Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | prostate cancer | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Malignant tumor of prostate | ClinVar | PMID:23265383 | |
|
Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | prostate cancer | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Malignant tumor of prostate | ClinVar | PMID:23265383 | |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
# | Reference Title | Reference Citation |
1. | GOAs Human GO annotations | GOA_HUMAN data from the GO Consortium |
2. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation Pipeline |
3. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
4. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
5. | 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:10458911 | PMID:11214971 | PMID:11756498 | PMID:12376548 | PMID:12477932 | PMID:12787561 | PMID:14574404 | PMID:14702039 | PMID:15489334 | PMID:16196087 | PMID:17564959 | PMID:18838382 |
PMID:21873635 | PMID:24927181 | PMID:25416956 | PMID:32203420 | PMID:32296183 | PMID:32681954 |
FGD2 (Homo sapiens - human) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fgd2 (Mus musculus - house mouse) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fgd2 (Rattus norvegicus - Norway rat) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fgd2 (Chinchilla lanigera - long-tailed chinchilla) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
FGD2 (Pan paniscus - bonobo/pygmy chimpanzee) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
FGD2 (Canis lupus familiaris - dog) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fgd2 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
FGD2 (Sus scrofa - pig) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
FGD2 (Chlorocebus sabaeus - green monkey) |
|
.
Variants in FGD2
49 total Variants |
Name | Type | Condition(s) | Position(s) | Clinical significance |
NM_173558.3(FGD2):c.1965C>T (p.Asp655=) | single nucleotide variant | Malignant melanoma [RCV000067338] | Chr6:37028160 [GRCh38] Chr6:36995936 [GRCh37] Chr6:37103914 [NCBI36] Chr6:6p21.2 |
not provided |
GRCh37/hg19 6p21.31-21.2(chr6:34401304-38435497) | copy number loss | Severe intrauterine growth retardation [RCV001291973] | Chr6:34401304..38435497 [GRCh37] Chr6:6p21.31-21.2 |
pathogenic |
NM_173558.4(FGD2):c.882+3A>C | single nucleotide variant | Malignant tumor of prostate [RCV000149367] | Chr6:37014707 [GRCh38] Chr6:36982483 [GRCh37] Chr6:6p21.2 |
uncertain significance |
GRCh38/hg38 6p21.2(chr6:36858748-37062057)x3 | copy number gain | See cases [RCV000139390] | Chr6:36858748..37062057 [GRCh38] Chr6:36826524..37029833 [GRCh37] Chr6:36934502..37137811 [NCBI36] Chr6:6p21.2 |
likely benign |
GRCh38/hg38 6p21.2(chr6:36822889-37159699)x1 | copy number loss | See cases [RCV000143519] | Chr6:36822889..37159699 [GRCh38] Chr6:36790665..37127475 [GRCh37] Chr6:36898643..37235453 [NCBI36] Chr6:6p21.2 |
likely pathogenic|uncertain significance |
GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3 | copy number gain | See cases [RCV000143497] | Chr6:156974..46789291 [GRCh38] Chr6:156974..46757028 [GRCh37] Chr6:101974..46864987 [NCBI36] Chr6:6p25.3-12.3 |
pathogenic |
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3 | copy number gain | See cases [RCV000512067] | Chr6:156975..170919482 [GRCh37] Chr6:6p25.3-q27 |
pathogenic |
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482) | copy number gain | See cases [RCV000510595] | Chr6:156975..170919482 [GRCh37] Chr6:6p25.3-q27 |
pathogenic |
NM_173558.4(FGD2):c.415A>G (p.Ser139Gly) | single nucleotide variant | not specified [RCV004329581] | Chr6:37011742 [GRCh38] Chr6:36979518 [GRCh37] Chr6:6p21.2 |
uncertain significance |
NM_173558.4(FGD2):c.1565T>C (p.Leu522Pro) | single nucleotide variant | not specified [RCV004299391] | Chr6:37025898 [GRCh38] Chr6:36993674 [GRCh37] Chr6:6p21.2 |
uncertain significance |
NM_173558.4(FGD2):c.244A>G (p.Ser82Gly) | single nucleotide variant | not specified [RCV004289850] | Chr6:37009009 [GRCh38] Chr6:36976785 [GRCh37] Chr6:6p21.2 |
uncertain significance |
NM_173558.4(FGD2):c.994C>T (p.Arg332Cys) | single nucleotide variant | not specified [RCV004291822] | Chr6:37015003 [GRCh38] Chr6:36982779 [GRCh37] Chr6:6p21.2 |
uncertain significance |
GRCh37/hg19 6p25.3-q27(chr6:108666-170980171)x3 | copy number gain | not provided [RCV000745403] | Chr6:108666..170980171 [GRCh37] Chr6:6p25.3-q27 |
pathogenic |
GRCh37/hg19 6p25.3-q27(chr6:60107-171054786)x3 | copy number gain | not provided [RCV000745400] | Chr6:60107..171054786 [GRCh37] Chr6:6p25.3-q27 |
pathogenic |
GRCh37/hg19 6p25.3-q27(chr6:165632-170919470)x3 | copy number gain | not provided [RCV000745404] | Chr6:165632..170919470 [GRCh37] Chr6:6p25.3-q27 |
pathogenic |
NM_173558.4(FGD2):c.1341G>C (p.Glu447Asp) | single nucleotide variant | not provided [RCV000948733] | Chr6:37022253 [GRCh38] Chr6:36990029 [GRCh37] Chr6:6p21.2 |
benign |
NM_173558.4(FGD2):c.113A>G (p.His38Arg) | single nucleotide variant | not provided [RCV000966997] | Chr6:37008878 [GRCh38] Chr6:36976654 [GRCh37] Chr6:6p21.2 |
benign |
NM_173558.4(FGD2):c.181G>A (p.Val61Met) | single nucleotide variant | not provided [RCV000946941] | Chr6:37008946 [GRCh38] Chr6:36976722 [GRCh37] Chr6:6p21.2 |
benign |
NM_173558.4(FGD2):c.108C>A (p.Asp36Glu) | single nucleotide variant | not provided [RCV000961713] | Chr6:37008873 [GRCh38] Chr6:36976649 [GRCh37] Chr6:6p21.2 |
benign |
GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367) | copy number gain | not provided [RCV000767714] | Chr6:29455465..81447367 [GRCh37] Chr6:6p22.1-q14.1 |
pathogenic |
NM_173558.4(FGD2):c.1030-6C>T | single nucleotide variant | not provided [RCV000938809] | Chr6:37015762 [GRCh38] Chr6:36983538 [GRCh37] Chr6:6p21.2 |
likely benign |
NM_173558.4(FGD2):c.1590G>A (p.Arg530=) | single nucleotide variant | not provided [RCV000965004] | Chr6:37025923 [GRCh38] Chr6:36993699 [GRCh37] Chr6:6p21.2 |
benign |
GRCh37/hg19 6p21.2(chr6:36776798-37106051)x3 | copy number gain | not provided [RCV000848155] | Chr6:36776798..37106051 [GRCh37] Chr6:6p21.2 |
uncertain significance |
NM_173558.4(FGD2):c.699G>A (p.Ser233=) | single nucleotide variant | not provided [RCV000963171] | Chr6:37013976 [GRCh38] Chr6:36981752 [GRCh37] Chr6:6p21.2 |
benign |
NM_173558.4(FGD2):c.1506C>T (p.Asp502=) | single nucleotide variant | not provided [RCV000948734] | Chr6:37025839 [GRCh38] Chr6:36993615 [GRCh37] Chr6:6p21.2 |
benign |
NM_173558.4(FGD2):c.642C>T (p.Thr214=) | single nucleotide variant | not provided [RCV000956381] | Chr6:37013723 [GRCh38] Chr6:36981499 [GRCh37] Chr6:6p21.2 |
benign |
NM_173558.4(FGD2):c.108C>G (p.Asp36Glu) | single nucleotide variant | not specified [RCV004315317] | Chr6:37008873 [GRCh38] Chr6:36976649 [GRCh37] Chr6:6p21.2 |
uncertain significance |
NM_173558.4(FGD2):c.1870G>A (p.Glu624Lys) | single nucleotide variant | not specified [RCV004307605] | Chr6:37028065 [GRCh38] Chr6:36995841 [GRCh37] Chr6:6p21.2 |
uncertain significance |
NM_173558.4(FGD2):c.523G>A (p.Asp175Asn) | single nucleotide variant | not specified [RCV004169511] | Chr6:37011850 [GRCh38] Chr6:36979626 [GRCh37] Chr6:6p21.2 |
uncertain significance |
NM_173558.4(FGD2):c.1733A>T (p.Tyr578Phe) | single nucleotide variant | not specified [RCV004207089] | Chr6:37027556 [GRCh38] Chr6:36995332 [GRCh37] Chr6:6p21.2 |
uncertain significance |
NM_173558.4(FGD2):c.1254C>A (p.Asp418Glu) | single nucleotide variant | not specified [RCV004224745] | Chr6:37021532 [GRCh38] Chr6:36989308 [GRCh37] Chr6:6p21.2 |
uncertain significance |
NM_173558.4(FGD2):c.1520A>G (p.Asn507Ser) | single nucleotide variant | not specified [RCV004240380] | Chr6:37025853 [GRCh38] Chr6:36993629 [GRCh37] Chr6:6p21.2 |
uncertain significance |
NM_173558.4(FGD2):c.1823G>A (p.Arg608Gln) | single nucleotide variant | not specified [RCV004236149] | Chr6:37028018 [GRCh38] Chr6:36995794 [GRCh37] Chr6:6p21.2 |
uncertain significance |
NM_173558.4(FGD2):c.514C>T (p.Arg172Cys) | single nucleotide variant | not specified [RCV004247112] | Chr6:37011841 [GRCh38] Chr6:36979617 [GRCh37] Chr6:6p21.2 |
uncertain significance |
NM_173558.4(FGD2):c.119G>T (p.Arg40Leu) | single nucleotide variant | not specified [RCV004079796] | Chr6:37008884 [GRCh38] Chr6:36976660 [GRCh37] Chr6:6p21.2 |
uncertain significance |
NM_173558.4(FGD2):c.1413C>G (p.Phe471Leu) | single nucleotide variant | not specified [RCV004075938] | Chr6:37022325 [GRCh38] Chr6:36990101 [GRCh37] Chr6:6p21.2 |
uncertain significance |
NM_173558.4(FGD2):c.934G>A (p.Asp312Asn) | single nucleotide variant | not specified [RCV004082589] | Chr6:37014943 [GRCh38] Chr6:36982719 [GRCh37] Chr6:6p21.2 |
uncertain significance |
NM_173558.4(FGD2):c.345G>T (p.Gln115His) | single nucleotide variant | not specified [RCV004085962] | Chr6:37011017 [GRCh38] Chr6:36978793 [GRCh37] Chr6:6p21.2 |
uncertain significance |
NM_173558.4(FGD2):c.1846G>T (p.Gly616Cys) | single nucleotide variant | not specified [RCV004161462] | Chr6:37028041 [GRCh38] Chr6:36995817 [GRCh37] Chr6:6p21.2 |
uncertain significance |
NM_173558.4(FGD2):c.931G>A (p.Asp311Asn) | single nucleotide variant | not specified [RCV004157732] | Chr6:37014940 [GRCh38] Chr6:36982716 [GRCh37] Chr6:6p21.2 |
uncertain significance |
NM_173558.4(FGD2):c.1622C>T (p.Thr541Met) | single nucleotide variant | not specified [RCV004232656] | Chr6:37027445 [GRCh38] Chr6:36995221 [GRCh37] Chr6:6p21.2 |
uncertain significance |
NM_173558.4(FGD2):c.296C>T (p.Thr99Met) | single nucleotide variant | not specified [RCV004211543] | Chr6:37009061 [GRCh38] Chr6:36976837 [GRCh37] Chr6:6p21.2 |
likely benign |
NM_173558.4(FGD2):c.1210G>A (p.Glu404Lys) | single nucleotide variant | not specified [RCV004156198] | Chr6:37020716 [GRCh38] Chr6:36988492 [GRCh37] Chr6:6p21.2 |
uncertain significance |
NM_173558.4(FGD2):c.1114G>A (p.Gly372Arg) | single nucleotide variant | not specified [RCV004091332] | Chr6:37015852 [GRCh38] Chr6:36983628 [GRCh37] Chr6:6p21.2 |
uncertain significance |
NM_173558.4(FGD2):c.407C>T (p.Ala136Val) | single nucleotide variant | not specified [RCV004180743] | Chr6:37011734 [GRCh38] Chr6:36979510 [GRCh37] Chr6:6p21.2 |
uncertain significance |
NM_173558.4(FGD2):c.1028T>C (p.Leu343Ser) | single nucleotide variant | not specified [RCV004193421] | Chr6:37015037 [GRCh38] Chr6:36982813 [GRCh37] Chr6:6p21.2 |
uncertain significance |
NM_173558.4(FGD2):c.1851G>T (p.Gln617His) | single nucleotide variant | not specified [RCV004166991] | Chr6:37028046 [GRCh38] Chr6:36995822 [GRCh37] Chr6:6p21.2 |
uncertain significance |
NM_173558.4(FGD2):c.1912C>T (p.Arg638Trp) | single nucleotide variant | not specified [RCV004229346] | Chr6:37028107 [GRCh38] Chr6:36995883 [GRCh37] Chr6:6p21.2 |
uncertain significance |
NM_173558.4(FGD2):c.1916C>T (p.Ala639Val) | single nucleotide variant | not specified [RCV004094896] | Chr6:37028111 [GRCh38] Chr6:36995887 [GRCh37] Chr6:6p21.2 |
uncertain significance |
NM_173558.4(FGD2):c.1351C>T (p.Arg451Trp) | single nucleotide variant | not specified [RCV004224442] | Chr6:37022263 [GRCh38] Chr6:36990039 [GRCh37] Chr6:6p21.2 |
uncertain significance |
NM_173558.4(FGD2):c.1795G>C (p.Val599Leu) | single nucleotide variant | not specified [RCV004261621] | Chr6:37027990 [GRCh38] Chr6:36995766 [GRCh37] Chr6:6p21.2 |
uncertain significance |
NM_173558.4(FGD2):c.358C>T (p.Arg120Cys) | single nucleotide variant | not specified [RCV004253627] | Chr6:37011030 [GRCh38] Chr6:36978806 [GRCh37] Chr6:6p21.2 |
uncertain significance |
NM_173558.4(FGD2):c.312G>T (p.Lys104Asn) | single nucleotide variant | not specified [RCV004251166] | Chr6:37010984 [GRCh38] Chr6:36978760 [GRCh37] Chr6:6p21.2 |
uncertain significance |
NM_173558.4(FGD2):c.808C>A (p.Gln270Lys) | single nucleotide variant | not specified [RCV004250293] | Chr6:37014085 [GRCh38] Chr6:36981861 [GRCh37] Chr6:6p21.2 |
uncertain significance |
NM_173558.4(FGD2):c.645C>A (p.Asp215Glu) | single nucleotide variant | not specified [RCV004350728] | Chr6:37013726 [GRCh38] Chr6:36981502 [GRCh37] Chr6:6p21.2 |
likely benign |
NM_173558.4(FGD2):c.1610G>A (p.Gly537Glu) | single nucleotide variant | not specified [RCV004361165] | Chr6:37027433 [GRCh38] Chr6:36995209 [GRCh37] Chr6:6p21.2 |
uncertain significance |
GRCh37/hg19 6p21.31-21.1(chr6:35562152-42003452)x1 | copy number loss | not provided [RCV003485510] | Chr6:35562152..42003452 [GRCh37] Chr6:6p21.31-21.1 |
pathogenic |
NM_173558.4(FGD2):c.933C>T (p.Asp311=) | single nucleotide variant | not provided [RCV003431832] | Chr6:37014942 [GRCh38] Chr6:36982718 [GRCh37] Chr6:6p21.2 |
likely benign |
NM_173558.4(FGD2):c.1424C>T (p.Thr475Met) | single nucleotide variant | not specified [RCV004393939] | Chr6:37022336 [GRCh38] Chr6:36990112 [GRCh37] Chr6:6p21.2 |
uncertain significance |
NM_173558.4(FGD2):c.1735G>C (p.Val579Leu) | single nucleotide variant | not specified [RCV004393944] | Chr6:37027558 [GRCh38] Chr6:36995334 [GRCh37] Chr6:6p21.2 |
uncertain significance |
NM_173558.4(FGD2):c.782A>G (p.Gln261Arg) | single nucleotide variant | not specified [RCV004393949] | Chr6:37014059 [GRCh38] Chr6:36981835 [GRCh37] Chr6:6p21.2 |
uncertain significance |
NM_173558.4(FGD2):c.446T>C (p.Val149Ala) | single nucleotide variant | not specified [RCV004393948] | Chr6:37011773 [GRCh38] Chr6:36979549 [GRCh37] Chr6:6p21.2 |
uncertain significance |
NM_173558.4(FGD2):c.318C>G (p.Ile106Met) | single nucleotide variant | not specified [RCV004393946] | Chr6:37010990 [GRCh38] Chr6:36978766 [GRCh37] Chr6:6p21.2 |
uncertain significance |
NM_173558.4(FGD2):c.439G>A (p.Val147Ile) | single nucleotide variant | not specified [RCV004393947] | Chr6:37011766 [GRCh38] Chr6:36979542 [GRCh37] Chr6:6p21.2 |
uncertain significance |
NM_173558.4(FGD2):c.1723C>T (p.Leu575Phe) | single nucleotide variant | not specified [RCV004393943] | Chr6:37027546 [GRCh38] Chr6:36995322 [GRCh37] Chr6:6p21.2 |
uncertain significance |
NM_173558.4(FGD2):c.965G>A (p.Arg322His) | single nucleotide variant | not specified [RCV004393951] | Chr6:37014974 [GRCh38] Chr6:36982750 [GRCh37] Chr6:6p21.2 |
uncertain significance |
NM_173558.4(FGD2):c.1523G>A (p.Arg508Gln) | single nucleotide variant | not specified [RCV004393940] | Chr6:37025856 [GRCh38] Chr6:36993632 [GRCh37] Chr6:6p21.2 |
uncertain significance |
NM_173558.4(FGD2):c.222C>A (p.Asn74Lys) | single nucleotide variant | not specified [RCV004393945] | Chr6:37008987 [GRCh38] Chr6:36976763 [GRCh37] Chr6:6p21.2 |
uncertain significance |
NM_173558.4(FGD2):c.1654C>A (p.Gln552Lys) | single nucleotide variant | not specified [RCV004393942] | Chr6:37027477 [GRCh38] Chr6:36995253 [GRCh37] Chr6:6p21.2 |
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. |
D18S21 |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
G35510 |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
D11S2921 |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
D1S1425 |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
D18S21 |
|
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 | 683 | 1108 | 618 | 66 | 1669 | 19 | 1246 | 201 | 654 | 30 | 178 | 998 | 48 | 838 | 713 | |||
Low | 1659 | 1792 | 1053 | 518 | 200 | 403 | 2778 | 1808 | 2688 | 293 | 1165 | 405 | 119 | 1 | 366 | 2007 | 3 | 2 |
Below cutoff | 80 | 91 | 41 | 30 | 77 | 33 | 268 | 158 | 372 | 77 | 82 | 153 | 7 | 68 |
RefSeq Acc Id: | ENST00000274963 ⟹ ENSP00000274963 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000373535 ⟹ ENSP00000362635 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000459781 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000464083 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000470273 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000487920 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000487975 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000489356 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000493635 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000494343 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000497659 ⟹ ENSP00000419657 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | NM_173558 ⟹ NP_775829 | ||||||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | XM_011514372 ⟹ XP_011512674 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_011514373 ⟹ XP_011512675 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_047418332 ⟹ XP_047274288 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_047418333 ⟹ XP_047274289 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_047418334 ⟹ XP_047274290 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_047418335 ⟹ XP_047274291 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054354578 ⟹ XP_054210553 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054354579 ⟹ XP_054210554 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054354580 ⟹ XP_054210555 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054354581 ⟹ XP_054210556 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054354582 ⟹ XP_054210557 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054354583 ⟹ XP_054210558 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XR_008487279 | ||||||||
Type: | NON-CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XR_926106 | ||||||||
Type: | NON-CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | NP_775829 ⟸ NM_173558 |
- UniProtKB: | Q8N868 (UniProtKB/Swiss-Prot), Q8IZ32 (UniProtKB/Swiss-Prot), Q6ZNL5 (UniProtKB/Swiss-Prot), Q6P6A8 (UniProtKB/Swiss-Prot), Q5T8I1 (UniProtKB/Swiss-Prot), Q9H7M2 (UniProtKB/Swiss-Prot), Q7Z6J4 (UniProtKB/Swiss-Prot), A0A384NQ05 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_011512674 ⟸ XM_011514372 |
- Peptide Label: | isoform X3 |
- Sequence: |
RefSeq Acc Id: | XP_011512675 ⟸ XM_011514373 |
- Peptide Label: | isoform X4 |
- Sequence: |
RefSeq Acc Id: | ENSP00000362635 ⟸ ENST00000373535 |
RefSeq Acc Id: | ENSP00000419657 ⟸ ENST00000497659 |
RefSeq Acc Id: | ENSP00000274963 ⟸ ENST00000274963 |
RefSeq Acc Id: | XP_047274288 ⟸ XM_047418332 |
- Peptide Label: | isoform X1 |
RefSeq Acc Id: | XP_047274289 ⟸ XM_047418333 |
- Peptide Label: | isoform X2 |
RefSeq Acc Id: | XP_047274290 ⟸ XM_047418334 |
- Peptide Label: | isoform X5 |
RefSeq Acc Id: | XP_047274291 ⟸ XM_047418335 |
- Peptide Label: | isoform X6 |
RefSeq Acc Id: | XP_054210553 ⟸ XM_054354578 |
- Peptide Label: | isoform X1 |
RefSeq Acc Id: | XP_054210555 ⟸ XM_054354580 |
- Peptide Label: | isoform X3 |
RefSeq Acc Id: | XP_054210556 ⟸ XM_054354581 |
- Peptide Label: | isoform X4 |
RefSeq Acc Id: | XP_054210554 ⟸ XM_054354579 |
- Peptide Label: | isoform X2 |
RefSeq Acc Id: | XP_054210557 ⟸ XM_054354582 |
- Peptide Label: | isoform X5 |
RefSeq Acc Id: | XP_054210558 ⟸ XM_054354583 |
- Peptide Label: | isoform X6 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-Q7Z6J4-F1-model_v2 | AlphaFold | Q7Z6J4 | 1-655 | view protein structure |
RGD ID: | 6873052 | ||||||||
Promoter ID: | EPDNEW_H9691 | ||||||||
Type: | initiation region | ||||||||
Name: | FGD2_1 | ||||||||
Description: | FYVE, RhoGEF and PH domain containing 2 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
|
RGD ID: | 6804244 | ||||||||
Promoter ID: | HG_KWN:53396 | ||||||||
Type: | Non-CpG | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | K562, Lymphoblastoid | ||||||||
Transcripts: | ENST00000373535, NM_173558, UC003ONF.2, UC003ONG.2 | ||||||||
Position: |
|
RGD ID: | 6804232 | ||||||||
Promoter ID: | HG_KWN:53399 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | CD4+TCell, CD4+TCell_12Hour | ||||||||
Transcripts: | UC003ONJ.1 | ||||||||
Position: |
|
Database | Acc Id | Source(s) |
AGR Gene | HGNC:3664 | AgrOrtholog |
COSMIC | FGD2 | COSMIC |
Ensembl Genes | ENSG00000146192 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Ensembl Transcript | ENST00000274963 | ENTREZGENE |
ENST00000274963.13 | UniProtKB/Swiss-Prot | |
ENST00000373535.6 | UniProtKB/TrEMBL | |
Gene3D-CATH | 1.20.900.10 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
2.30.29.30 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
3.30.40.10 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
GTEx | ENSG00000146192 | GTEx |
HGNC ID | HGNC:3664 | ENTREZGENE |
Human Proteome Map | FGD2 | Human Proteome Map |
InterPro | DBL_dom_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
DH-domain | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
FGD1-4_PH2 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
FGD2_PH1 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
PH-like_dom_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
PH_domain | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Znf_FYVE | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Znf_FYVE-rel | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Znf_FYVE_PHD | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Znf_RING/FYVE/PHD | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
KEGG Report | hsa:221472 | UniProtKB/Swiss-Prot |
NCBI Gene | 221472 | ENTREZGENE |
OMIM | 605091 | OMIM |
PANTHER | FACIOGENITAL DYSPLASIA PROTEIN | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
FYVE, RHOGEF AND PH DOMAIN-CONTAINING PROTEIN 2 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Pfam | FYVE | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PF00169 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
RhoGEF | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
PharmGKB | PA28103 | PharmGKB |
PROSITE | DH_2 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PH_DOMAIN | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
ZF_FYVE | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
SMART | FYVE | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
RhoGEF | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
SM00233 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Superfamily-SCOP | PH domain-like | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
SSF48065 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
SSF57903 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
UniProt | A0A2X0SYZ7_HUMAN | UniProtKB/TrEMBL |
A0A384NQ05 | ENTREZGENE, UniProtKB/TrEMBL | |
FGD2_HUMAN | UniProtKB/Swiss-Prot | |
H7BY95_HUMAN | UniProtKB/TrEMBL | |
Q5T8I1 | ENTREZGENE | |
Q6P6A8 | ENTREZGENE | |
Q6ZNL5 | ENTREZGENE | |
Q7Z6J4 | ENTREZGENE | |
Q8IZ32 | ENTREZGENE | |
Q8N868 | ENTREZGENE | |
Q9H7M2 | ENTREZGENE | |
UniProt Secondary | Q5T8I1 | UniProtKB/Swiss-Prot |
Q6P6A8 | UniProtKB/Swiss-Prot | |
Q6ZNL5 | UniProtKB/Swiss-Prot | |
Q8IZ32 | UniProtKB/Swiss-Prot | |
Q8N868 | UniProtKB/Swiss-Prot | |
Q9H7M2 | UniProtKB/Swiss-Prot |