Special

HsaINT0049444 @ hg19

Intron Retention

Gene
ENSG00000185842 | DNAH14
Description
dynein, axonemal, heavy chain 14 [Source:HGNC Symbol;Acc:2945]
Coordinates
chr1:225266909-225268450:+
Coord C1 exon
chr1:225266909-225267250
Coord A exon
chr1:225267251-225268080
Coord C2 exon
chr1:225268081-225268450
Length
830 bp
Sequences
Splice sites
5' ss Seq
AAGGTAAGT
5' ss Score
11
3' ss Seq
GTCCTACTCTTATTTTTTAGATA
3' ss Score
10.42
Exon sequences
Seq C1 exon
GTTGTGGAATCATCATTGCAGCAGCTGGAATGTGATCCCACTGAAATAGAAGAATTTCTGGAGCATTTTATTTTTTTGAATGCAATTTCCTCAAAAATATCTAAATTAGAAAAAGAGTTCTTAACAATGTCTCAGCTATATTCTGTTGCAAAGCATCACCAGATCCATATTTCAGAAGAGCAAATTGCCATATTCCAAGTTCTTCTTCTTAAGTTTAGTCAACTAAAATCATCTATGAAGTTAAGTAAAATAAATAAAGACACTGCTATAACTAAATTCAGAGATAACTTGGAAGCATGTATCAGTGGTCTACATGTTGATGTTGGCAATTTAAAAGCCAAG
Seq A exon
GTAAGTTTTTAGGGTTTTTTTGGATTTTTTTTTTATTAAAAACTTGATCTTAGTCTCGTAAGTCCAGGCATTTGGGTATTTGCTTTCAGTGGAATTTTGGCTAAATAGTTTAATACAAGTATTCTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGAGGTTTCACCGTGTTAGCCAAGATGGTCTCGATCTCCTGACCTCGTGATCCACTCGCCTCAGCCCCCCAAAGTGCTGGCATTACAGGCTTGAGCCACCGTGACCGGCCAATACAAGTATTCTTCAACTGGAATTCACAGACAGAATTTTGGTGATTTGTGAACCTGAAAGGGAAGTAAAATTACATTTCTATTTTCACTAATTTCTAACTGGAACTTAGCATTTTCTCAACTATGAATGAATGTAGGCAACAAACAGCAGCATGGCTGGTGACTTTTACCATAGGCTTCAAGAGACTGCCAAATGGGCTCATGGCATAAAAGGGACTAAAACCCCCTGAAATCTTTCTGGGCCAATCTTTATCTTTGTCTGGGCCAAATGGTAATGATAGTTCCAGTTTCACTCACTTATCAGGTAAAAGCCTAGATTATATACTAAAATGCTTTCACTGCCAGTAAAACAGTACGTTCTAGACATACTGATTTCTCTTAGAAAGTCCTACTCTTATTTTTTAG
Seq C2 exon
ATAAGAACTCCTCTTCTGTTATGTGCTGGTACTCAAGTGTCAACAGCAATGGAAATGATCCAGACTCTCTCAGGGGAAGCTGCAAGTTTAACTAACAAAGCTAAAGCATATTCACATTATCAGGATTGTTTCAGTGATTCTCAATCTCATATGCATTCTGTTAATGTGGAAGAAATTACACAGATTGTGCTTTCAGAGATCTCTGACATTGAAGGTGACTTGACTTTGAGGAAAAAACTATGGGAAGCACAAGAGGAGTGGAAGCGAGCCTCTTGGGAATGGAGGAATAGTTCTCTTCAAAGTATTGATGTAGAATCAGTACAGAGAAATGTTTCAAAACTGATGCACATAATCTCGGTACTAGAAAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000185842-DNAH14:NM_001373:18
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:
PF083938=DHC_N2=PU(90.8=47.6),PF083938=DHC_N2=PU(3.7=1.6)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA
Associated events
Conservation
Rat
(rn6)
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:
TTGCAGCAGCTGGAATGTGAT
R:
ACCAGCACATAACAGAAGAGGA
Band lengths:
357-1187
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Genotype-Tissue Expression Project (GTEx)
  • Autistic and control brains
  • Pre-implantation embryo development