| Type | Description |
|---|---|
| Definition | FERM domain containing 7 |
| Date | Results | Publications |
|---|---|---|
| 2020-10-10 12:59:00 | Next-generation sequencing identifies a novel frameshift variant in FRMD7 in a Chinese family with idiopathic infantile nystagmus. | 31495972 |
| 2020-10-03 12:58:00 | FRMD7 Mutations Disrupt the Interaction with GABRA2 and May Result in Infantile Nystagmus Syndrome. | 32446246 |
| 2020-03-14 12:12:00 | By compiling all the published cases we discuss the variable penetrance among females due to different types of mutation and to X-inactivation. | 30942644 |
| 2019-08-24 12:34:00 | A novel mutation of the FRMD7 gene occurred in a Chinese family with Infantile nystagmus , thus expanding the spectrum of FRMD7 mutations causing Infantile nystagmus , and further confirming that the mutations of FRMD7 are the underlying molecular cause of Infantile nystagmus. | 30616528 |
| 2019-08-24 12:09:00 | Results identified a novel mutation, c.498-3C > T, in FRMD7 which explains why X-Linked recessive inheritance of congenital nystagmus (CN) was found in a subset of patients with both CN and congenital cataract. | 30890130 |
| Type | IDs |
|---|---|
| Synonymous | NYS, NYS1, XIPAN |
| Gene |
UniProtKB-ID:
FRMD7_HUMAN
UniprotKB:
Q6ZUT3
UniParc:
UPI00001C0AED,
UPI000195FEF0
EMBL:
AK125336,
AL049792,
FJ717411,
BC114371,
AL109749
Ensembl:
ENSG00000165694
KO:
hsa:90167
|
| Nucleutide sequences |
EMBL-CDS:
AAI14372.1,
BAC86135.1,
ACN56448.1
Ensembl_TRS:
ENST00000464296,
ENST00000298542
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000298542,
ENSP00000417996
RefSeq:
XP_016885436.1,
XP_016885438.1,
XP_016885437.1,
NP_919253.1,
NP_001293122.1
|
| Others |
UniRef100:
UniRef100_Q6ZUT3
UniRef90:
UniRef90_Q6ZUT3
UniRef50:
UniRef50_Q6ZUT3
UniGene:
Hs.170776
CCDS:
CCDS35397.1,
CCDS78504.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
{{protein.nucleotideVersion}}
Ensembl: {{protein.nucleotideEnsembl}} |
{{protein.proteinVersion}}
Ensembl: {{protein.proteinEnsembl}} |
{{uniprot}} , |
Definition: {{{protein.definition}}}Transcript Veriant:{{protein.transcriptVeriant}} Status: {{protein.status}} |
||||
| Location | {{protein.contigId}} ( {{protein.positionStart}}..{{protein.positionEnd}} , {{protein.orientation}} ) | |||||||
| Conserved domain | Region: {{conservedDomain.region == '' || conservedDomain.region == null ? "-": conservedDomain.region}} GFID: {{conservedDomain.gfid == '' || conservedDomain.gfid == null ? "-": conservedDomain.gfid}} Family: {{conservedDomain.family == '' || conservedDomain.family == null ? "-": conservedDomain.family}} CDD: {{conservedDomain.cdd}} - |
{{conservedDomain.comments == '' || conservedDomain.comments == null ? "-" : conservedDomain.comments }} |
Region: {{conservedDomain.region == '' || conservedDomain.region == null ? "-": conservedDomain.region}} GFID: {{conservedDomain.gfid == '' || conservedDomain.gfid == null ? "-": conservedDomain.gfid}} Family: {{conservedDomain.family == '' || conservedDomain.family == null ? "-": conservedDomain.family}} CDD: {{conservedDomain.cdd}} - |
{{conservedDomain.comments == '' || conservedDomain.comments == null ? "-" : conservedDomain.comments }} |
||||
暂无数据
| 排名 | 科研单位 | 文献 |
|---|---|---|
| {{affIndex+1}} |
{{aff.value}} |
{{aff.size}} |
目前还没有研究热点单位
| 排名 | 研究人员 | 文献 |
|---|---|---|
| {{authorIndex+1}} |
{{author.value}} |
{{author.size}} |
目前还没有研究热点人员