Special

HsaEX6069462 @ hg19

Exon Skipping

Gene
Description
serine/arginine repetitive matrix 4 [Source:HGNC Symbol;Acc:29389]
Coordinates
chr12:119419396-119552169:+
Coord C1 exon
chr12:119419396-119419818
Coord A exon
chr12:119540041-119540187
Coord C2 exon
chr12:119552083-119552169
Length
147 bp
Sequences
Splice sites
3' ss Seq
CCTTATTTCTTCTTCTGTAGGAC
3' ss Score
10.78
5' ss Seq
CAGGTGAGA
5' ss Score
9.22
Exon sequences
Seq C1 exon
CAGAAAGCCAGCCCTCCCTTCCCTTCTTGGGGCGCAGAGGCTCAGCCAGCTCAGAGCGCAGCCTGGAGCCGACCCAGAAGGGCGAAGAAAGCCCAGCGGACGAGCCTCCTTTCTCTGCTGCCTGCCCGGGCTGGGGCGTCCCATCCCCCGCCCTGAACTCCGATCTCTCCCACCCCACCCCTCTCTGGGTTTCACCCGGACAGAGCCGGGAGCTGGGTGTCGCCCCCGTTTGGAATCCACGTTTCAGCACTTTGGACAGCGCCCCGGACGCCCCGGCCCCTTTGGGTTGGCGATGGCGAGCGTTCAGCAAGGCGAGAAGCAGCTTTTTGAGAAGTTCTGGCGAGGAACCTTCAAAGCGGTGGCCACCCCCCGTCCCGAGAGCATCATTGTCGCCAGTATCACGGCCCGCAAGCCGCTGCCAAG
Seq A exon
GACAGAGCCCCAGAATAACCCCGTTGTCCCAGCTCAGGATGGACCCTCAGAAAAGCTGGGTCAGCATCTGGCCACCGAGCCCTTGGGCACCAACAGTTGGGAGAGAGACAAGACCTGTCGGGAACTGGGTGCCACCAGAGGACACAG
Seq C2 exon
TGCCTCTCATGACAAAGACTTGACACCACCACCTTCCTCCAGGGGAAAGAAGAAAAAGAAGAAATCCACTCGGAAGAAGAGAAGGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000139767-'0-1,'0-0,1-1=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=0.705 A=1.000 C2=1.000
Domain overlap (PFAM):

C1:
NO
A:
NO
C2:
NO


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
ALTERNATIVE
([1])
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CCCCGTTTGGAATCCACGTTT
R:
TCTTTCCCCTGGAGGAAGGTG
Band lengths:
250-397
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains