| General information of RDP00059 | |
|---|---|
| Gene Symbol: | NEXN |
| RefSeq ID: | NM_001172309 |
| Repeat coordinate: | chr1:77888598-77888616 (+) |
| Repeat size: | 6 |
| Repeat region: | 5' UTR |
| Repeat unit: | CGG |
| Repeat conservation: | PhastCons_score: 0.952; Repeat Conservation from UCSC Genome Browser |
| Amino acid sequence: | - |
| Gene expression and GO annotation: | BioGPS |
| Protein expression: | Human Protein Altas |
| Gene conservation: | Gene Conservation from UCSC Genome Browser |
| Mapping repeat track to OMIM: | ||
|---|---|---|
| Phenotype | OMIM_id | Location |
| Cardiomyopathy, hypertrophic, 20, 613876 (3) | 613121 | 1p31.1 |
| Mapping repeat track to DisGeNET: | |||||
|---|---|---|---|---|---|
| Disease_name | RefSeq | Score | NofPmids | NofSnps | Source |
| CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 20 | NM_001172309 | 0.90 | 3 | 2 | CLINGEN;CTD_human;GENOMICS_ENGLAND;UNIPROT |
| Mapping repeat track to 1000 Genomes: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
1
77888612
.
G
GGCGGCA
100
| Mapping repeat track to gnomAD: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
1
77888598
rs528439602
ACGG
A,ACGGCGG,ACGGCGGCGG
4289.95
1
77888606
.
G
A
249.46
1
77888608
.
C
T
172.46
1
77888612
rs546905969
GGCGGCA
GGCGGCAGCGGCA,G
1074.41
1
77888614
.
C
G,T
2733.98
| Mapping repeat track to Kaviar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
1
77888610
.
GCG
ACT
.
1
77888610
.
GCGGCGGCA
ACT
.
1
77888611
.
C
CG
.
1
77888612
rs546905969
G
GGCGGCA
.
1
77888613
.
GC
CG
.
1
77888613
.
G
GG
.
1
77888614
.
C
CG
.
1
77888614
.
C
CG
.