HsaEX6052849 @ hg38
Exon Skipping
Gene
ENSG00000197565 | COL4A6
Description
collagen type IV alpha 6 chain [Source:HGNC Symbol;Acc:HGNC:2208]
Coordinates
chrX:108159462-108161735:-
Coord C1 exon
chrX:108161619-108161735
Coord A exon
chrX:108160463-108160654
Coord C2 exon
chrX:108159462-108159748
Length
192 bp
Sequences
Splice sites
3' ss Seq
TTATGATCTGTCTCTCTCAGGAG
3' ss Score
9.06
5' ss Seq
TGGGTAGGT
5' ss Score
6.86
Exon sequences
Seq C1 exon
GCTCCAAAGGTTTACCTGGCATCCCCGGTAAAGATGGCCCCAGTGGGCTCCCAGGCCCACCTGGGGCTCTTGGTGATCCTGGTCTGCCTGGACTGCAAGGCCCTCCAGGATTTGAAG
Seq A exon
GAGCTCCAGGGCAGCAAGGCCCCTTCGGGATGCCTGGAATGCCTGGCCAGAGCATGAGAGTGGGCTACACGTTGGTAAAGCACAGCCAGTCGGAACAGGTGCCCCCGTGTCCCATCGGGATGAGCCAGCTGTGGGTGGGGTACAGCTTACTGTTTGTGGAGGGGCAAGAGAAAGCCCACAACCAGGACCTGG
Seq C2 exon
GCTTTGCTGGCTCCTGTCTGCCCCGCTTCAGCACCATGCCCTTCATCTACTGCAACATCAACGAGGTGTGCCACTATGCCAGGCGCAATGATAAATCTTACTGGCTCTCCACTACCGCCCCTATCCCCATGATGCCCGTCAGCCAGACCCAGATTCCCCAGTACATCAGCCGCTGCTCTGTGTGTGAGGCACCCTCGCAAGCCATTGCTGTGCACAGCCAGGACATCACCATCCCGCAGTGCCCCCTGGGCTGGCGCAGCCTCTGGATTGGGTACTCTTTCCTCATG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000197565-'61-68,'61-66,64-68
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=1.000 A=0.338 C2=0.000
Domain overlap (PFAM):
C1:
PF0139113=Collagen=PD(45.0=67.5),PF0139113=Collagen=PU(62.9=97.5)
A:
PF0139113=Collagen=PD(35.5=33.8),PF0141314=C4=PU(39.8=66.2)
C2:
PF0141314=C4=PD(59.3=66.7),PF0141314=C4=PU(25.9=31.2)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CAAGGCCCTCCAGGATTTGAA
R:
GATGGTGATGTCCTGGCTGTG
Band lengths:
255-447
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains