Special

HsaINT0036280 @ hg38

Intron Retention

Gene
ENSG00000172243 | CLEC7A
Description
C-type lectin domain family 7 member A [Source:HGNC Symbol;Acc:HGNC:14558]
Coordinates
chr12:10123245-10125448:-
Coord C1 exon
chr12:10125297-10125448
Coord A exon
chr12:10123364-10125296
Coord C2 exon
chr12:10123245-10123363
Length
1933 bp
Sequences
Splice sites
5' ss Seq
TTGGTAAGT
5' ss Score
10.47
3' ss Seq
TTGTATATGTTTCATTACAGGGA
3' ss Score
8.8
Exon sequences
Seq C1 exon
GGGTTCTTTCCAGCCCTTGTCCTCCTAATTGGATTATATATGAGAAGAGCTGTTATCTATTCAGCATGTCACTAAATTCCTGGGATGGAAGTAAAAGACAATGCTGGCAACTGGGCTCTAATCTCCTAAAGATAGACAGCTCAAATGAATTG
Seq A exon
GTAAGTGTAGACTTCTGTTATGATTATCTGTGGTGTGTATCCTGAAGGAAGATAGAGGGAGATTCCAGGTAATGACAATTTTTCCTAAAATGAAGTCTTTTTTTTTTTTTTTTTTTGAGGCAGAGTCTCACTCTGTTGCCCAAGCTAGAGTGCAGTGAAGCCGCGACATCCCAGGCTCAAGTGATCCTCCCACCTCAGCTTCCTGAGTAGGTAGGACTACAGGGTGCACCACCACACTCGTCTAATGTTTTTTTGTATTTTTCATAGAGACGAGGTTTCTCCATATCATCTGGGCTGGTCTCAAAATCCTGGGCACAAGCGATCTGCCTACCTCGATCTCCCAGTGTTGGGATTACAGGTGTAAGCCACCATACTTGGCCAAAATTCATTTTTAATATCTCTATAATTATAATCATAGCATGCCTTAAGCACATAAAGTGCATAGTATATGCTTTTATTTTTAACTAATTTAAAAAACTGTGTTTCGCCTTAAAACAAATCCTTTCAAACATACTCCATGTATGCATGACTACAATAATCAGGACACTACCCATTTTTGTGAGTTTGTATTTCAATTTTTAAATATGGTGGAAGTAAAGTAGAAAATTCTTCTCCTTGTCATCATAATTATCAAGAAAAATGGCAACAATGATAATATATGTTTAGAAATTATTTACTCTTTGCAAGATACTGGGAAAGGCAAAGAGGGTTAAAACATAACCCTGCTATCACAGGACACATATAATCTTTTAAGTAAAAAAAAAGCAACTCAGCAGCTATTAAAAGTTAAATATCTGGCATTAGCAATAAATTCTATAGGAGTTTAAAGAGATCCCCGTGTTCCTAAGAAGTTTTCAGAAAAAGTGGCACTTATAACACATCATGAATGAAGGGTAGAGCTTCAATGAGGTAAGATAAGGGGTTAATAGGAAAAATTCTATGTTATAAATCTAAACCAGTCTATAACTTCTACACCTACTTTCACTATTCTTATTTTGTTTTTGTTTCTGTAATGTCTTACCCAGTAGTAATAATTTATATTAAAGTTAATGGAACTAGATATATGGCAAAGAAAGAGTACTGGATTACAAGTCTATCTGACTTTTAGGCCAGCCTATAATTGAAAATAAATTGTTATAGATTTGTAAACAATTCAGATATCTTCACTGAACCTCAGATTACATATTCATAAAATATACAGTTGGACTAAATTATTTTTAAGTTGTTACCTAACTCTGAGAAGTACTTCTTAACGAAAGTAGCGTCAATTTATTTCTTCAATTGGAGGAGAAGACAATGGCTAATCATCCATGAAAACTGCCTAGGGGGACTGTCATCTGGGATTTTGTCAGATAGGTTGAATGGAGGCAGTACAGTCCTCACATTACAAATCTATTCTTTTGGAAAATTAAATGATAATTACTTTAAATAAATAAGATAGGCCTTTTGAGACATTCAATGACATTCAAAAATTGGCACTTCTCTCTAGGTTGATGTCAGGTTAGGCATGCATTCTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACCACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCTACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTTGCATTCTTTACCAAAGTGATTCAATCAGTTGTCTTTTTCTCAGCGTCCATGATAATAGTTTCTTTCTCTCTCTCTCTCTCTCTTTATTATATATTTGTATATGTTTCATTACAG
Seq C2 exon
GGATTTATAGTAAAACAAGTGTCTTCCCAACCTGATAATTCATTTTGGATAGGCCTTTCTCGGCCCCAGACTGAGGTACCATGGCTCTGGGAGGATGGATCAACATTCTCTTCTAACTT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000172243:ENST00000353231:3
Average complexity
IR
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:
PF0033515=Tetraspannin=FE(35.5=100),PF083915=Ly49=PD(6.2=9.8),PF0005916=Lectin_C=PU(25.2=52.9)
A:
NA
C2:
PF0033515=Tetraspannin=PD(2.1=7.5),PF0005916=Lectin_C=FE(36.4=100)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
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:
GGGTTCTTTCCAGCCCTTGTC
R:
AGTTAGAAGAGAATGTTGATCCATCC
Band lengths:
270-2203
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