Imported Disease Annotations - ClinVarObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | FHIP1A | Human | High Myopia | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: High myopia | ClinVar | | |
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Imported Disease Annotations - ClinVarObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | FHIP1A | Human | High Myopia | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: High myopia | ClinVar | | |
# | Reference Title | Reference Citation |
1. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
2. | Transcriptomic characteristics of bronchoalveolar lavage fluid and peripheral blood mononuclear cells in COVID-19 patients. | Xiong Y, etal., Emerg Microbes Infect. 2020 Dec;9(1):761-770. doi: 10.1080/22221751.2020.1747363. |
PMID:8889549 | PMID:10737800 | PMID:12477932 | PMID:16344560 | PMID:20379614 | PMID:26186194 | PMID:28514442 | PMID:28718761 | PMID:29395067 | PMID:29467281 | PMID:29507755 | PMID:29930801 |
PMID:30420729 | PMID:31527615 | PMID:32073997 | PMID:33961781 | PMID:34079125 | PMID:34882091 | PMID:35044719 | PMID:37689310 | PMID:37827155 |
FHIP1A (Homo sapiens - human) |
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Fhip1a (Mus musculus - house mouse) |
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Fhip1a (Rattus norvegicus - Norway rat) |
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Fhip1a (Chinchilla lanigera - long-tailed chinchilla) |
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FHIP1A (Pan paniscus - bonobo/pygmy chimpanzee) |
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FHIP1A (Canis lupus familiaris - dog) |
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Fhip1a (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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FHIP1A (Sus scrofa - pig) |
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FHIP1A (Chlorocebus sabaeus - green monkey) |
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Fhip1a (Heterocephalus glaber - naked mole-rat) |
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Variants in FHIP1A
48 total Variants |
Name | Type | Condition(s) | Position(s) | Clinical significance |
GRCh38/hg38 4q26-35.2(chr4:118065569-190042639)x3 | copy number gain | See cases [RCV000051785] | Chr4:118065569..190042639 [GRCh38] Chr4:118986724..190828225 [GRCh37] Chr4:119206172..191200788 [NCBI36] Chr4:4q26-35.2 |
pathogenic |
GRCh38/hg38 4q27-35.2(chr4:121518223-190062270)x3 | copy number gain | See cases [RCV000051786] | Chr4:121518223..190062270 [GRCh38] Chr4:122439378..190828225 [GRCh37] Chr4:122658828..191220419 [NCBI36] Chr4:4q27-35.2 |
pathogenic |
GRCh38/hg38 4q31.21-31.3(chr4:140876253-152186578)x3 | copy number gain | See cases [RCV000051787] | Chr4:140876253..152186578 [GRCh38] Chr4:141797407..153107730 [GRCh37] Chr4:142016857..153327180 [NCBI36] Chr4:4q31.21-31.3 |
pathogenic |
GRCh38/hg38 4q31.22-34.1(chr4:147317283-173675559)x3 | copy number gain | See cases [RCV000051788] | Chr4:147317283..173675559 [GRCh38] Chr4:148238435..174596710 [GRCh37] Chr4:148457885..174833285 [NCBI36] Chr4:4q31.22-34.1 |
pathogenic |
GRCh38/hg38 4q31.23-35.2(chr4:148356485-189548183)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051789]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051789]|See cases [RCV000051789] | Chr4:148356485..189548183 [GRCh38] Chr4:149277637..190469337 [GRCh37] Chr4:149497087..190706331 [NCBI36] Chr4:4q31.23-35.2 |
pathogenic |
GRCh38/hg38 4q22.2-32.3(chr4:92913386-165299707)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051775]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051775]|See cases [RCV000051775] | Chr4:92913386..165299707 [GRCh38] Chr4:93834537..166220859 [GRCh37] Chr4:94053560..166440309 [NCBI36] Chr4:4q22.2-32.3 |
pathogenic |
GRCh38/hg38 4q31.21-35.2(chr4:145042668-189975519)x3 | copy number gain | See cases [RCV000135845] | Chr4:145042668..189975519 [GRCh38] Chr4:145963820..190828225 [GRCh37] Chr4:146183270..191133668 [NCBI36] Chr4:4q31.21-35.2 |
pathogenic |
GRCh38/hg38 4q31.3-32.1(chr4:151299810-160314050)x1 | copy number loss | See cases [RCV000135696] | Chr4:151299810..160314050 [GRCh38] Chr4:152220962..161235202 [GRCh37] Chr4:152440412..161454652 [NCBI36] Chr4:4q31.3-32.1 |
likely pathogenic |
GRCh38/hg38 4q31.1-35.2(chr4:138510532-189963195)x3 | copy number gain | See cases [RCV000136810] | Chr4:138510532..189963195 [GRCh38] Chr4:139431686..190828225 [GRCh37] Chr4:139651136..191121344 [NCBI36] Chr4:4q31.1-35.2 |
pathogenic |
GRCh38/hg38 4q28.3-35.2(chr4:131985253-190095391)x3 | copy number gain | See cases [RCV000137721] | Chr4:131985253..190095391 [GRCh38] Chr4:132906408..190828225 [GRCh37] Chr4:133125858..191250527 [NCBI36] Chr4:4q28.3-35.2 |
pathogenic|likely benign |
GRCh38/hg38 4q28.1-35.1(chr4:125432943-185761887)x3 | copy number gain | See cases [RCV000138578] | Chr4:125432943..185761887 [GRCh38] Chr4:126354098..186683041 [GRCh37] Chr4:126573548..186920035 [NCBI36] Chr4:4q28.1-35.1 |
pathogenic|likely benign |
GRCh38/hg38 4q31.3(chr4:151144531-151643648)x1 | copy number loss | See cases [RCV000141752] | Chr4:151144531..151643648 [GRCh38] Chr4:152065683..152564800 [GRCh37] Chr4:152285133..152784250 [NCBI36] Chr4:4q31.3 |
likely benign|uncertain significance |
GRCh38/hg38 4q28.3-35.2(chr4:134935616-190036318)x3 | copy number gain | See cases [RCV000143559] | Chr4:134935616..190036318 [GRCh38] Chr4:135856771..190957473 [GRCh37] Chr4:136076221..191194467 [NCBI36] Chr4:4q28.3-35.2 |
pathogenic |
GRCh37/hg19 4q28.3-35.1(chr4:136912336-184253252)x3 | copy number gain | See cases [RCV000240245] | Chr4:136912336..184253252 [GRCh37] Chr4:4q28.3-35.1 |
pathogenic |
GRCh37/hg19 4q26-35.2(chr4:119437495-190904301)x3 | copy number gain | See cases [RCV000240392] | Chr4:119437495..190904301 [GRCh37] Chr4:4q26-35.2 |
pathogenic |
NM_001109977.3(FHIP1A):c.1844A>G (p.Lys615Arg) | single nucleotide variant | not specified [RCV004291577] | Chr4:151649885 [GRCh38] Chr4:152571037 [GRCh37] Chr4:4q31.3 |
uncertain significance |
GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3 | copy number gain | See cases [RCV000446653] | Chr4:12440..190904441 [GRCh37] Chr4:4p16.3-q35.2 |
pathogenic |
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473) | copy number gain | See cases [RCV000510453] | Chr4:68346..190957473 [GRCh37] Chr4:4p16.3-q35.2 |
pathogenic |
GRCh37/hg19 4q25-35.2(chr4:109199664-189752726)x3 | copy number gain | See cases [RCV000511945] | Chr4:109199664..189752726 [GRCh37] Chr4:4q25-35.2 |
pathogenic |
GRCh37/hg19 4q22.1-35.2(chr4:93071152-190957473)x3 | copy number gain | See cases [RCV000510970] | Chr4:93071152..190957473 [GRCh37] Chr4:4q22.1-35.2 |
pathogenic |
NM_001109977.3(FHIP1A):c.2980C>T (p.Pro994Ser) | single nucleotide variant | not specified [RCV004314008] | Chr4:151662611 [GRCh38] Chr4:152583763 [GRCh37] Chr4:4q31.3 |
uncertain significance |
NM_001109977.3(FHIP1A):c.644C>T (p.Ala215Val) | single nucleotide variant | not specified [RCV004309550] | Chr4:151577988 [GRCh38] Chr4:152499140 [GRCh37] Chr4:4q31.3 |
uncertain significance |
NM_001109977.3(FHIP1A):c.757C>G (p.Leu253Val) | single nucleotide variant | not specified [RCV004301394] | Chr4:151586665 [GRCh38] Chr4:152507817 [GRCh37] Chr4:4q31.3 |
uncertain significance |
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3 | copy number gain | See cases [RCV000512241] | Chr4:68346..190957473 [GRCh37] Chr4:4p16.3-q35.2 |
pathogenic |
GRCh37/hg19 4q31.3(chr4:151948130-152446550)x3 | copy number gain | not provided [RCV000682469] | Chr4:151948130..152446550 [GRCh37] Chr4:4q31.3 |
likely benign |
GRCh37/hg19 4q31.3(chr4:152404272-152497264)x1 | copy number loss | not provided [RCV000682470] | Chr4:152404272..152497264 [GRCh37] Chr4:4q31.3 |
likely benign |
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190915650)x3 | copy number gain | not provided [RCV000743155] | Chr4:49450..190915650 [GRCh37] Chr4:4p16.3-q35.2 |
pathogenic |
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190963766)x3 | copy number gain | not provided [RCV000743156] | Chr4:49450..190963766 [GRCh37] Chr4:4p16.3-q35.2 |
pathogenic |
GRCh37/hg19 4p16.3-q35.2(chr4:11525-191028879)x3 | copy number gain | not provided [RCV000743147] | Chr4:11525..191028879 [GRCh37] Chr4:4p16.3-q35.2 |
pathogenic |
NM_001109977.3(FHIP1A):c.2230G>A (p.Ala744Thr) | single nucleotide variant | not specified [RCV004288517] | Chr4:151650271 [GRCh38] Chr4:152571423 [GRCh37] Chr4:4q31.3 |
uncertain significance |
NM_001109977.3(FHIP1A):c.2694C>T (p.Asn898=) | single nucleotide variant | not provided [RCV000949278] | Chr4:151656374 [GRCh38] Chr4:152577526 [GRCh37] Chr4:4q31.3 |
benign |
GRCh37/hg19 4q31.3(chr4:152404272-152599721)x1 | copy number loss | not provided [RCV001005605] | Chr4:152404272..152599721 [GRCh37] Chr4:4q31.3 |
uncertain significance |
NM_001109977.3(FHIP1A):c.2417A>G (p.Asp806Gly) | single nucleotide variant | High myopia [RCV000785691] | Chr4:151650458 [GRCh38] Chr4:152571610 [GRCh37] Chr4:4q31.3 |
uncertain significance |
GRCh37/hg19 4q28.1-35.1(chr4:124873497-185278662)x3 | copy number gain | not provided [RCV000849686] | Chr4:124873497..185278662 [GRCh37] Chr4:4q28.1-35.1 |
pathogenic |
GRCh37/hg19 4q31.3-35.2(chr4:151174061-190957473)x3 | copy number gain | not provided [RCV000849098] | Chr4:151174061..190957473 [GRCh37] Chr4:4q31.3-35.2 |
pathogenic |
NM_001109977.3(FHIP1A):c.1567G>A (p.Ala523Thr) | single nucleotide variant | not specified [RCV004298915] | Chr4:151649608 [GRCh38] Chr4:152570760 [GRCh37] Chr4:4q31.3 |
uncertain significance |
NM_001109977.3(FHIP1A):c.2438C>T (p.Ser813Phe) | single nucleotide variant | not specified [RCV004319319] | Chr4:151650479 [GRCh38] Chr4:152571631 [GRCh37] Chr4:4q31.3 |
uncertain significance |
GRCh37/hg19 4q28.3-32.3(chr4:131303317-168722402)x3 | copy number gain | not provided [RCV001537926] | Chr4:131303317..168722402 [GRCh37] Chr4:4q28.3-32.3 |
pathogenic |
NM_001109977.3(FHIP1A):c.2057G>C (p.Ser686Thr) | single nucleotide variant | not specified [RCV004326958] | Chr4:151650098 [GRCh38] Chr4:152571250 [GRCh37] Chr4:4q31.3 |
uncertain significance |
NM_001109977.3(FHIP1A):c.3050T>A (p.Leu1017Gln) | single nucleotide variant | not specified [RCV004332635] | Chr4:151662681 [GRCh38] Chr4:152583833 [GRCh37] Chr4:4q31.3 |
uncertain significance |
NM_001109977.3(FHIP1A):c.1021C>T (p.Leu341Phe) | single nucleotide variant | not specified [RCV004328856] | Chr4:151629744 [GRCh38] Chr4:152550896 [GRCh37] Chr4:4q31.3 |
uncertain significance |
NM_001109977.3(FHIP1A):c.3011T>C (p.Met1004Thr) | single nucleotide variant | not specified [RCV004323658] | Chr4:151662642 [GRCh38] Chr4:152583794 [GRCh37] Chr4:4q31.3 |
uncertain significance |
NM_001109977.3(FHIP1A):c.1619C>T (p.Thr540Met) | single nucleotide variant | not specified [RCV004295474] | Chr4:151649660 [GRCh38] Chr4:152570812 [GRCh37] Chr4:4q31.3 |
uncertain significance |
NM_001109977.3(FHIP1A):c.260C>T (p.Pro87Leu) | single nucleotide variant | not specified [RCV004260360] | Chr4:151577604 [GRCh38] Chr4:152498756 [GRCh37] Chr4:4q31.3 |
uncertain significance |
NM_001109977.3(FHIP1A):c.2060C>T (p.Thr687Ile) | single nucleotide variant | not specified [RCV004276376] | Chr4:151650101 [GRCh38] Chr4:152571253 [GRCh37] Chr4:4q31.3 |
uncertain significance |
NM_001109977.3(FHIP1A):c.106G>A (p.Val36Ile) | single nucleotide variant | not specified [RCV004249888] | Chr4:151577450 [GRCh38] Chr4:152498602 [GRCh37] Chr4:4q31.3 |
uncertain significance |
NM_001109977.3(FHIP1A):c.1784C>T (p.Ser595Phe) | single nucleotide variant | not specified [RCV004270564] | Chr4:151649825 [GRCh38] Chr4:152570977 [GRCh37] Chr4:4q31.3 |
uncertain significance |
NM_001109977.3(FHIP1A):c.1031G>A (p.Arg344His) | single nucleotide variant | not specified [RCV004253772] | Chr4:151629754 [GRCh38] Chr4:152550906 [GRCh37] Chr4:4q31.3 |
uncertain significance |
NM_001109977.3(FHIP1A):c.714G>C (p.Glu238Asp) | single nucleotide variant | not specified [RCV004252303] | Chr4:151578058 [GRCh38] Chr4:152499210 [GRCh37] Chr4:4q31.3 |
uncertain significance |
NM_001109977.3(FHIP1A):c.1121C>T (p.Thr374Met) | single nucleotide variant | not specified [RCV004278827] | Chr4:151629844 [GRCh38] Chr4:152550996 [GRCh37] Chr4:4q31.3 |
uncertain significance |
NM_001109977.3(FHIP1A):c.2139G>C (p.Lys713Asn) | single nucleotide variant | not specified [RCV004266713] | Chr4:151650180 [GRCh38] Chr4:152571332 [GRCh37] Chr4:4q31.3 |
uncertain significance |
NM_001109977.3(FHIP1A):c.844C>A (p.Leu282Ile) | single nucleotide variant | not specified [RCV004255545] | Chr4:151586752 [GRCh38] Chr4:152507904 [GRCh37] Chr4:4q31.3 |
uncertain significance |
NM_001109977.3(FHIP1A):c.547T>C (p.Phe183Leu) | single nucleotide variant | not specified [RCV004252658] | Chr4:151577891 [GRCh38] Chr4:152499043 [GRCh37] Chr4:4q31.3 |
uncertain significance |
NM_001109977.3(FHIP1A):c.829C>G (p.Leu277Val) | single nucleotide variant | not specified [RCV004323242] | Chr4:151586737 [GRCh38] Chr4:152507889 [GRCh37] Chr4:4q31.3 |
uncertain significance |
NM_001109977.3(FHIP1A):c.190G>A (p.Val64Met) | single nucleotide variant | not specified [RCV004325307] | Chr4:151577534 [GRCh38] Chr4:152498686 [GRCh37] Chr4:4q31.3 |
uncertain significance |
NM_001109977.3(FHIP1A):c.1114A>G (p.Thr372Ala) | single nucleotide variant | not specified [RCV004327859] | Chr4:151629837 [GRCh38] Chr4:152550989 [GRCh37] Chr4:4q31.3 |
uncertain significance |
NM_001109977.3(FHIP1A):c.2384A>G (p.Glu795Gly) | single nucleotide variant | not specified [RCV004312382] | Chr4:151650425 [GRCh38] Chr4:152571577 [GRCh37] Chr4:4q31.3 |
uncertain significance |
NM_001109977.3(FHIP1A):c.3007C>G (p.Pro1003Ala) | single nucleotide variant | not specified [RCV004342313] | Chr4:151662638 [GRCh38] Chr4:152583790 [GRCh37] Chr4:4q31.3 |
uncertain significance |
NM_001109977.3(FHIP1A):c.1538G>A (p.Arg513His) | single nucleotide variant | not specified [RCV004343718] | Chr4:151649579 [GRCh38] Chr4:152570731 [GRCh37] Chr4:4q31.3 |
likely benign |
NM_001109977.3(FHIP1A):c.2566G>A (p.Val856Ile) | single nucleotide variant | not specified [RCV004342118] | Chr4:151656246 [GRCh38] Chr4:152577398 [GRCh37] Chr4:4q31.3 |
uncertain significance |
NM_001109977.3(FHIP1A):c.2231C>T (p.Ala744Val) | single nucleotide variant | not specified [RCV004341413] | Chr4:151650272 [GRCh38] Chr4:152571424 [GRCh37] Chr4:4q31.3 |
uncertain significance |
NM_001109977.3(FHIP1A):c.838C>T (p.Pro280Ser) | single nucleotide variant | not specified [RCV004355909] | Chr4:151586746 [GRCh38] Chr4:152507898 [GRCh37] Chr4:4q31.3 |
uncertain significance |
NM_001109977.3(FHIP1A):c.1453G>A (p.Glu485Lys) | single nucleotide variant | not specified [RCV004354054] | Chr4:151649494 [GRCh38] Chr4:152570646 [GRCh37] Chr4:4q31.3 |
uncertain significance |
NM_001109977.3(FHIP1A):c.709G>A (p.Val237Met) | single nucleotide variant | not specified [RCV004345722] | Chr4:151578053 [GRCh38] Chr4:152499205 [GRCh37] Chr4:4q31.3 |
uncertain significance |
NM_001109977.3(FHIP1A):c.1610A>G (p.Gln537Arg) | single nucleotide variant | not specified [RCV004362514] | Chr4:151649651 [GRCh38] Chr4:152570803 [GRCh37] Chr4:4q31.3 |
uncertain significance |
GRCh37/hg19 4q31.3(chr4:152578956-152939694)x3 | copy number gain | not provided [RCV003484208] | Chr4:152578956..152939694 [GRCh37] Chr4:4q31.3 |
uncertain significance |
GRCh37/hg19 4q26-32.3(chr4:117518683-168174703)x3 | copy number gain | not provided [RCV003484198] | Chr4:117518683..168174703 [GRCh37] Chr4:4q26-32.3 |
pathogenic |
NM_001109977.3(FHIP1A):c.12G>A (p.Ser4=) | single nucleotide variant | not provided [RCV003439512] | Chr4:151566271 [GRCh38] Chr4:152487423 [GRCh37] Chr4:4q31.3 |
likely benign |
NM_001109977.3(FHIP1A):c.1284A>G (p.Arg428=) | single nucleotide variant | not provided [RCV003439513] | Chr4:151646615 [GRCh38] Chr4:152567767 [GRCh37] Chr4:4q31.3 |
likely benign |
GRCh37/hg19 4q27-35.2(chr4:123399154-190957473)x3 | copy number gain | not specified [RCV003986533] | Chr4:123399154..190957473 [GRCh37] Chr4:4q27-35.2 |
pathogenic |
GRCh37/hg19 4q24-35.2(chr4:101203509-190957473)x3 | copy number gain | not specified [RCV003986496] | Chr4:101203509..190957473 [GRCh37] Chr4:4q24-35.2 |
pathogenic |
GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3 | copy number gain | not provided [RCV003885507] | Chr4:45455621..191003541 [GRCh37] Chr4:4p12-q35.2 |
pathogenic |
NM_001109977.3(FHIP1A):c.1833T>G (p.Ile611Met) | single nucleotide variant | not specified [RCV004394274] | Chr4:151649874 [GRCh38] Chr4:152571026 [GRCh37] Chr4:4q31.3 |
uncertain significance |
NM_001109977.3(FHIP1A):c.1837C>T (p.Pro613Ser) | single nucleotide variant | not specified [RCV004394275] | Chr4:151649878 [GRCh38] Chr4:152571030 [GRCh37] Chr4:4q31.3 |
uncertain significance |
NM_001109977.3(FHIP1A):c.227T>C (p.Ile76Thr) | single nucleotide variant | not specified [RCV004394281] | Chr4:151577571 [GRCh38] Chr4:152498723 [GRCh37] Chr4:4q31.3 |
uncertain significance |
NM_001109977.3(FHIP1A):c.2564G>T (p.Ser855Ile) | single nucleotide variant | not specified [RCV004394287] | Chr4:151656244 [GRCh38] Chr4:152577396 [GRCh37] Chr4:4q31.3 |
uncertain significance |
NM_001109977.3(FHIP1A):c.718A>G (p.Thr240Ala) | single nucleotide variant | not specified [RCV004394306] | Chr4:151578062 [GRCh38] Chr4:152499214 [GRCh37] Chr4:4q31.3 |
uncertain significance |
NM_001109977.3(FHIP1A):c.1042G>A (p.Glu348Lys) | single nucleotide variant | not specified [RCV004394258] | Chr4:151629765 [GRCh38] Chr4:152550917 [GRCh37] Chr4:4q31.3 |
uncertain significance |
NM_001109977.3(FHIP1A):c.1172T>A (p.Phe391Tyr) | single nucleotide variant | not specified [RCV004394262] | Chr4:151638702 [GRCh38] Chr4:152559854 [GRCh37] Chr4:4q31.3 |
uncertain significance |
NM_001109977.3(FHIP1A):c.1504C>A (p.Gln502Lys) | single nucleotide variant | not specified [RCV004394266] | Chr4:151649545 [GRCh38] Chr4:152570697 [GRCh37] Chr4:4q31.3 |
uncertain significance |
NM_001109977.3(FHIP1A):c.1556G>A (p.Arg519His) | single nucleotide variant | not specified [RCV004394267] | Chr4:151649597 [GRCh38] Chr4:152570749 [GRCh37] Chr4:4q31.3 |
uncertain significance |
NM_001109977.3(FHIP1A):c.1619C>G (p.Thr540Arg) | single nucleotide variant | not specified [RCV004394269] | Chr4:151649660 [GRCh38] Chr4:152570812 [GRCh37] Chr4:4q31.3 |
uncertain significance |
NM_001109977.3(FHIP1A):c.1640C>T (p.Ser547Leu) | single nucleotide variant | not specified [RCV004394271] | Chr4:151649681 [GRCh38] Chr4:152570833 [GRCh37] Chr4:4q31.3 |
uncertain significance |
NM_001109977.3(FHIP1A):c.1967T>A (p.Met656Lys) | single nucleotide variant | not specified [RCV004394276] | Chr4:151650008 [GRCh38] Chr4:152571160 [GRCh37] Chr4:4q31.3 |
uncertain significance |
NM_001109977.3(FHIP1A):c.2743G>A (p.Val915Met) | single nucleotide variant | not specified [RCV004394292] | Chr4:151656772 [GRCh38] Chr4:152577924 [GRCh37] Chr4:4q31.3 |
uncertain significance |
NM_001109977.3(FHIP1A):c.280T>G (p.Ser94Ala) | single nucleotide variant | not specified [RCV004394293] | Chr4:151577624 [GRCh38] Chr4:152498776 [GRCh37] Chr4:4q31.3 |
uncertain significance |
NM_001109977.3(FHIP1A):c.353A>C (p.Gln118Pro) | single nucleotide variant | not specified [RCV004394298] | Chr4:151577697 [GRCh38] Chr4:152498849 [GRCh37] Chr4:4q31.3 |
uncertain significance |
NM_001109977.3(FHIP1A):c.608C>T (p.Pro203Leu) | single nucleotide variant | not specified [RCV004394304] | Chr4:151577952 [GRCh38] Chr4:152499104 [GRCh37] Chr4:4q31.3 |
uncertain significance |
NM_001109977.3(FHIP1A):c.728G>A (p.Cys243Tyr) | single nucleotide variant | not specified [RCV004394307] | Chr4:151578072 [GRCh38] Chr4:152499224 [GRCh37] Chr4:4q31.3 |
uncertain significance |
NM_001109977.3(FHIP1A):c.863C>T (p.Ser288Phe) | single nucleotide variant | not specified [RCV004394309] | Chr4:151586771 [GRCh38] Chr4:152507923 [GRCh37] Chr4:4q31.3 |
uncertain significance |
NM_001109977.3(FHIP1A):c.1602G>A (p.Met534Ile) | single nucleotide variant | not specified [RCV004394268] | Chr4:151649643 [GRCh38] Chr4:152570795 [GRCh37] Chr4:4q31.3 |
uncertain significance |
NM_001109977.3(FHIP1A):c.2203G>T (p.Ala735Ser) | single nucleotide variant | not specified [RCV004394278] | Chr4:151650244 [GRCh38] Chr4:152571396 [GRCh37] Chr4:4q31.3 |
uncertain significance |
NM_001109977.3(FHIP1A):c.2283G>C (p.Glu761Asp) | single nucleotide variant | not specified [RCV004394282] | Chr4:151650324 [GRCh38] Chr4:152571476 [GRCh37] Chr4:4q31.3 |
uncertain significance |
NM_001109977.3(FHIP1A):c.2629G>A (p.Gly877Arg) | single nucleotide variant | not specified [RCV004394288] | Chr4:151656309 [GRCh38] Chr4:152577461 [GRCh37] Chr4:4q31.3 |
uncertain significance |
NM_001109977.3(FHIP1A):c.2675C>T (p.Ser892Phe) | single nucleotide variant | not specified [RCV004394289] | Chr4:151656355 [GRCh38] Chr4:152577507 [GRCh37] Chr4:4q31.3 |
uncertain significance |
NM_001109977.3(FHIP1A):c.410A>G (p.Lys137Arg) | single nucleotide variant | not specified [RCV004394302] | Chr4:151577754 [GRCh38] Chr4:152498906 [GRCh37] Chr4:4q31.3 |
uncertain significance |
NM_001109977.3(FHIP1A):c.2489G>A (p.Gly830Glu) | single nucleotide variant | not specified [RCV004394284] | Chr4:151650530 [GRCh38] Chr4:152571682 [GRCh37] Chr4:4q31.3 |
uncertain significance |
NM_001109977.3(FHIP1A):c.2693A>G (p.Asn898Ser) | single nucleotide variant | not specified [RCV004394290] | Chr4:151656373 [GRCh38] Chr4:152577525 [GRCh37] Chr4:4q31.3 |
uncertain significance |
NM_001109977.3(FHIP1A):c.2828G>A (p.Arg943His) | single nucleotide variant | not specified [RCV004394294] | Chr4:151656857 [GRCh38] Chr4:152578009 [GRCh37] Chr4:4q31.3 |
uncertain significance |
NM_001109977.3(FHIP1A):c.1243A>C (p.Asn415His) | single nucleotide variant | not specified [RCV004394263] | Chr4:151646574 [GRCh38] Chr4:152567726 [GRCh37] Chr4:4q31.3 |
uncertain significance |
NM_001109977.3(FHIP1A):c.1441G>A (p.Glu481Lys) | single nucleotide variant | not specified [RCV004394265] | Chr4:151649482 [GRCh38] Chr4:152570634 [GRCh37] Chr4:4q31.3 |
uncertain significance |
NM_001109977.3(FHIP1A):c.1664C>T (p.Pro555Leu) | single nucleotide variant | not specified [RCV004394272] | Chr4:151649705 [GRCh38] Chr4:152570857 [GRCh37] Chr4:4q31.3 |
uncertain significance |
NM_001109977.3(FHIP1A):c.2274C>G (p.Ile758Met) | single nucleotide variant | not specified [RCV004394280] | Chr4:151650315 [GRCh38] Chr4:152571467 [GRCh37] Chr4:4q31.3 |
uncertain significance |
NM_001109977.3(FHIP1A):c.2717G>A (p.Arg906His) | single nucleotide variant | not specified [RCV004394291] | Chr4:151656397 [GRCh38] Chr4:152577549 [GRCh37] Chr4:4q31.3 |
uncertain significance |
NM_001109977.3(FHIP1A):c.3012G>A (p.Met1004Ile) | single nucleotide variant | not specified [RCV004394296] | Chr4:151662643 [GRCh38] Chr4:152583795 [GRCh37] Chr4:4q31.3 |
uncertain significance |
NM_001109977.3(FHIP1A):c.449G>A (p.Cys150Tyr) | single nucleotide variant | not specified [RCV004394303] | Chr4:151577793 [GRCh38] Chr4:152498945 [GRCh37] Chr4:4q31.3 |
uncertain significance |
NM_001109977.3(FHIP1A):c.1043A>G (p.Glu348Gly) | single nucleotide variant | not specified [RCV004394259] | Chr4:151629766 [GRCh38] Chr4:152550918 [GRCh37] Chr4:4q31.3 |
uncertain significance |
NM_001109977.3(FHIP1A):c.1094A>G (p.Glu365Gly) | single nucleotide variant | not specified [RCV004394260] | Chr4:151629817 [GRCh38] Chr4:152550969 [GRCh37] Chr4:4q31.3 |
uncertain significance |
NM_001109977.3(FHIP1A):c.1144C>T (p.Arg382Trp) | single nucleotide variant | not specified [RCV004394261] | Chr4:151629867 [GRCh38] Chr4:152551019 [GRCh37] Chr4:4q31.3 |
uncertain significance |
NM_001109977.3(FHIP1A):c.1369C>A (p.Gln457Lys) | single nucleotide variant | not specified [RCV004394264] | Chr4:151646700 [GRCh38] Chr4:152567852 [GRCh37] Chr4:4q31.3 |
uncertain significance |
NM_001109977.3(FHIP1A):c.1637G>T (p.Ser546Ile) | single nucleotide variant | not specified [RCV004394270] | Chr4:151649678 [GRCh38] Chr4:152570830 [GRCh37] Chr4:4q31.3 |
uncertain significance |
NM_001109977.3(FHIP1A):c.1831A>C (p.Ile611Leu) | single nucleotide variant | not specified [RCV004394273] | Chr4:151649872 [GRCh38] Chr4:152571024 [GRCh37] Chr4:4q31.3 |
uncertain significance |
NM_001109977.3(FHIP1A):c.2989C>T (p.Pro997Ser) | single nucleotide variant | not specified [RCV004394295] | Chr4:151662620 [GRCh38] Chr4:152583772 [GRCh37] Chr4:4q31.3 |
uncertain significance |
NM_001109977.3(FHIP1A):c.364T>A (p.Tyr122Asn) | single nucleotide variant | not specified [RCV004394299] | Chr4:151577708 [GRCh38] Chr4:152498860 [GRCh37] Chr4:4q31.3 |
uncertain significance |
NM_001109977.3(FHIP1A):c.386C>T (p.Ser129Leu) | single nucleotide variant | not specified [RCV004394301] | Chr4:151577730 [GRCh38] Chr4:152498882 [GRCh37] Chr4:4q31.3 |
uncertain significance |
NM_001109977.3(FHIP1A):c.652G>T (p.Ala218Ser) | single nucleotide variant | not specified [RCV004394305] | Chr4:151577996 [GRCh38] Chr4:152499148 [GRCh37] Chr4:4q31.3 |
uncertain significance |
NM_001109977.3(FHIP1A):c.974A>G (p.His325Arg) | single nucleotide variant | not specified [RCV004394310] | Chr4:151588922 [GRCh38] Chr4:152510074 [GRCh37] Chr4:4q31.3 |
uncertain significance |
NM_001109977.3(FHIP1A):c.20C>T (p.Thr7Ile) | single nucleotide variant | not specified [RCV004394277] | Chr4:151566279 [GRCh38] Chr4:152487431 [GRCh37] Chr4:4q31.3 |
uncertain significance |
NM_001109977.3(FHIP1A):c.2237C>T (p.Pro746Leu) | single nucleotide variant | not specified [RCV004394279] | Chr4:151650278 [GRCh38] Chr4:152571430 [GRCh37] Chr4:4q31.3 |
uncertain significance |
NM_001109977.3(FHIP1A):c.244G>A (p.Asp82Asn) | single nucleotide variant | not specified [RCV004394283] | Chr4:151577588 [GRCh38] Chr4:152498740 [GRCh37] Chr4:4q31.3 |
uncertain significance |
NM_001109977.3(FHIP1A):c.2516G>A (p.Arg839His) | single nucleotide variant | not specified [RCV004394285] | Chr4:151650557 [GRCh38] Chr4:152571709 [GRCh37] Chr4:4q31.3 |
likely benign |
NM_001109977.3(FHIP1A):c.2537G>T (p.Ser846Ile) | single nucleotide variant | not specified [RCV004394286] | Chr4:151650578 [GRCh38] Chr4:152571730 [GRCh37] Chr4:4q31.3 |
uncertain significance |
NM_001109977.3(FHIP1A):c.379A>G (p.Thr127Ala) | single nucleotide variant | not specified [RCV004394300] | Chr4:151577723 [GRCh38] Chr4:152498875 [GRCh37] Chr4:4q31.3 |
uncertain significance |
NM_001109977.3(FHIP1A):c.76A>G (p.Met26Val) | single nucleotide variant | not specified [RCV004394308] | Chr4:151566335 [GRCh38] Chr4:152487487 [GRCh37] Chr4:4q31.3 |
uncertain significance |
NM_001109977.3(FHIP1A):c.457A>T (p.Thr153Ser) | single nucleotide variant | not specified [RCV004349701] | Chr4:151577801 [GRCh38] Chr4:152498953 [GRCh37] Chr4:4q31.3 |
uncertain significance |
The detailed report is available here: | Full Report | CSV | TAB | Printer | ||||
miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/). For more information about miRGate, see PMID:25858286 or access the full paper here. |
SHGC-51206 |
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SHGC-57096 |
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SHGC-68685 |
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SHGC-105026 |
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SHGC-146808 |
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G65552 |
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D4S1324 |
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D4S481 |
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D4S848 |
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D4S942 |
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D4S1123 |
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alimentary part of gastrointestinal system | circulatory system | endocrine system | exocrine system | hemolymphoid system | hepatobiliary system | integumental system | musculoskeletal system | nervous system | renal system | reproductive system | respiratory system | sensory system | visual system | adipose tissue | appendage | entire extraembryonic component | pharyngeal arch | |
High | ||||||||||||||||||
Medium | 42 | 21 | 7 | 4 | 4 | 1169 | 151 | 7 | 15 | 79 | 82 | 11 | 620 | |||||
Low | 1216 | 1231 | 1266 | 321 | 367 | 166 | 2014 | 1252 | 1464 | 362 | 1315 | 1435 | 163 | 1 | 353 | 1667 | 4 | 1 |
Below cutoff | 1174 | 1698 | 409 | 270 | 1298 | 269 | 1150 | 780 | 2073 | 40 | 65 | 93 | 828 | 501 | 1 | 1 |
RefSeq Transcripts | NM_001109977 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_001348694 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_005263199 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_011532220 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_011532221 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_011532223 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_011532224 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017008583 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_024454201 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047416127 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054350780 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054350781 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054350782 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054350783 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054350784 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054350785 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054350786 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054350787 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AA021504 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AC079795 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AC092611 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AC097455 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK125363 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC014937 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CP068274 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CV410375 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DA722299 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENST00000435205 ⟹ ENSP00000413196 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000503146 ⟹ ENSP00000424175 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000505231 ⟹ ENSP00000421580 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000508198 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000508664 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000511501 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000512597 ⟹ ENSP00000421948 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000513086 ⟹ ENSP00000425333 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000513962 ⟹ ENSP00000426677 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | NM_001109977 ⟹ NP_001103447 | ||||||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_001348694 ⟹ NP_001335623 | ||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_005263199 ⟹ XP_005263256 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_011532220 ⟹ XP_011530522 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_011532221 ⟹ XP_011530523 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_011532223 ⟹ XP_011530525 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_011532224 ⟹ XP_011530526 | ||||||||
Type: | CODING | ||||||||
Position: |
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||||||||
Sequence: |
RefSeq Acc Id: | XM_017008583 ⟹ XP_016864072 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_024454201 ⟹ XP_024309969 | ||||||||
Type: | CODING | ||||||||
Position: |
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||||||||
Sequence: |
RefSeq Acc Id: | XM_047416127 ⟹ XP_047272083 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_054350780 ⟹ XP_054206755 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_054350781 ⟹ XP_054206756 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054350782 ⟹ XP_054206757 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_054350783 ⟹ XP_054206758 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_054350784 ⟹ XP_054206759 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_054350785 ⟹ XP_054206760 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_054350786 ⟹ XP_054206761 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_054350787 ⟹ XP_054206762 | ||||||||
Type: | CODING | ||||||||
Position: |
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Protein RefSeqs | NP_001103447 | (Get FASTA) | NCBI Sequence Viewer |
NP_001335623 | (Get FASTA) | NCBI Sequence Viewer | |
XP_005263256 | (Get FASTA) | NCBI Sequence Viewer | |
XP_011530522 | (Get FASTA) | NCBI Sequence Viewer | |
XP_011530523 | (Get FASTA) | NCBI Sequence Viewer | |
XP_011530525 | (Get FASTA) | NCBI Sequence Viewer | |
XP_011530526 | (Get FASTA) | NCBI Sequence Viewer | |
XP_016864072 | (Get FASTA) | NCBI Sequence Viewer | |
XP_024309969 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047272083 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054206755 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054206756 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054206757 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054206758 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054206759 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054206760 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054206761 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054206762 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAH14937 | (Get FASTA) | NCBI Sequence Viewer |
BAC86147 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSP00000413196 | ||
ENSP00000413196.1 | |||
ENSP00000421580 | |||
ENSP00000421580.1 | |||
ENSP00000421948.1 | |||
ENSP00000424175.1 | |||
ENSP00000425333.1 | |||
ENSP00000426677.1 | |||
GenBank Protein | Q05DH4 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_001103447 ⟸ NM_001109977 |
- UniProtKB: | Q6ZUS2 (UniProtKB/Swiss-Prot), Q05DH4 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | XP_005263256 ⟸ XM_005263199 |
- Peptide Label: | isoform X1 |
- UniProtKB: | Q6ZUS2 (UniProtKB/Swiss-Prot), Q05DH4 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | XP_011530523 ⟸ XM_011532221 |
- Peptide Label: | isoform X1 |
- UniProtKB: | Q6ZUS2 (UniProtKB/Swiss-Prot), Q05DH4 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | XP_011530525 ⟸ XM_011532223 |
- Peptide Label: | isoform X1 |
- UniProtKB: | Q6ZUS2 (UniProtKB/Swiss-Prot), Q05DH4 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | XP_011530522 ⟸ XM_011532220 |
- Peptide Label: | isoform X1 |
- UniProtKB: | Q6ZUS2 (UniProtKB/Swiss-Prot), Q05DH4 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | XP_011530526 ⟸ XM_011532224 |
- Peptide Label: | isoform X1 |
- UniProtKB: | Q6ZUS2 (UniProtKB/Swiss-Prot), Q05DH4 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | XP_016864072 ⟸ XM_017008583 |
- Peptide Label: | isoform X2 |
- Sequence: |
RefSeq Acc Id: | XP_024309969 ⟸ XM_024454201 |
- Peptide Label: | isoform X1 |
- UniProtKB: | Q05DH4 (UniProtKB/Swiss-Prot), Q6ZUS2 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | NP_001335623 ⟸ NM_001348694 |
- UniProtKB: | Q6ZUS2 (UniProtKB/Swiss-Prot), Q05DH4 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | ENSP00000424175 ⟸ ENST00000503146 |
RefSeq Acc Id: | ENSP00000421580 ⟸ ENST00000505231 |
RefSeq Acc Id: | ENSP00000421948 ⟸ ENST00000512597 |
RefSeq Acc Id: | ENSP00000426677 ⟸ ENST00000513962 |
RefSeq Acc Id: | ENSP00000425333 ⟸ ENST00000513086 |
RefSeq Acc Id: | ENSP00000413196 ⟸ ENST00000435205 |
RefSeq Acc Id: | XP_047272083 ⟸ XM_047416127 |
- Peptide Label: | isoform X1 |
- UniProtKB: | Q05DH4 (UniProtKB/Swiss-Prot), Q6ZUS2 (UniProtKB/Swiss-Prot) |
RefSeq Acc Id: | XP_054206755 ⟸ XM_054350780 |
- Peptide Label: | isoform X1 |
- UniProtKB: | Q05DH4 (UniProtKB/Swiss-Prot), Q6ZUS2 (UniProtKB/Swiss-Prot) |
RefSeq Acc Id: | XP_054206759 ⟸ XM_054350784 |
- Peptide Label: | isoform X1 |
- UniProtKB: | Q05DH4 (UniProtKB/Swiss-Prot), Q6ZUS2 (UniProtKB/Swiss-Prot) |
RefSeq Acc Id: | XP_054206756 ⟸ XM_054350781 |
- Peptide Label: | isoform X1 |
- UniProtKB: | Q05DH4 (UniProtKB/Swiss-Prot), Q6ZUS2 (UniProtKB/Swiss-Prot) |
RefSeq Acc Id: | XP_054206757 ⟸ XM_054350782 |
- Peptide Label: | isoform X1 |
- UniProtKB: | Q05DH4 (UniProtKB/Swiss-Prot), Q6ZUS2 (UniProtKB/Swiss-Prot) |
RefSeq Acc Id: | XP_054206758 ⟸ XM_054350783 |
- Peptide Label: | isoform X1 |
- UniProtKB: | Q05DH4 (UniProtKB/Swiss-Prot), Q6ZUS2 (UniProtKB/Swiss-Prot) |
RefSeq Acc Id: | XP_054206760 ⟸ XM_054350785 |
- Peptide Label: | isoform X1 |
- UniProtKB: | Q05DH4 (UniProtKB/Swiss-Prot), Q6ZUS2 (UniProtKB/Swiss-Prot) |
RefSeq Acc Id: | XP_054206761 ⟸ XM_054350786 |
- Peptide Label: | isoform X1 |
- UniProtKB: | Q05DH4 (UniProtKB/Swiss-Prot), Q6ZUS2 (UniProtKB/Swiss-Prot) |
RefSeq Acc Id: | XP_054206762 ⟸ XM_054350787 |
- Peptide Label: | isoform X2 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-Q05DH4-F1-model_v2 | AlphaFold | Q05DH4 | 1-1040 | view protein structure |
Database | Acc Id | Source(s) |
AGR Gene | HGNC:34237 | AgrOrtholog |
COSMIC | FHIP1A | COSMIC |
Ensembl Genes | ENSG00000164142 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Ensembl Transcript | ENST00000435205 | ENTREZGENE |
ENST00000435205.6 | UniProtKB/Swiss-Prot | |
ENST00000503146.5 | UniProtKB/TrEMBL | |
ENST00000505231 | ENTREZGENE | |
ENST00000505231.1 | UniProtKB/Swiss-Prot | |
ENST00000512597.5 | UniProtKB/TrEMBL | |
ENST00000513086.5 | UniProtKB/TrEMBL | |
ENST00000513962.5 | UniProtKB/TrEMBL | |
GTEx | ENSG00000164142 | GTEx |
HGNC ID | HGNC:34237 | ENTREZGENE |
Human Proteome Map | FHIP1A | Human Proteome Map |
InterPro | FHIP_C | UniProtKB/Swiss-Prot |
FHIP_KELAA_motif | UniProtKB/Swiss-Prot | |
RetinoicA-induced_16-like | UniProtKB/Swiss-Prot | |
KEGG Report | hsa:729830 | UniProtKB/Swiss-Prot |
NCBI Gene | 729830 | ENTREZGENE |
PANTHER | FHF COMPLEX SUBUNIT HOOK INTERACTING PROTEIN 1A | UniProtKB/Swiss-Prot |
PTHR21705 | UniProtKB/Swiss-Prot | |
Pfam | DUF5917 | UniProtKB/Swiss-Prot |
KELAA | UniProtKB/Swiss-Prot | |
RAI16-like | UniProtKB/Swiss-Prot | |
UniProt | D6RAG2_HUMAN | UniProtKB/TrEMBL |
D6RBF5_HUMAN | UniProtKB/TrEMBL | |
D6RDL4_HUMAN | UniProtKB/TrEMBL | |
D6RF38_HUMAN | UniProtKB/TrEMBL | |
F16A1_HUMAN | UniProtKB/Swiss-Prot, ENTREZGENE | |
Q6ZUS2 | ENTREZGENE | |
UniProt Secondary | Q6ZUS2 | UniProtKB/Swiss-Prot |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
---|---|---|---|---|---|---|---|
2021-01-25 | FHIP1A | FHF complex subunit HOOK interacting protein 1A | FAM160A1 | family with sequence similarity 160 member A1 | Symbol and/or name change | 19259463 | PROVISIONAL |
2015-11-24 | FAM160A1 | family with sequence similarity 160 member A1 | family with sequence similarity 160, member A1 | Symbol and/or name change | 5135510 | APPROVED |