Special

HsaEX6008218 @ hg38

Exon Skipping

Gene
ENSG00000179869 | ABCA13
Description
ATP binding cassette subfamily A member 13 [Source:HGNC Symbol;Acc:HGNC:14638]
Coordinates
chr7:48317157-48338455:+
Coord C1 exon
chr7:48317157-48317296
Coord A exon
chr7:48335422-48335535
Coord C2 exon
chr7:48338365-48338455
Length
114 bp
Sequences
Splice sites
3' ss Seq
AAATATGCTTCATTTTGCAGGCT
3' ss Score
8.35
5' ss Seq
CAGGTGAGT
5' ss Score
10.67
Exon sequences
Seq C1 exon
CACCGTTTTGCTTGAAGCTTTATCAGGAAATTCTACAATTGCCAAATGGTGCTTTGGTGTGGACCTTCCTAAAACCCATATTGCATGGAAAAATACTATACACACCAAACACTCCAGAAATTAACAAGGTCATTCAAAAG
Seq A exon
GCTAATTACACCTTTTATATTGTGGACAAACTAAAAACTTTATCAGAAACACTGCTGGAAATGTCCAGCCTTTTCCAGAGAAGTGGAAGTGGCCAGATGTTCAACCAGCTGCAG
Seq C2 exon
GAGGCCCTGAGAAACAAATTTGTAAGAAACTTTGTAGAAAACCAGTTGCACATTGATGTAGACAAACTTACTGAAAAACTCCAGACATACG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000179869-'43-53,'43-52,48-53
Average complexity
C2
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

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

C1:
PF126982=ABC2_membrane_3=PU(6.2=61.7)
A:
PF126982=ABC2_membrane_3=FE(7.9=100)
C2:
PF126982=ABC2_membrane_3=FE(6.4=100)


Main Inclusion Isoform:


Main Skipping Isoform:
ENST00000435803fB8343


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Mouse
(mm9)
No conservation detected
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CACCGTTTTGCTTGAAGCTTT
R:
CGTATGTCTGGAGTTTTTCAGTAAGT
Band lengths:
231-345
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains