Special

HsaEX7000647 @ hg38

Exon Skipping

Gene
ENSG00000152061 | RABGAP1L
Description
RAB GTPase activating protein 1 like [Source:HGNC Symbol;Acc:HGNC:24663]
Coordinates
chr1:174241483-174250632:+
Coord C1 exon
chr1:174241483-174241657
Coord A exon
chr1:174242982-174243179
Coord C2 exon
chr1:174250475-174250632
Length
198 bp
Sequences
Splice sites
3' ss Seq
CCTTACGAACTCCACTACAGAGG
3' ss Score
3.4
5' ss Seq
ATGGTATGA
5' ss Score
6.56
Exon sequences
Seq C1 exon
AATTATAGACCAATCCAGCAATGTGGAGATAGCATCTTTTCCAATCTATAAGGTGTTATTCTGTGCACGTGGACATGACGGAACAACAGAGAGCAATTGCTTTGCATTTACAGAGAGTTCCCATGGTTCGGAAGAATTTCAGATACATGTTTTCTCCTGTGAAATTAAAGAGGCA
Seq A exon
AGGTGGGGAAGCAGATGGTAGAATCCTGGCATTTCATGTTGGCAGCCATCATTTAACCCACCTGTGTGATTTCCGAATCACTGGAGCTCAACAGCAAGGAAATGAGCTTTGAAGACCTGGAAAATCTGCTGCTTGGAGAGAGAGAAATGCTGCTGCAGAAGGATACTGAATTGCTGCAAGAAGTTTCCATAACTAATG
Seq C2 exon
GTAAGCAGAATTTTGTACAGTTTCTGTACAGCATTCAAACGTTCTTCCAGACAAGTGTCTGATGTTAAAGACTCAGTTATTCCTACCCCCGACAGTGATGTGTTTACCTTCAGTGTCTCCTTGGAGGTAAAAGAAGACGATGGAAAAGGAAACTTTAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000152061-'30-25,'30-21,32-25=AN
Average complexity
A_C1
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.005 A=0.000 C2=0.052
Domain overlap (PFAM):

C1:
PF0064018=PID=FE(46.4=100)
A:
PF0064018=PID=PD(0.1=0.0)
C2:
PF0064018=PID=PD(13.6=32.1),PF124733=DUF3694=PU(1.5=3.8)


Main Inclusion Isoform:


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Associated events
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:
TTCTGTGCACGTGGACATGAC
R:
CCTCCAAGGAGACACTGAAGG
Band lengths:
244-442
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains