HsaEX6041092 @ hg38
Exon Skipping
Gene
ENSG00000134871 | COL4A2
Description
collagen type IV alpha 2 chain [Source:HGNC Symbol;Acc:HGNC:2203]
Coordinates
chr13:110504148-110508221:+
Coord C1 exon
chr13:110504148-110504264
Coord A exon
chr13:110506415-110506606
Coord C2 exon
chr13:110507935-110508221
Length
192 bp
Sequences
Splice sites
3' ss Seq
CTCTCTTTCTCGGGCTGCAGGTG
3' ss Score
9.26
5' ss Seq
TGGGTAGGT
5' ss Score
6.86
Exon sequences
Seq C1 exon
GTTTCCGTGGGGCTCCAGGGAAAGCTGGGCCCCAAGGAAGAGGTGGTGTGTCTGCTGTTCCCGGCTTCCGGGGAGATGAAGGACCCATAGGCCACCAGGGGCCGATTGGCCAAGAAG
Seq A exon
GTGCACCAGGCCGTCCAGGGAGCCCGGGCCTGCCGGGTATGCCAGGCCGCAGCGTCAGCATCGGCTACCTCCTGGTGAAGCACAGCCAGACGGACCAGGAGCCCATGTGCCCAGTGGGCATGAACAAACTCTGGAGTGGATACAGCCTGCTGTACTTCGAGGGCCAGGAGAAGGCGCACAACCAGGACCTGG
Seq C2 exon
GGCTGGCGGGCTCCTGCCTGGCGCGGTTCAGCACCATGCCCTTCCTGTACTGCAACCCTGGTGATGTCTGCTACTATGCCAGCCGGAACGACAAGTCCTACTGGCTCTCTACCACTGCGCCGCTGCCCATGATGCCCGTGGCCGAGGACGAGATCAAGCCCTACATCAGCCGCTGTTCTGTGTGTGAGGCCCCGGCCATCGCCATCGCGGTCCACAGTCAGGATGTCTCCATCCCACACTGCCCAGCTGGGTGGCGGAGTTTGTGGATCGGATATTCCTTCCTCATG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000134871-'103-103,'103-99,105-103=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=1.000 A=0.489 C2=0.068
Domain overlap (PFAM):
C1:
PF0139113=Collagen=PD(39.6=52.5),PF0139113=Collagen=PU(62.1=90.0)
A:
PF0139113=Collagen=PD(36.2=32.3),PF0141314=C4=PU(39.8=66.2)
C2:
PF0141314=C4=PD(59.3=66.7),PF0141314=C4=PU(26.1=31.2)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GAAGAGGTGGTGTGTCTGCTG
R:
TAGGGCTTGATCTCGTCCTCG
Band lengths:
244-436
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains