General information of RDP00458
Gene Symbol:NIPA1
RefSeq ID:NM_001142275
Repeat coordinate:chr15:22786678-22786702 (+)
Repeat size:8
Repeat region:intron
Repeat unit:CGG
Repeat conservation:PhastCons_score: 0.780; 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:
PhenotypeOMIM_idLocation
Spastic paraplegia 6, autosomal dominant, 600363 (3)60814515q11.2
Mapping repeat track to DisGeNET:
Disease_nameRefSeqScoreNofPmidsNofSnpsSource
SPASTIC PARAPLEGIA 6, AUTOSOMAL DOMINANT (disorder)NM_0011422750.7332CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
Mapping repeat track to ClinVar:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
15
22786677
193495
AGCG
A
.
15
22786677
412532
AGCGGCG
A
.
15
22786677
241881
AGCGGCGGCG
A
.
15
22786697
218839
C
G
.
Mapping repeat track to ExAC:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
15
22786671
.
TGCGGCAGCGGCGGCGGCGGCGGCG
T
1927902.10
15
22786671
.
TGCGGCAGCGGCGGCGGCG
T
32189.76
15
22786671
.
TGCGGCAGCGGCG
T
14712.83
15
22786679
.
C
T
5383.34
15
22786682
.
C
A,T
3263.33
15
22786685
rs181507534
C
T
11156.52
15
22786686
.
G
A
10863.45
15
22786691
.
C
T
15069.02
15
22786694
.
C
T
15296.03
15
22786697
rs864309628
C
T
32498.26
15
22786700
.
C
T
72764.30
15
22786701
rs758882039
G
GGCC
11361.55
Mapping repeat track to gnomAD:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
15
22786671
.
TGCGGCAGCGGCGGCGGCG
T
21956.84
15
22786671
.
TGCGGCAGCGGCGGCG
T
7230.24
15
22786671
.
TGCGGCAGCGGCG
T
3935.60
15
22786681
.
G
A
6447.99
15
22786694
.
C
T
8109.04
Mapping repeat track to Kaviar:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
15
22786676
.
CAGC
C
.
15
22786677
rs531550505
AGCG
A
.
15
22786677
rs755160902
AGCGGCGGCG
A
.
15
22786677
rs781418106
AGCGGCGGCGGCGGCG
A
.
15
22786677
rs747339674
AGCGGCGGCGGCGGCGGCGGCG
A
.
15
22786682
.
CGGCGGCGGCGGCGGCGGCGGC
C,CGCCGCC,CGCCGCCGCCGCC,CGCCGCCGCCGCCGCCGCC,CGCCGCCGCCGCCGCCGCCGCCGCC
.
15
22786685
rs181507534
C
G
.
15
22786694
.
CGGCGGCGGC
C
.
15
22786700
.
CGGC
C
.
15
22786701
rs758882039
G
GGCC
.
15
22786702
.
G
GGCCGCC,GGCC
.