Special

HsaINT0084341 @ hg19

Intron Retention

Gene
Description
potassium voltage-gated channel, subfamily H (eag-related), member 4 [Source:HGNC Symbol;Acc:6253]
Coordinates
chr17:40328072-40330245:-
Coord C1 exon
chr17:40330118-40330245
Coord A exon
chr17:40328316-40330117
Coord C2 exon
chr17:40328072-40328315
Length
1802 bp
Sequences
Splice sites
5' ss Seq
AATGTGAGT
5' ss Score
7.8
3' ss Seq
CGCCACCCCTCTCCCCTTAGAAC
3' ss Score
9.98
Exon sequences
Seq C1 exon
AAAACTCCCTTGGTAGAAGGGGAGCCACCTGGAAATTTCGGTCTGCCAGAAGACGGAGCCGTACTGTCCTACACCGACTGACCGGCCACTTTGGCCGCCGGGGCCAGGGAGGCATGAAGGCCAATAAT
Seq A exon
GTGAGTCCCACCCCCAACCCAACATCTCCCAAGTCCTCCAGCCTTGATTCTGAGGCACCCCTGCCACTGTCTCCCCACTTCCCTGTCTGTCTGGTGTCCCTCCTTGGCTTGCTCCTCTGCCCACCCATTTCCCATATACTACTCTATATGGTATATGCTCCATCCTATATCCTCCCCCAACATCCTTCTATCCCTATCTCCCTCATTCCCTTAGGTGATTGACATTACTTTGCTCCGATGATGTCACATTGCTCTAGCAGCAATGACCTCACCTGCCCGGGGGTGATAGGGTTATACCATGGGTGGTGAAATTGCAAGCTGCTATAGTTCTAGGGAGAAAGCCCTCATTGCAGGCCTGGCATCTAGACCTGTGTACCACCTCCTAGGATCCTGACCAAGCCAGGGGATTGAGTCCCCAACCCTCTGTTAGGGATACAGGGAATGCGGTGGGCTATGCCAGCCTCTGCTCCCTGCTGGGATATACCCAGCCCCCACTGGGCCCCCAGAACCCAAGAGGAACTTAAGGGAGAAGTTAGGTACCCCTCAAGCTAGGGCATGTGCCGATTTGTCATAGTCTTCTTCTCAAGTAGGATGAGTGTTGGGCCAGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATTGCTTGAGGCCAGGAGTTCTAGACCAGCCTGGGCAACATAGTGAGACCCCTTTTCTAAAAAAAAAAAAAAAAATTAAAAATTATCTGGAGGCCAGGCGCAGTGGCTGATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCACCTGAGGTCGGGAGTTCAAGACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAGTTAGATGGGTATGGTGGCACATGCCTGTAATCCCAGCTACTTGGAAGGCTGAAGCAGAAGAATCACTTGAACCCGGGAGGTGGAGGTTGCGGTGAGCCGAGATTGCACCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCTCAAAAAAAAAAAATTATCTGGCTATGGTGGTGCATGCCTGTGGTCCCAGCTACTCTGGAGCCTGAGGCAGGAGGATAGCTTGAGCCCAGGAGTTTAAGGCTGCAGTGAGTTATGATGGTGCCACTGCACTCCAGCCTGGGCACAGAGTGAGACTGTCTCTAAACTTAAAAATGTAAAAATCAAGTTGGGTGAATGTCAAGCCTCATAAATACCCTTGACAAGACATGATTGGTTCAAACAGGGGCCTGGGGCCGGGCACAGTGGCTCACACCTGTAATCCTAGCACTTTGGGAGGCTGAGGTGGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAATACAAAAATTAGTCAGGTGTGGTGGCATGTTCCCGTAGTCCCAGCTGTTTGGGAGGCTGTGGCAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCAAGATCATGCCCTTGCACTCCAGCCTGGGTAAAGAGCAAGACCCTATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGGAGGAGGGCCTGGGAAATACTTGGCAGGAGAAGAAAATGTCAGGTGTCAGCCTCTGCGCCCCTCTCCTGGCCTTCTATCTCCTTTCATTCATGGTCAAAAGTGCCCTTGCAGTGCCCACCTGCTAACTTTCCCCATCCCCTGCCTTTCCCACCCCCCATCTTGGCTCCTCTTTCCCTCAAGTGTCCCCAACCGCCACCCCTCTCCCCTTAG
Seq C2 exon
AACGTGTTTGAGCCAAAGCCATCAGTGCCCGAGTACAAGGTGGCCTCCGTGGGGGGGTCTCGCTGCCTCCTCCTCCACTACAGCGTCTCCAAGGCCATCTGGGACGGCCTTATCCTCCTTGCCACCTTCTACGTTGCGGTCACCGTCCCCTACAATGTCTGTTTCTCGGGTGACGATGACACCCCCATCACTTCGCGACACACCCTTGTCAGCGACATCGCCGTGGAAATGCTCTTCATCCTAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000089558-KCNH4:NM_012285:4
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.093 A=NA C2=0.012
Domain overlap (PFAM):

C1:
NO
A:
NA
C2:
PF0052026=Ion_trans=PU(5.7=14.6)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Rat
(rn6)
No conservation detected
Chicken
(galGal4)
ALTERNATIVE
Chicken
(galGal3)
ALTERNATIVE
Zebrafish
(danRer10)
ALTERNATIVE
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GCCACCTGGAAATTTCGGTCT
R:
GAAGAGCATTTCCACGGCGAT
Band lengths:
342-2144
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