Special

HsaINT0049615 @ hg19

Intron Retention

Gene
Description
dynein, axonemal, heavy chain 2 [Source:HGNC Symbol;Acc:2948]
Coordinates
chr17:7680764-7681498:+
Coord C1 exon
chr17:7680764-7680952
Coord A exon
chr17:7680953-7681394
Coord C2 exon
chr17:7681395-7681498
Length
442 bp
Sequences
Splice sites
5' ss Seq
AAGGTGCCA
5' ss Score
3.41
3' ss Seq
TTCTGCGCTGTTTTCCCCAGGAT
3' ss Score
11.04
Exon sequences
Seq C1 exon
GTGTCAATCCTGAATAAGTATTCAGAAGCCATCAGGGGGAACTTGACCAAGATCATGCGGCTTAAAATTGTGGCTCTGGTGACGATAGAAATTCATGCCCGGGATGTGTTGGAGAAGCTTTACAAGAGTGGCCTCATGGATGTCAATTCCTTTGACTGGCTCAGCCAACTTCGGTTCTACTGGGAGAAG
Seq A exon
GTGCCAGATGGGCCACCTCCCCACTCTCTTACCGTAAAATGGATCCTAATGCTTTTATTGCATCCATGTTCTGTAAATGCAAGGATATCCTAAGCCAACCCTTAGTCCTGTCCCACTACCCTAATCCGGTTCTTCCTTCCATCTCCTCCCCACAATCAGGAGTGGCAAGTAGTTGTCCCAGTCAGGGCTCACTATGAATGTCACTTGAACAGGACTCAGAAACACTCCAGGCAGCTGCTGCATTGGGTCGGGGTGGATGTGCAACATGAAACCCATTTTCCATCTTGCCCATAAACCGCTCCCCTTTTCAACTCTAAAAGGGAACCCCTGATCCCTTCACTGCAGCCTCCCTGACAACTCTGAGCCCCACTCTCAGTCATTGTCCCAGCTCTAACTCTCCTTCCAAGCCCACCTCTCTCTTTTTCTGCGCTGTTTTCCCCAG
Seq C2 exon
GATCTTGATGACTGTGTCATCCGCCAGACCAACACGCAATTTCAGTATAATTATGAGTACTTGGGTAACTCGGGCCGGCTCGTCATCACCCCCCTGACGGACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000183914-DNAH2:NM_020877:32
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

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

C1:
NO
A:
NA
C2:
PF127742=AAA_6=PU(8.2=54.3)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
LOW PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AATAAGTATTCAGAAGCCATCAGGGG
R:
GGGGGTGATGACGAGCCG
Band lengths:
270-712
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains
  • Pre-implantation embryo development