HsaEX6018917 @ hg38
Exon Skipping
Gene
ENSG00000081052 | COL4A4
Description
collagen type IV alpha 4 chain [Source:HGNC Symbol;Acc:HGNC:2206]
Coordinates
chr2:227050068-227052412:-
Coord C1 exon
chr2:227052305-227052412
Coord A exon
chr2:227050977-227051158
Coord C2 exon
chr2:227050068-227050131
Length
182 bp
Sequences
Splice sites
3' ss Seq
AACACTTCCAACTTCATCAGGTG
3' ss Score
6.67
5' ss Seq
CAGGTAAGG
5' ss Score
11.08
Exon sequences
Seq C1 exon
GAGCCATAGGACCTCCCGGAGATGAAGGAGAAATGGCTATCATTTCACAAAAGGGAACACCTGGGGAACCTGGACCTCCTGGAGATGATGGATTCCCAGGAGAAAGAG
Seq A exon
GTGATAAAGGAACTCCCGGGATGCAAGGGAGAAGAGGAGAGCCGGGAAGATACGGACCACCTGGATTTCACAGAGGGGAACCTGGTGAGAAAGGTCAGCCAGGGCCTCCTGGACCCCCAGGCCCTCCAGGCTCAACTGGTCTAAGAGGGTTCATTGGTTTTCCAGGACTTCCAGGTGACCAG
Seq C2 exon
GGTGAGCCAGGTTCTCCAGGTCCCCCTGGATTTTCAGGAATTGATGGAGCAAGAGGACCTAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000081052-'46-44,'46-43,47-44=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=1.000 A=1.000 C2=1.000
Domain overlap (PFAM):
C1:
PF0139113=Collagen=PD(21.0=35.1),PF0139113=Collagen=PU(34.4=56.8)
A:
PF0139113=Collagen=PD(63.9=63.9),PF0139113=Collagen=PU(53.0=57.4)
C2:
PF0139113=Collagen=FE(31.8=100)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GAGCCATAGGACCTCCCGG
R:
TTAGGTCCTCTTGCTCCATCA
Band lengths:
170-352
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains