| General information of RDP00570 | |
|---|---|
| Gene Symbol: | MYT1L |
| RefSeq ID: | NM_001303052 |
| Repeat coordinate: | chr2:2236757-2236814 (-) |
| Repeat size: | 19 |
| Repeat region: | intron |
| Repeat unit: | GAA |
| Repeat conservation: | PhastCons_score: 0.008; 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 |
| Mental retardation, autosomal dominant 39, 616521 (3) | 613084 | 2p25.3 |
| Mapping repeat track to DisGeNET: | |||||
|---|---|---|---|---|---|
| Disease_name | RefSeq | Score | NofPmids | NofSnps | Source |
| MENTAL RETARDATION, AUTOSOMAL DOMINANT 39 | NM_001303052 | 0.61 | 2 | 8 | CTD_human;GENOMICS_ENGLAND |
| Mapping repeat track to gnomAD: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
2
2236757
rs760901038
TTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC
T,TTTCTTCTTCTTCTTCTTCTTCTTCTTC,TTTCTTCTTCTTCTTCTTCTTCTTC,TTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC,TTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC,TTTCTTCTTC
2053614.85
2
2236758
.
T
C
2000075.08
2
2236760
.
C
A
1973228.48
2
2236767
.
T
C
1371979.79
2
2236772
.
C
T
727235.43
2
2236774
.
TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC
T
676452.71
2
2236775
.
CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT
C
683566.05
2
2236777
.
TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC
T,TTTCTTC,TTTC
689193.02
2
2236778
.
CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTTT
C,CTT,CT,CTTT
709758.86
2
2236779
.
TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC
T
731501.59
2
2236780
.
TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC
T,TTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC,TTTC,TTTCTTC,TTTCTTCTTC
887062.50
2
2236781
rs868218977
CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTTT
CT,CTT,CTTT,TTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTTT,C
7311217.10
2
2236782
.
TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC
T
7181117.35
2
2236783
.
TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC
T,TTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC,TTTC,TTTCTTC,TTTCTTCTTC
7670858.19
2
2236784
rs150627539
CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTTTTT
TTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTTTTT,CTTT,CTTTT,CTTTTT,C
7823217.07
2
2236786
.
TCTTCTTCTTCTTCTTCTTCTTCTTCTTC
T
7758370.57
2
2236787
rs144994316
CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTTT
CT,TTTCTTCTTCTTCTTCTTCTTCTTCTTCTTTT,CTT,C
7744102.41
2
2236789
.
TCTTCTTCTTCTTCTTCTTCTTCTTC
T,TTTCTTCTTCTTCTTCTTC,TTTC
7726796.79
2
2236790
rs142114535
CTTCTTCTTCTTCTTCTTCTTCTTCTTTTT
TTTCTTCTTCTTCTTCTTCTTCTTCTTTTT,CTT,C
7752026.43
2
2236792
.
TCTTCTTCTTCTTCTTCTTCTTC
T,TTTC,TTTCTTC
7724471.09
2
2236793
rs139032259
CTTCTTCTTCTTCTTCTTCTTCTTT
TTTCTTCTTCTTCTTCTTCTTCTTT,C,CTCTTT
7726264.24
2
2236795
.
TCTTCTTCTTCTTCTTCTTC
T
7391870.97
2
2236796
.
CTT
TTT,C
7405193.05
2
2236797
.
T
C
7386806.82
2
2236798
.
TCTTCTTCTTCTTCTTC
T,TTTCTTC
7390778.94
2
2236799
.
CTTCTTCTTCTTCTTCTTT
TTTCTTCTTCTTCTTCTTT,CTT,CTCTTCTTCTTCTTT,C
7384711.82
2
2236800
.
TTCTTCTTCTTCTTC
T
7375764.23
2
2236801
.
TCTTCTTCTTCTTC
T,TTTC,TTTCTTCTTCTTC,TTTCTTCTTC
7401170.42
2
2236802
.
CTTCTTCTTCTTCTT
CT,TTTCTTCTTCTTCTT,CTTTTTTTTTTCTTCTTCTTCTT,C,CTTTTTTTTTTTCTTCTTCTTCTT
7405974.48
2
2236803
.
TTCTTCTTCTTC
T
7403441.63
2
2236804
rs746317819
TCTTCTTCTTC
T,TTTCTTCTTC,TTTC,TTTCTTC
7473008.43
2
2236805
.
CTTCTTCTTCTTT
TTTCTTCTTCTTT,CTT,CT,C
7463085.44
2
2236806
.
TTCTTCTTC
T
7432205.80
2
2236807
.
TCTTCTTC
T,TTTCTTC
7432785.92
2
2236808
.
CTTCTTCTTT
TTTCTTCTTT,C,CT,GTTCTTCTTT
7456204.82
2
2236809
.
TTCTTC
T
7403155.39
2
2236810
.
TCTTC
T,TTTC
7398743.25
2
2236811
.
CTTCTTT
TTTCTTT,C,CT
7423419.36
2
2236812
.
TTC
T
7296751.25
2
2236813
.
TC
T
7292900.49
2
2236814
rs74164560
CTTT
CT,TTTT,CTTTT,C,CTTCTTTT
7354322.75
| Mapping repeat track to Kaviar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
2
2236757
.
TTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC
T
.
2
2236757
.
TTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC
T
.
2
2236757
rs760901038
TTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC
T
.
2
2236758
.
TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT
TTCTTCTTCTTCTTCTTCTTCTTC
.
2
2236758
.
TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTT
TTCTTCTTCTTCTTCTTCTTC,TTCTTCTTCTTCTTCTTCTTCTTC,TTCTTCTTCTTCTTCTTCTTCTTCT,TTCTTCTTCTTCTTCTTCTTCTTCTTT,TTCTTCTTCTTCTTCTTCTTCTTT
.
2
2236778
.
CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTT
C
.
2
2236778
.
CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTT
C,CTTC
.
2
2236780
.
TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTT
TC
.
2
2236781
.
C
T
.
2
2236781
.
CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT
C
.
2
2236781
.
CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTT
C,CTT,CTTC,T
.
2
2236781
.
CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT
C
.
2
2236781
.
CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT
C
.
2
2236781
rs776816383
CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTT
C,CT,CTT,CTTT
.
2
2236781
.
CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTTT
C
.
2
2236784
rs150627539
C
T
.
2
2236784
.
CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTT
C
.
2
2236787
rs144994316
C
T
.
2
2236790
rs142114535
C
T
.
2
2236793
rs139032259
C
T
.
2
2236796
.
C
T
.
2
2236799
.
C
T
.
2
2236802
.
C
T
.
2
2236804
rs746294418
TCTTCTTC
T
.
2
2236804
rs746317819
TCTTCTTCTTC
T
.
2
2236805
.
C
T
.
2
2236808
.
C
T
.
2
2236809
.
TTCTTCTTT
TTCTTCTTC
.
2
2236811
.
C
T
.
2
2236812
.
TTCT
TTC
.
2
2236812
.
TTCTTT
TTC,TTCTT,TTCTTC,TTCTTCT
.
2
2236814
.
C
T
.
2
2236814
.
CTTT
C
.
2
2236814
rs74164560
C
CT
.
2
2236814
.
CT
C
.