Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | adenoid cystic carcinoma | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:23685749 | |
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Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | adenoid cystic carcinoma | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:23685749 | |
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# | Reference Title | Reference Citation |
1. | GOAs Human GO annotations | GOA_HUMAN data from the GO Consortium |
2. | KEGG Annotation Import Pipeline | Pipeline to import KEGG annotations from KEGG into RGD |
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 |
PMID:1326521 | PMID:2249481 | PMID:2768234 | PMID:7649121 | PMID:7829525 | PMID:8916919 | PMID:10226785 | PMID:10329736 | PMID:10535406 | PMID:10640820 | PMID:14654552 | PMID:15629149 |
PMID:16195402 | PMID:18660489 | PMID:20734064 | PMID:21641549 | PMID:21873635 | PMID:22939624 | PMID:23220417 | PMID:23382219 | PMID:23824460 | PMID:24121506 | PMID:25597417 | PMID:28065597 |
PMID:29156593 | PMID:30898150 | PMID:31615897 | PMID:32296183 | PMID:32708676 | PMID:33111431 | PMID:33961781 | PMID:35384245 | PMID:36724073 | PMID:37099121 |
INSRR (Homo sapiens - human) |
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Insrr (Mus musculus - house mouse) |
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Insrr (Rattus norvegicus - Norway rat) |
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Insrr (Chinchilla lanigera - long-tailed chinchilla) |
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INSRR (Pan paniscus - bonobo/pygmy chimpanzee) |
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INSRR (Canis lupus familiaris - dog) |
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Insrr (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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INSRR (Sus scrofa - pig) |
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INSRR (Chlorocebus sabaeus - green monkey) |
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Insrr (Heterocephalus glaber - naked mole-rat) |
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Variants in INSRR
98 total Variants |
Name | Type | Condition(s) | Position(s) | Clinical significance |
GRCh38/hg38 1q23.1-23.3(chr1:156664483-160727411)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051851]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051851]|See cases [RCV000051851] | Chr1:156664483..160727411 [GRCh38] Chr1:156634275..160697201 [GRCh37] Chr1:154900899..158963825 [NCBI36] Chr1:1q23.1-23.3 |
pathogenic |
NM_014215.2(INSRR):c.3271G>A (p.Glu1091Lys) | single nucleotide variant | Malignant melanoma [RCV000059925] | Chr1:156842238 [GRCh38] Chr1:156812030 [GRCh37] Chr1:155078654 [NCBI36] Chr1:1q23.1 |
not provided |
NM_014215.3(INSRR):c.3484G>A (p.Glu1162Lys) | single nucleotide variant | Inborn genetic diseases [RCV003173028] | Chr1:156841708 [GRCh38] Chr1:156811500 [GRCh37] Chr1:1q23.1 |
uncertain significance |
NM_014215.3(INSRR):c.2062T>C (p.Cys688Arg) | single nucleotide variant | Inborn genetic diseases [RCV003188861] | Chr1:156845731 [GRCh38] Chr1:156815523 [GRCh37] Chr1:1q23.1 |
uncertain significance |
NM_014215.3(INSRR):c.229A>T (p.Thr77Ser) | single nucleotide variant | Inborn genetic diseases [RCV003184498] | Chr1:156854160 [GRCh38] Chr1:156823952 [GRCh37] Chr1:1q23.1 |
uncertain significance |
GRCh38/hg38 1q21.3-23.1(chr1:154566501-157624084)x3 | copy number gain | See cases [RCV000139902] | Chr1:154566501..157624084 [GRCh38] Chr1:154538977..157593874 [GRCh37] Chr1:152805601..155860498 [NCBI36] Chr1:1q21.3-23.1 |
pathogenic |
GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3 | copy number gain | See cases [RCV000143515] | Chr1:149854269..180267197 [GRCh38] Chr1:149825831..180236332 [GRCh37] Chr1:148092455..178502955 [NCBI36] Chr1:1q21.2-25.2 |
pathogenic |
NM_014215.3(INSRR):c.3237+45C>G | single nucleotide variant | not provided [RCV001547631] | Chr1:156842353 [GRCh38] Chr1:156812145 [GRCh37] Chr1:1q23.1 |
likely benign |
NM_014215.3(INSRR):c.584C>A (p.Thr195Asn) | single nucleotide variant | Inborn genetic diseases [RCV003196084] | Chr1:156853805 [GRCh38] Chr1:156823597 [GRCh37] Chr1:1q23.1 |
uncertain significance |
NM_014215.3(INSRR):c.818G>A (p.Arg273His) | single nucleotide variant | Inborn genetic diseases [RCV003191832] | Chr1:156852011 [GRCh38] Chr1:156821803 [GRCh37] Chr1:1q23.1 |
uncertain significance |
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 | copy number gain | See cases [RCV000510383] | Chr1:849467..249224684 [GRCh37] Chr1:1p36.33-q44 |
pathogenic |
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) | copy number gain | See cases [RCV000510926] | Chr1:849467..249224684 [GRCh37] Chr1:1p36.33-q44 |
pathogenic |
NM_014215.3(INSRR):c.1020G>A (p.Ala340=) | single nucleotide variant | not provided [RCV003312141] | Chr1:156851710 [GRCh38] Chr1:156821502 [GRCh37] Chr1:1q23.1 |
likely benign |
NM_014215.3(INSRR):c.3243C>A (p.Asn1081Lys) | single nucleotide variant | Inborn genetic diseases [RCV003277920] | Chr1:156842266 [GRCh38] Chr1:156812058 [GRCh37] Chr1:1q23.1 |
uncertain significance |
NM_014215.3(INSRR):c.905C>A (p.Ala302Asp) | single nucleotide variant | Inborn genetic diseases [RCV003271368] | Chr1:156851924 [GRCh38] Chr1:156821716 [GRCh37] Chr1:1q23.1 |
uncertain significance |
Single allele | inversion | Pediatric metastatic thyroid tumour [RCV000585807] | Chr1:154130985..156843877 [GRCh37] Chr1:1q21.3-23.1 |
likely pathogenic |
NM_014215.3(INSRR):c.3158A>G (p.Gln1053Arg) | single nucleotide variant | Inborn genetic diseases [RCV003304650] | Chr1:156842477 [GRCh38] Chr1:156812269 [GRCh37] Chr1:1q23.1 |
uncertain significance |
NM_014215.3(INSRR):c.2668G>A (p.Val890Ile) | single nucleotide variant | Inborn genetic diseases [RCV003255434] | Chr1:156844531 [GRCh38] Chr1:156814323 [GRCh37] Chr1:1q23.1 |
uncertain significance |
NM_014215.3(INSRR):c.3397+17G>T | single nucleotide variant | Hereditary insensitivity to pain with anhidrosis [RCV000670814] | Chr1:156842095 [GRCh38] Chr1:156811887 [GRCh37] Chr1:1q23.1 |
uncertain significance |
NM_014215.3(INSRR):c.3397+8G>T | single nucleotide variant | Hereditary insensitivity to pain with anhidrosis [RCV000667449] | Chr1:156842104 [GRCh38] Chr1:156811896 [GRCh37] Chr1:1q23.1 |
uncertain significance |
GRCh37/hg19 1q22-23.1(chr1:155636337-158024499)x1 | copy number loss | not provided [RCV000684658] | Chr1:155636337..158024499 [GRCh37] Chr1:1q22-23.1 |
pathogenic |
GRCh37/hg19 1q22-23.1(chr1:155999570-156844432)x3 | copy number gain | not provided [RCV000684659] | Chr1:155999570..156844432 [GRCh37] Chr1:1q22-23.1 |
uncertain significance |
NM_014215.3(INSRR):c.3397+9G>A | single nucleotide variant | Familial medullary thyroid carcinoma [RCV000708801]|Hereditary insensitivity to pain with anhidrosis [RCV000986435] | Chr1:156842103 [GRCh38] Chr1:156811895 [GRCh37] Chr1:1q23.1 |
uncertain significance |
NM_014215.3(INSRR):c.3397+4del | deletion | Familial medullary thyroid carcinoma [RCV000708802] | Chr1:156842108 [GRCh38] Chr1:156811900 [GRCh37] Chr1:1q23.1 |
uncertain significance |
NM_014215.3(INSRR):c.3319G>T (p.Ala1107Ser) | single nucleotide variant | Familial medullary thyroid carcinoma [RCV000708803]|not provided [RCV001726315] | Chr1:156842190 [GRCh38] Chr1:156811982 [GRCh37] Chr1:1q23.1 |
uncertain significance |
NM_014215.3(INSRR):c.3537dup (p.Val1180fs) | duplication | Familial medullary thyroid carcinoma [RCV000708800] | Chr1:156841518..156841519 [GRCh38] Chr1:156811310..156811311 [GRCh37] Chr1:1q23.1 |
uncertain significance |
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 | copy number gain | not provided [RCV000736295] | Chr1:47851..249228449 [GRCh37] Chr1:1p36.33-q44 |
pathogenic |
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 | copy number gain | not provided [RCV000736305] | Chr1:82154..249218992 [GRCh37] Chr1:1p36.33-q44 |
pathogenic |
LMNA-NTRK1 fusion | fusion | Congenital fibrosarcoma [RCV000754610] | Chr1:156100565..156844697 [GRCh37] Chr1:1q22-23.1 |
pathogenic |
NM_014215.3(INSRR):c.3397+98G>C | single nucleotide variant | not provided [RCV001585503] | Chr1:156842014 [GRCh38] Chr1:156811806 [GRCh37] Chr1:1q23.1 |
likely benign |
NM_014215.3(INSRR):c.3265T>C (p.Leu1089=) | single nucleotide variant | not provided [RCV001532552] | Chr1:156842244 [GRCh38] Chr1:156812036 [GRCh37] Chr1:1q23.1 |
likely benign |
NM_014215.3(INSRR):c.1281C>G (p.Ser427=) | single nucleotide variant | not provided [RCV000905951] | Chr1:156849409 [GRCh38] Chr1:156819201 [GRCh37] Chr1:1q23.1 |
benign |
NM_014215.3(INSRR):c.3513C>T (p.Thr1171=) | single nucleotide variant | not provided [RCV000902371] | Chr1:156841679 [GRCh38] Chr1:156811471 [GRCh37] Chr1:1q23.1 |
likely benign |
NM_014215.3(INSRR):c.1113C>T (p.Ser371=) | single nucleotide variant | not provided [RCV000883961] | Chr1:156851406 [GRCh38] Chr1:156821198 [GRCh37] Chr1:1q23.1 |
benign |
NM_014215.3(INSRR):c.2783C>T (p.Pro928Leu) | single nucleotide variant | Hereditary insensitivity to pain with anhidrosis [RCV000986436] | Chr1:156844235 [GRCh38] Chr1:156814027 [GRCh37] Chr1:1q23.1 |
benign |
NM_014215.3(INSRR):c.259C>T (p.Arg87Cys) | single nucleotide variant | not provided [RCV000917574] | Chr1:156854130 [GRCh38] Chr1:156823922 [GRCh37] Chr1:1q23.1 |
likely benign |
NM_014215.3(INSRR):c.775C>T (p.Leu259=) | single nucleotide variant | not provided [RCV000896316] | Chr1:156852054 [GRCh38] Chr1:156821846 [GRCh37] Chr1:1q23.1 |
likely benign |
NM_014215.3(INSRR):c.3761T>C (p.Phe1254Ser) | single nucleotide variant | Hereditary insensitivity to pain with anhidrosis [RCV000986434] | Chr1:156841006 [GRCh38] Chr1:156810798 [GRCh37] Chr1:1q23.1 |
uncertain significance |
NM_014215.3(INSRR):c.1660C>T (p.Arg554Cys) | single nucleotide variant | Hereditary insensitivity to pain with anhidrosis [RCV000986437]|not provided [RCV003411926] | Chr1:156846669 [GRCh38] Chr1:156816461 [GRCh37] Chr1:1q23.1 |
likely benign |
NM_014215.3(INSRR):c.736T>C (p.Cys246Arg) | single nucleotide variant | Hereditary insensitivity to pain with anhidrosis [RCV000986438]|not provided [RCV002511009] | Chr1:156852093 [GRCh38] Chr1:156821885 [GRCh37] Chr1:1q23.1 |
likely benign |
NM_014215.3(INSRR):c.223C>T (p.Arg75Cys) | single nucleotide variant | Inborn genetic diseases [RCV003247944] | Chr1:156854166 [GRCh38] Chr1:156823958 [GRCh37] Chr1:1q23.1 |
uncertain significance |
NM_014215.3(INSRR):c.1786G>A (p.Val596Ile) | single nucleotide variant | Inborn genetic diseases [RCV003251422]|not provided [RCV003410317] | Chr1:156846543 [GRCh38] Chr1:156816335 [GRCh37] Chr1:1q23.1 |
likely benign |
NM_014215.3(INSRR):c.1891C>A (p.Arg631Ser) | single nucleotide variant | Inborn genetic diseases [RCV003270771] | Chr1:156846039 [GRCh38] Chr1:156815831 [GRCh37] Chr1:1q23.1 |
uncertain significance |
NM_014215.3(INSRR):c.3028G>A (p.Val1010Met) | single nucleotide variant | Inborn genetic diseases [RCV003290787] | Chr1:156843102 [GRCh38] Chr1:156812894 [GRCh37] Chr1:1q23.1 |
uncertain significance |
NM_014215.3(INSRR):c.2289G>A (p.Gln763=) | single nucleotide variant | not provided [RCV000974863] | Chr1:156845224 [GRCh38] Chr1:156815016 [GRCh37] Chr1:1q23.1 |
benign |
NM_014215.3(INSRR):c.1811-5C>T | single nucleotide variant | not provided [RCV000911054] | Chr1:156846124 [GRCh38] Chr1:156815916 [GRCh37] Chr1:1q23.1 |
benign |
NM_014215.3(INSRR):c.3663-5A>G | single nucleotide variant | not provided [RCV000955791] | Chr1:156841109 [GRCh38] Chr1:156810901 [GRCh37] Chr1:1q23.1 |
benign |
NM_014215.3(INSRR):c.835C>T (p.Arg279Cys) | single nucleotide variant | not provided [RCV000912685] | Chr1:156851994 [GRCh38] Chr1:156821786 [GRCh37] Chr1:1q23.1 |
likely benign |
NM_014215.3(INSRR):c.260G>A (p.Arg87His) | single nucleotide variant | Inborn genetic diseases [RCV003309810] | Chr1:156854129 [GRCh38] Chr1:156823921 [GRCh37] Chr1:1q23.1 |
uncertain significance |
NM_014215.3(INSRR):c.1785C>T (p.Ile595=) | single nucleotide variant | not provided [RCV001532554] | Chr1:156846544 [GRCh38] Chr1:156816336 [GRCh37] Chr1:1q23.1 |
likely benign |
NC_000001.10:g.(?_130980840)_(248900000_?)dup | duplication | Gastrointestinal stromal tumor [RCV001300221]|Parathyroid carcinoma [RCV001341077] | Chr1:130980840..248900000 [GRCh37] Chr1:1q12-44 |
uncertain significance |
NM_014215.3(INSRR):c.2796G>A (p.Thr932=) | single nucleotide variant | not provided [RCV001532553] | Chr1:156844222 [GRCh38] Chr1:156814014 [GRCh37] Chr1:1q23.1 |
likely benign |
NM_014215.3(INSRR):c.406C>T (p.Arg136Cys) | single nucleotide variant | not provided [RCV001532555] | Chr1:156853983 [GRCh38] Chr1:156823775 [GRCh37] Chr1:1q23.1 |
uncertain significance |
NM_014215.3(INSRR):c.3397+23G>A | single nucleotide variant | Hereditary insensitivity to pain with anhidrosis [RCV003120119] | Chr1:156842089 [GRCh38] Chr1:156811881 [GRCh37] Chr1:1q23.1 |
likely benign |
NM_014215.3(INSRR):c.3366G>C (p.Met1122Ile) | single nucleotide variant | not provided [RCV001767458] | Chr1:156842143 [GRCh38] Chr1:156811935 [GRCh37] Chr1:1q23.1 |
uncertain significance |
NM_014215.3(INSRR):c.2454T>A (p.Ile818=) | single nucleotide variant | not provided [RCV001816066] | Chr1:156844827 [GRCh38] Chr1:156814619 [GRCh37] Chr1:1q23.1 |
likely benign |
NM_014215.3(INSRR):c.2250C>T (p.Pro750=) | single nucleotide variant | not provided [RCV001815684] | Chr1:156845263 [GRCh38] Chr1:156815055 [GRCh37] Chr1:1q23.1 |
likely benign |
NC_000001.10:g.(?_155581953)_(156851434_?)del | deletion | Charcot-Marie-Tooth disease type 2 [RCV001983077] | Chr1:155581953..156851434 [GRCh37] Chr1:1q22-23.1 |
pathogenic |
GRCh37/hg19 1q23.1(chr1:156665257-156902706)x1 | copy number loss | not provided [RCV001829219] | Chr1:156665257..156902706 [GRCh37] Chr1:1q23.1 |
uncertain significance |
NC_000001.10:g.(?_149895434)_(156851434_?)dup | duplication | Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001958273]|Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001958271]|Kostmann syndrome [RCV003120769]|MHC class II deficiency [RCV001992607] | Chr1:149895434..156851434 [GRCh37] Chr1:1q21.2-23.1 |
uncertain significance |
NC_000001.10:g.(?_154141761)_(156851434_?)dup | duplication | Charcot-Marie-Tooth disease type 2 [RCV001990060] | Chr1:154141761..156851434 [GRCh37] Chr1:1q21.3-23.1 |
uncertain significance |
NM_014215.3(INSRR):c.1215C>T (p.Asp405=) | single nucleotide variant | not provided [RCV002211116] | Chr1:156851304 [GRCh38] Chr1:156821096 [GRCh37] Chr1:1q23.1 |
likely benign |
NM_014215.3(INSRR):c.3789G>A (p.Pro1263=) | single nucleotide variant | not provided [RCV002211115] | Chr1:156840978 [GRCh38] Chr1:156810770 [GRCh37] Chr1:1q23.1 |
likely benign |
NM_014215.3(INSRR):c.1945G>A (p.Gly649Ser) | single nucleotide variant | Inborn genetic diseases [RCV003305783] | Chr1:156845985 [GRCh38] Chr1:156815777 [GRCh37] Chr1:1q23.1 |
likely benign |
NM_014215.3(INSRR):c.3538G>C (p.Val1180Leu) | single nucleotide variant | Inborn genetic diseases [RCV003280247] | Chr1:156841518 [GRCh38] Chr1:156811310 [GRCh37] Chr1:1q23.1 |
uncertain significance |
NM_014215.3(INSRR):c.3857G>A (p.Arg1286Lys) | single nucleotide variant | Inborn genetic diseases [RCV003275944] | Chr1:156840910 [GRCh38] Chr1:156810702 [GRCh37] Chr1:1q23.1 |
likely benign |
NM_014215.3(INSRR):c.879C>T (p.Phe293=) | single nucleotide variant | not provided [RCV002262252] | Chr1:156851950 [GRCh38] Chr1:156821742 [GRCh37] Chr1:1q23.1 |
likely benign |
NM_014215.3(INSRR):c.789G>A (p.Pro263=) | single nucleotide variant | not provided [RCV002262253] | Chr1:156852040 [GRCh38] Chr1:156821832 [GRCh37] Chr1:1q23.1 |
likely benign |
NM_014215.3(INSRR):c.2700T>G (p.Ser900=) | single nucleotide variant | not provided [RCV002262251] | Chr1:156844499 [GRCh38] Chr1:156814291 [GRCh37] Chr1:1q23.1 |
likely benign |
NM_014215.3(INSRR):c.56C>T (p.Ser19Phe) | single nucleotide variant | not provided [RCV002511597] | Chr1:156858566 [GRCh38] Chr1:156828358 [GRCh37] Chr1:1q23.1 |
likely benign |
NM_014215.3(INSRR):c.376G>A (p.Val126Met) | single nucleotide variant | Inborn genetic diseases [RCV002974672] | Chr1:156854013 [GRCh38] Chr1:156823805 [GRCh37] Chr1:1q23.1 |
uncertain significance |
NM_014215.3(INSRR):c.535G>A (p.Val179Met) | single nucleotide variant | Inborn genetic diseases [RCV002997809] | Chr1:156853854 [GRCh38] Chr1:156823646 [GRCh37] Chr1:1q23.1 |
uncertain significance |
NM_014215.3(INSRR):c.2525C>T (p.Pro842Leu) | single nucleotide variant | Inborn genetic diseases [RCV002947015] | Chr1:156844756 [GRCh38] Chr1:156814548 [GRCh37] Chr1:1q23.1 |
uncertain significance |
NM_014215.3(INSRR):c.1948G>T (p.Asp650Tyr) | single nucleotide variant | Inborn genetic diseases [RCV002818716] | Chr1:156845982 [GRCh38] Chr1:156815774 [GRCh37] Chr1:1q23.1 |
uncertain significance |
NM_014215.3(INSRR):c.201C>T (p.Asp67=) | single nucleotide variant | not provided [RCV002511596] | Chr1:156854188 [GRCh38] Chr1:156823980 [GRCh37] Chr1:1q23.1 |
likely benign |
NM_014215.3(INSRR):c.1883C>G (p.Pro628Arg) | single nucleotide variant | Inborn genetic diseases [RCV002974041] | Chr1:156846047 [GRCh38] Chr1:156815839 [GRCh37] Chr1:1q23.1 |
uncertain significance |
NM_014215.3(INSRR):c.524A>G (p.Glu175Gly) | single nucleotide variant | Inborn genetic diseases [RCV002773308] | Chr1:156853865 [GRCh38] Chr1:156823657 [GRCh37] Chr1:1q23.1 |
uncertain significance |
NM_014215.3(INSRR):c.3188C>A (p.Thr1063Asn) | single nucleotide variant | Inborn genetic diseases [RCV002858905] | Chr1:156842447 [GRCh38] Chr1:156812239 [GRCh37] Chr1:1q23.1 |
uncertain significance |
NM_014215.3(INSRR):c.3625G>A (p.Gly1209Arg) | single nucleotide variant | Inborn genetic diseases [RCV002733912] | Chr1:156841431 [GRCh38] Chr1:156811223 [GRCh37] Chr1:1q23.1 |
uncertain significance |
NM_014215.3(INSRR):c.3286G>A (p.Ala1096Thr) | single nucleotide variant | Inborn genetic diseases [RCV002794511] | Chr1:156842223 [GRCh38] Chr1:156812015 [GRCh37] Chr1:1q23.1 |
uncertain significance |
NM_014215.3(INSRR):c.2468C>T (p.Ala823Val) | single nucleotide variant | Inborn genetic diseases [RCV002783748] | Chr1:156844813 [GRCh38] Chr1:156814605 [GRCh37] Chr1:1q23.1 |
uncertain significance |
NM_014215.3(INSRR):c.1141T>C (p.Phe381Leu) | single nucleotide variant | Inborn genetic diseases [RCV002707512] | Chr1:156851378 [GRCh38] Chr1:156821170 [GRCh37] Chr1:1q23.1 |
uncertain significance |
NM_014215.3(INSRR):c.2887G>A (p.Ala963Thr) | single nucleotide variant | Inborn genetic diseases [RCV002706953] | Chr1:156843436 [GRCh38] Chr1:156813228 [GRCh37] Chr1:1q23.1 |
uncertain significance |
NM_014215.3(INSRR):c.1796G>A (p.Arg599Gln) | single nucleotide variant | Inborn genetic diseases [RCV002998578] | Chr1:156846533 [GRCh38] Chr1:156816325 [GRCh37] Chr1:1q23.1 |
uncertain significance |
NM_014215.3(INSRR):c.3538G>A (p.Val1180Met) | single nucleotide variant | Inborn genetic diseases [RCV002978337] | Chr1:156841518 [GRCh38] Chr1:156811310 [GRCh37] Chr1:1q23.1 |
uncertain significance |
NM_014215.3(INSRR):c.1043C>T (p.Thr348Met) | single nucleotide variant | Inborn genetic diseases [RCV002869498] | Chr1:156851687 [GRCh38] Chr1:156821479 [GRCh37] Chr1:1q23.1 |
uncertain significance |
NM_014215.3(INSRR):c.2423G>T (p.Arg808Leu) | single nucleotide variant | Inborn genetic diseases [RCV002887064] | Chr1:156845090 [GRCh38] Chr1:156814882 [GRCh37] Chr1:1q23.1 |
uncertain significance |
NM_014215.3(INSRR):c.1979G>A (p.Gly660Asp) | single nucleotide variant | Inborn genetic diseases [RCV002821956] | Chr1:156845814 [GRCh38] Chr1:156815606 [GRCh37] Chr1:1q23.1 |
uncertain significance |
NM_014215.3(INSRR):c.1043C>A (p.Thr348Lys) | single nucleotide variant | Inborn genetic diseases [RCV002694743] | Chr1:156851687 [GRCh38] Chr1:156821479 [GRCh37] Chr1:1q23.1 |
uncertain significance |
NM_014215.3(INSRR):c.1388G>T (p.Arg463Leu) | single nucleotide variant | Inborn genetic diseases [RCV002739494] | Chr1:156849302 [GRCh38] Chr1:156819094 [GRCh37] Chr1:1q23.1 |
uncertain significance |
NM_014215.3(INSRR):c.2362C>A (p.His788Asn) | single nucleotide variant | Inborn genetic diseases [RCV002691367] | Chr1:156845151 [GRCh38] Chr1:156814943 [GRCh37] Chr1:1q23.1 |
uncertain significance |
NM_014215.3(INSRR):c.2477C>T (p.Ala826Val) | single nucleotide variant | Inborn genetic diseases [RCV002826866] | Chr1:156844804 [GRCh38] Chr1:156814596 [GRCh37] Chr1:1q23.1 |
uncertain significance |
NM_014215.3(INSRR):c.29G>A (p.Gly10Glu) | single nucleotide variant | Inborn genetic diseases [RCV002854265] | Chr1:156858593 [GRCh38] Chr1:156828385 [GRCh37] Chr1:1q23.1 |
uncertain significance |
NM_014215.3(INSRR):c.2709C>G (p.Asp903Glu) | single nucleotide variant | Inborn genetic diseases [RCV002645296] | Chr1:156844490 [GRCh38] Chr1:156814282 [GRCh37] Chr1:1q23.1 |
uncertain significance |
NM_014215.3(INSRR):c.917C>G (p.Ser306Cys) | single nucleotide variant | Inborn genetic diseases [RCV002916219] | Chr1:156851912 [GRCh38] Chr1:156821704 [GRCh37] Chr1:1q23.1 |
uncertain significance |
NM_014215.3(INSRR):c.3805C>T (p.Arg1269Trp) | single nucleotide variant | Inborn genetic diseases [RCV003004067] | Chr1:156840962 [GRCh38] Chr1:156810754 [GRCh37] Chr1:1q23.1 |
uncertain significance |
NM_014215.3(INSRR):c.3751C>T (p.Arg1251Trp) | single nucleotide variant | Inborn genetic diseases [RCV002805200] | Chr1:156841016 [GRCh38] Chr1:156810808 [GRCh37] Chr1:1q23.1 |
uncertain significance |
NM_014215.3(INSRR):c.1736C>G (p.Thr579Arg) | single nucleotide variant | Inborn genetic diseases [RCV002641253] | Chr1:156846593 [GRCh38] Chr1:156816385 [GRCh37] Chr1:1q23.1 |
uncertain significance |
NM_014215.3(INSRR):c.2504G>T (p.Arg835Leu) | single nucleotide variant | Inborn genetic diseases [RCV002849729] | Chr1:156844777 [GRCh38] Chr1:156814569 [GRCh37] Chr1:1q23.1 |
uncertain significance |
NM_014215.3(INSRR):c.3470G>T (p.Arg1157Leu) | single nucleotide variant | Inborn genetic diseases [RCV002747968] | Chr1:156841722 [GRCh38] Chr1:156811514 [GRCh37] Chr1:1q23.1 |
uncertain significance |
NM_014215.3(INSRR):c.3736A>T (p.Ile1246Leu) | single nucleotide variant | Inborn genetic diseases [RCV002935815] | Chr1:156841031 [GRCh38] Chr1:156810823 [GRCh37] Chr1:1q23.1 |
uncertain significance |
NM_014215.3(INSRR):c.3748C>A (p.Leu1250Met) | single nucleotide variant | Inborn genetic diseases [RCV002672650] | Chr1:156841019 [GRCh38] Chr1:156810811 [GRCh37] Chr1:1q23.1 |
uncertain significance |
NM_014215.3(INSRR):c.2659T>G (p.Ser887Ala) | single nucleotide variant | Inborn genetic diseases [RCV002831712] | Chr1:156844540 [GRCh38] Chr1:156814332 [GRCh37] Chr1:1q23.1 |
uncertain significance |
NM_014215.3(INSRR):c.127C>T (p.Arg43Cys) | single nucleotide variant | Inborn genetic diseases [RCV002987889] | Chr1:156854262 [GRCh38] Chr1:156824054 [GRCh37] Chr1:1q23.1 |
uncertain significance |
NM_014215.3(INSRR):c.2503C>T (p.Arg835Cys) | single nucleotide variant | Inborn genetic diseases [RCV002921256] | Chr1:156844778 [GRCh38] Chr1:156814570 [GRCh37] Chr1:1q23.1 |
uncertain significance |
NM_014215.3(INSRR):c.547G>A (p.Val183Met) | single nucleotide variant | Inborn genetic diseases [RCV002807884] | Chr1:156853842 [GRCh38] Chr1:156823634 [GRCh37] Chr1:1q23.1 |
uncertain significance |
NM_014215.3(INSRR):c.992G>T (p.Gly331Val) | single nucleotide variant | Inborn genetic diseases [RCV002680238] | Chr1:156851738 [GRCh38] Chr1:156821530 [GRCh37] Chr1:1q23.1 |
uncertain significance |
NM_014215.3(INSRR):c.2086G>A (p.Gly696Ser) | single nucleotide variant | Inborn genetic diseases [RCV002680166] | Chr1:156845707 [GRCh38] Chr1:156815499 [GRCh37] Chr1:1q23.1 |
uncertain significance |
NM_014215.3(INSRR):c.3880G>T (p.Gly1294Cys) | single nucleotide variant | Inborn genetic diseases [RCV002724765] | Chr1:156840887 [GRCh38] Chr1:156810679 [GRCh37] Chr1:1q23.1 |
uncertain significance |
NM_014215.3(INSRR):c.407G>A (p.Arg136His) | single nucleotide variant | Inborn genetic diseases [RCV002722525] | Chr1:156853982 [GRCh38] Chr1:156823774 [GRCh37] Chr1:1q23.1 |
uncertain significance |
NM_014215.3(INSRR):c.748C>T (p.Arg250Cys) | single nucleotide variant | Inborn genetic diseases [RCV002677167] | Chr1:156852081 [GRCh38] Chr1:156821873 [GRCh37] Chr1:1q23.1 |
uncertain significance |
NM_014215.3(INSRR):c.3601G>T (p.Val1201Leu) | single nucleotide variant | Inborn genetic diseases [RCV003218779] | Chr1:156841455 [GRCh38] Chr1:156811247 [GRCh37] Chr1:1q23.1 |
uncertain significance |
NM_014215.3(INSRR):c.285C>T (p.Arg95=) | single nucleotide variant | not provided [RCV003222640] | Chr1:156854104 [GRCh38] Chr1:156823896 [GRCh37] Chr1:1q23.1 |
likely benign |
NM_014215.3(INSRR):c.430A>G (p.Asn144Asp) | single nucleotide variant | Inborn genetic diseases [RCV003197252] | Chr1:156853959 [GRCh38] Chr1:156823751 [GRCh37] Chr1:1q23.1 |
uncertain significance |
NM_014215.3(INSRR):c.380C>A (p.Ala127Glu) | single nucleotide variant | not provided [RCV003334110] | Chr1:156854009 [GRCh38] Chr1:156823801 [GRCh37] Chr1:1q23.1 |
likely benign |
GRCh37/hg19 1q12-23.1(chr1:142535935-157648813)x3 | copy number gain | Chromosome 1q21.1 duplication syndrome [RCV003329522] | Chr1:142535935..157648813 [GRCh37] Chr1:1q12-23.1 |
pathogenic |
NM_014215.3(INSRR):c.2905C>A (p.Pro969Thr) | single nucleotide variant | Inborn genetic diseases [RCV003341410] | Chr1:156843225 [GRCh38] Chr1:156813017 [GRCh37] Chr1:1q23.1 |
uncertain significance |
NM_014215.3(INSRR):c.1006G>A (p.Asp336Asn) | single nucleotide variant | Inborn genetic diseases [RCV003384721] | Chr1:156851724 [GRCh38] Chr1:156821516 [GRCh37] Chr1:1q23.1 |
uncertain significance |
NM_014215.3(INSRR):c.2515C>A (p.Pro839Thr) | single nucleotide variant | Inborn genetic diseases [RCV003373979] | Chr1:156844766 [GRCh38] Chr1:156814558 [GRCh37] Chr1:1q23.1 |
uncertain significance |
NM_014215.3(INSRR):c.2171C>T (p.Pro724Leu) | single nucleotide variant | Inborn genetic diseases [RCV003343190] | Chr1:156845622 [GRCh38] Chr1:156815414 [GRCh37] Chr1:1q23.1 |
uncertain significance |
NM_014215.3(INSRR):c.3190C>T (p.Arg1064Cys) | single nucleotide variant | Inborn genetic diseases [RCV003353781] | Chr1:156842445 [GRCh38] Chr1:156812237 [GRCh37] Chr1:1q23.1 |
uncertain significance |
NM_014215.3(INSRR):c.3339C>T (p.His1113=) | single nucleotide variant | not provided [RCV003409158] | Chr1:156842170 [GRCh38] Chr1:156811962 [GRCh37] Chr1:1q23.1 |
likely benign |
NM_014215.3(INSRR):c.3042G>A (p.Thr1014=) | single nucleotide variant | not provided [RCV003409159] | Chr1:156843088 [GRCh38] Chr1:156812880 [GRCh37] Chr1:1q23.1 |
likely benign |
NM_014215.3(INSRR):c.534C>T (p.Asp178=) | single nucleotide variant | not provided [RCV003409160] | Chr1:156853855 [GRCh38] Chr1:156823647 [GRCh37] Chr1:1q23.1 |
likely benign |
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. |
D1S1179 |
|
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 | 7 | 4 | 2 | 20 | 7 | 13 | 10 | 1 | 2 | |||||||||
Low | 523 | 107 | 522 | 15 | 51 | 7 | 354 | 133 | 1367 | 183 | 876 | 262 | 8 | 1 | 467 | 290 | 1 | 1 |
Below cutoff | 1739 | 2616 | 964 | 424 | 1246 | 274 | 3518 | 2005 | 2214 | 88 | 435 | 1117 | 154 | 721 | 2267 | 2 |
RefSeq Transcripts | NG_007493 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_014215 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AF064078 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AK310760 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AL158169 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH471121 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CP068277 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
J05046 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
JQ991924 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENST00000368195 ⟹ ENSP00000357178 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | NM_014215 ⟹ NP_055030 | ||||||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
|
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Sequence: |
Protein RefSeqs | NP_055030 | (Get FASTA) | NCBI Sequence Viewer |
GenBank Protein | AAC17167 | (Get FASTA) | NCBI Sequence Viewer |
AAC31759 | (Get FASTA) | NCBI Sequence Viewer | |
AFM93766 | (Get FASTA) | NCBI Sequence Viewer | |
EAW52903 | (Get FASTA) | NCBI Sequence Viewer | |
EAW52904 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSP00000357178 | ||
ENSP00000357178.3 | |||
GenBank Protein | P14616 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_055030 ⟸ NM_014215 |
- Peptide Label: | precursor |
- UniProtKB: | O60724 (UniProtKB/Swiss-Prot), Q5VZS3 (UniProtKB/Swiss-Prot), P14616 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | ENSP00000357178 ⟸ ENST00000368195 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-P14616-F1-model_v2 | AlphaFold | P14616 | 1-1297 | view protein structure |
RGD ID: | 6785790 | ||||||||
Promoter ID: | HG_KWN:5580 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | K562 | ||||||||
Transcripts: | OTTHUMT00000098929, UC009WSJ.1 | ||||||||
Position: |
|
RGD ID: | 6857632 | ||||||||
Promoter ID: | EPDNEW_H1981 | ||||||||
Type: | initiation region | ||||||||
Name: | INSRR_1 | ||||||||
Description: | insulin receptor related receptor | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
|
Database | Acc Id | Source(s) |
AGR Gene | HGNC:6093 | AgrOrtholog |
COSMIC | INSRR | COSMIC |
Ensembl Genes | ENSG00000027644 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot |
Ensembl Transcript | ENST00000368195 | ENTREZGENE |
ENST00000368195.4 | UniProtKB/Swiss-Prot | |
Gene3D-CATH | 2.60.40.10 | UniProtKB/Swiss-Prot |
3.80.20.20 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Transferase(Phosphotransferase) domain 1 | UniProtKB/Swiss-Prot | |
GTEx | ENSG00000027644 | GTEx |
HGNC ID | HGNC:6093 | ENTREZGENE |
Human Proteome Map | INSRR | Human Proteome Map |
InterPro | FN3_dom | UniProtKB/Swiss-Prot |
FN3_sf | UniProtKB/Swiss-Prot | |
Furin-like_Cys-rich_dom | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Furin_repeat | UniProtKB/Swiss-Prot | |
Growth_fac_rcpt_cys_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Ig-like_fold | UniProtKB/Swiss-Prot | |
Kinase-like_dom_sf | UniProtKB/Swiss-Prot | |
Prot_kinase_dom | UniProtKB/Swiss-Prot | |
Protein_kinase_ATP_BS | UniProtKB/Swiss-Prot | |
Rcpt_L-dom | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Rcpt_L-dom_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Ser-Thr/Tyr_kinase_cat_dom | UniProtKB/Swiss-Prot | |
Tyr_kinase_AS | UniProtKB/Swiss-Prot | |
Tyr_kinase_cat_dom | UniProtKB/Swiss-Prot | |
Tyr_kinase_insulin-like_rcpt | UniProtKB/Swiss-Prot | |
Tyr_kinase_rcpt_2_CS | UniProtKB/Swiss-Prot | |
KEGG Report | hsa:3645 | UniProtKB/Swiss-Prot |
NCBI Gene | 3645 | ENTREZGENE |
OMIM | 147671 | OMIM |
PANTHER | PTHR24416:SF338 | UniProtKB/Swiss-Prot |
TYROSINE-PROTEIN KINASE RECEPTOR | UniProtKB/Swiss-Prot | |
Pfam | Furin-like | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Pkinase_Tyr | UniProtKB/Swiss-Prot | |
Recep_L_domain | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
PharmGKB | PA29899 | PharmGKB |
PIRSF | Insulin_receptor | UniProtKB/Swiss-Prot |
PRINTS | TYRKINASE | UniProtKB/Swiss-Prot |
PROSITE | FN3 | UniProtKB/Swiss-Prot |
PROTEIN_KINASE_ATP | UniProtKB/Swiss-Prot | |
PROTEIN_KINASE_DOM | UniProtKB/Swiss-Prot | |
PROTEIN_KINASE_TYR | UniProtKB/Swiss-Prot | |
RECEPTOR_TYR_KIN_II | UniProtKB/Swiss-Prot | |
SMART | FN3 | UniProtKB/Swiss-Prot |
SM00261 | UniProtKB/Swiss-Prot | |
TyrKc | UniProtKB/Swiss-Prot | |
Superfamily-SCOP | L domain-like | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
SSF49265 | UniProtKB/Swiss-Prot | |
SSF56112 | UniProtKB/Swiss-Prot | |
SSF57184 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
UniProt | I6U4P1_HUMAN | UniProtKB/TrEMBL |
INSRR_HUMAN | UniProtKB/Swiss-Prot | |
O60724 | ENTREZGENE | |
P14616 | ENTREZGENE | |
Q5VZS3 | ENTREZGENE | |
UniProt Secondary | O60724 | UniProtKB/Swiss-Prot |
Q5VZS3 | UniProtKB/Swiss-Prot |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
---|---|---|---|---|---|---|---|
2016-04-12 | INSRR | insulin receptor related receptor | insulin receptor-related receptor | Symbol and/or name change | 5135510 | APPROVED |