HsaEX6016709 @ hg38
Exon Skipping
Gene
ENSG00000115840 | SLC25A12
Description
solute carrier family 25 member 12 [Source:HGNC Symbol;Acc:HGNC:10982]
Coordinates
chr2:171844369-171848276:-
Coord C1 exon
chr2:171848173-171848276
Coord A exon
chr2:171845727-171845858
Coord C2 exon
chr2:171844369-171844508
Length
132 bp
Sequences
Splice sites
3' ss Seq
AAGTATTTGTCCCTACTTAGGGA
3' ss Score
6.5
5' ss Seq
CTGGTAGAA
5' ss Score
1.17
Exon sequences
Seq C1 exon
GAGGAGTTCTCTGGCCACACCGTTGGTACAGCAGCTCCTTCCAGGCTCATTCATGGAACAGGCATGGTGGCAGTCTTGGAGAAGAGTGCCAGCCCCGGTCAGAG
Seq A exon
GGAAGAAATGAATCCTGCATTCCATTTCAAAGAAAAGATGAGAATCCCATCTCCCCAGTGACATCCAATGCCTTCTTCCAACTTTGCTGATTGCTGCAATCTATTCAGAGCTATTATATTGACTCTAGACTG
Seq C2 exon
AAAATGTCAAAGAAATTTTTGGACAGACTATTATTCATCATCATATCCCTTTTAACTGGGATTGTGAATTTATCCGACTGCATTTTGGGCATAACCGGAAGAAGCATCTTAACTACACAGAATTCACGCAGTTTCTCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000115840_MULTIEX1-6/6=5-C2
Average complexity
C3
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.152 A=0.121 C2=0.000
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
PF0003627=EF-hand_1=PD(31.0=19.1),PF134991=EF-hand_7=PU(43.9=53.2)
Other Inclusion Isoforms:
NA
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:
GAGGAGTTCTCTGGCCACACC
R:
TGGAGAAACTGCGTGAATTCTGT
Band lengths:
243-375
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains