACAAGACATTGAGCATATGAAATTTCCAATGGGTACTCAGACCAATCCAGCCCGAACTTGTAAAGACCTGCAACTCAGCCATCCTGACTTCCCAGATG
Seq A exon
GTGAATATTGGATTGATCCTAACCAAGGTTGCTCAGGAGATTCCTTCAAAGTTTACTGTAATTTCACATCTGGTGGTGAGACTTGCATTTATCCAGACAAAAAATCTGAGGGA
Seq C2 exon
GTAAGAATTTCATCATGGCCAAAGGAGAAACCAGGAAGTTGGTTTAGTGAATTTAAGAGGGGAAAACTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000060718-'72-75,'72-73,73-75=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=0.791 A=0.042 C2=0.087
Domain overlap (PFAM):

C1:
PF0139113=Collagen=PD(12.7=9.5),PF0141013=COLFI=PU(12.7=32.1)
A:
PF0141013=COLFI=FE(17.5=100)
C2:
PF0141013=COLFI=FE(10.4=100)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GCCTTTACCAATCTTGTCCTCCA
R:
GTTTCTCCTTTGGCCATGATGA
Band lengths:
258-371
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains