Special

MmuALTD0008629-2/2 @ mm10

Alternative 5'ss

Gene
Description
methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria [Source:MGI Symbol;Acc:MGI:1923786]
Coordinates
chr2:50279881-50281189:-
Coord C1 exon
chr2:50281103-50281189
Coord A exon
chr2:50281099-50281102
Coord C2 exon
chr2:50279881-50280402
Length
4 bp
Sequences
Splice sites
5' ss Seq
TAAGTAAAT
5' ss Score
1.48
3' ss Seq
TCATTTCTCCTTTCCTCCAGTTT
3' ss Score
9.68
Exon sequences
Seq C1 exon
TTCATCAGTGGTGCTAAGGAGATCTGCTATGCCCTTCGGGCTGAAGGATACTGGGCTGACTTCATTGACCCATCATCTGGTGTGGCA
Seq A exon
GTAA
Seq C2 exon
TTTTTTGGACCATATACCAACAACACACTTTTTGAAACAGATGAACGGTACCGGCATTTAGGATTCTCAGTTGACGACCTTGGCTGCTGTAAAGTGATCCGTCACAGTCTCTGGGGCACTCATGTGGTTGTAGGAAGTATCTTCACTAACGCAACAGCAGACAGCAGTATCATGAGGAAGCTCAGTGGAAACTAGCAGCTGGCACTGTGATCCCTGCAGCGCTGTTTGTCTGTCATGGATTGCTCTATATAAACACTGTCATGGACAGCAGCTTCTAGAGGATTCTTGTTTCTAGGTATTTATTGTATCATTTATGGGTTTACATGGACAGGTGACTTGGGGTTTCAGAATTGCAAATGCTAGTTCCTATTCTGGAGTGCATGCTGAACACATCCATATTCTGCAAAGTGAGGTCATCAGCTTGTAACCAGGGTATGTGTGTTCTCTTAGGGTTGATTCTCCCCTTTATTGGGAAAACTTTAATTATTTTTTCCAAAAAT
VastDB Features
Vast-tools module Information
Secondary ID
ENSMUSG00000026766-18-22,19-22-2/2
Average complexity
Alt5
Mappability confidence:
NA
Protein Impact

Protein isoform when splice site is used (No Ref, Alt. Stop)

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

C1:
PF102294=DUF2246=FE(10.1=100),PF133151=DUF4085=PD(12.6=48.3)
A:
NA
C2:
PF102294=DUF2246=PD(22.5=95.4)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CTGGGCTGACTTCATTGACCC
R:
GCCGGTACCGTTCATCTGTTT
Band lengths:
92-96
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Pre-implantation embryo development
  • Ribosome-engaged transcriptomes of neuronal types
  • Neural differentiation time course
  • Muscular differentiation time course
  • Spermatogenesis cell types
  • Reprogramming of fibroblasts to iPSCs
  • Hematopoietic precursors and cell types