Special

HsaEX0016557 @ hg19

Exon Skipping

Gene
ENSG00000081052 | COL4A4
Description
collagen, type IV, alpha 4 [Source:HGNC Symbol;Acc:2206]
Coordinates
chr2:227872734-227877013:-
Coord C1 exon
chr2:227876897-227877013
Coord A exon
chr2:227875029-227875217
Coord C2 exon
chr2:227872734-227873020
Length
189 bp
Sequences
Splice sites
3' ss Seq
TTTTTCCTTTGTTCCTCCAGGGC
3' ss Score
12.66
5' ss Seq
TTGGTATGG
5' ss Score
5.53
Exon sequences
Seq C1 exon
GGTGCAAAGGAGAGCCTGGGCTGGATGGCAGGAGGGGTGTGGATGGCGTCCCTGGGTCTCCTGGGCCTCCCGGACGTAAAGGTGACACAGGAGAAGACGGCTACCCTGGAGGACCAG
Seq A exon
GGCCTCCTGGTCCCATTGGGGATCCTGGGCCCAAAGGGTTTGGCCCTGGATACCTCGGTGGCTTCCTCCTGGTTCTCCACAGTCAGACGGACCAGGAGCCCACCTGCCCCCTGGGCATGCCCAGGCTCTGGACTGGGTATAGTCTGTTATACCTGGAAGGGCAAGAGAAAGCTCACAATCAAGACCTTG
Seq C2 exon
GTCTGGCAGGGTCTTGCCTTCCCGTATTTAGCACGCTGCCCTTTGCCTACTGCAACATCCACCAGGTGTGCCACTATGCCCAGAGAAACGACAGATCCTACTGGCTGGCCAGCGCTGCGCCCCTCCCCATGATGCCACTCTCTGAAGAGGCGATCCGCCCCTATGTCAGCCGCTGTGCGGTATGCGAGGCCCCGGCCCAGGCGGTGGCGGTGCACAGCCAGGACCAGTCCATCCCCCCATGTCCGCAGACCTGGAGGAGCCTCTGGATCGGGTATTCATTCCTGATG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000081052_MULTIEX1-2/2=1-C2
Average complexity
C1
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=1.000 A=0.281 C2=0.000
Domain overlap (PFAM):

C1:
PF0139113=Collagen=PD(32.6=37.5),PF0139113=Collagen=FE(65.0=100)
A:
PF0139113=Collagen=PD(31.7=29.7),PF0141314=C4=PU(39.8=67.2)
C2:
PF0141314=C4=PD(59.3=66.7),PF0141314=C4=PU(25.6=31.2)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
HIGH PSI
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGGATGGCAGGAGGGGTG
R:
CGGATCGCCTCTTCAGAGAGT
Band lengths:
253-442
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • The Cancer Genome Atlas (TCGA)
  • Genotype-Tissue Expression Project (GTEx)
  • Autistic and control brains
  • Pre-implantation embryo development