FAM221B (family with sequence similarity 221 member B) - Rat Genome Database

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Gene: FAM221B (family with sequence similarity 221 member B) Homo sapiens
Analyze
Symbol: FAM221B
Name: family with sequence similarity 221 member B
RGD ID: 1321320
HGNC Page HGNC:30762
Description: ASSOCIATED WITH acromesomelic dysplasia, Maroteaux type; anauxetic dysplasia; autosomal recessive distal hereditary motor neuronopathy 2; INTERACTS WITH aflatoxin B1; antirheumatic drug; benzo[a]pyrene (ortholog)
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: C9orf128; family with sequence similarity 221, member B; hypothetical protein LOC392307; uncharacterized protein C9orf128
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38935,816,391 - 35,828,732 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl935,816,391 - 35,828,747 (-)EnsemblGRCh38hg38GRCh38
GRCh37935,816,388 - 35,828,729 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36935,808,429 - 35,818,744 (-)NCBINCBI36Build 36hg18NCBI36
Celera935,750,546 - 35,762,276 (-)NCBICelera
Cytogenetic Map9p13.3NCBI
HuRef935,773,026 - 35,784,685 (-)NCBIHuRef
CHM1_1935,817,402 - 35,829,132 (-)NCBICHM1_1
T2T-CHM13v2.0935,837,059 - 35,849,403 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:11207361   PMID:12477932   PMID:28514442   PMID:32296183   PMID:33961781  


Genomics

Comparative Map Data
FAM221B
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38935,816,391 - 35,828,732 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl935,816,391 - 35,828,747 (-)EnsemblGRCh38hg38GRCh38
GRCh37935,816,388 - 35,828,729 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36935,808,429 - 35,818,744 (-)NCBINCBI36Build 36hg18NCBI36
Celera935,750,546 - 35,762,276 (-)NCBICelera
Cytogenetic Map9p13.3NCBI
HuRef935,773,026 - 35,784,685 (-)NCBIHuRef
CHM1_1935,817,402 - 35,829,132 (-)NCBICHM1_1
T2T-CHM13v2.0935,837,059 - 35,849,403 (-)NCBIT2T-CHM13v2.0
Fam221b
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39443,659,622 - 43,668,859 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl443,659,622 - 43,669,145 (-)EnsemblGRCm39 Ensembl
GRCm38443,659,622 - 43,668,859 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl443,659,622 - 43,669,145 (-)EnsemblGRCm38mm10GRCm38
MGSCv37443,672,494 - 43,681,731 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36443,680,722 - 43,689,959 (-)NCBIMGSCv36mm8
Celera443,694,227 - 43,703,464 (-)NCBICelera
Cytogenetic Map4A5NCBI
cM Map423.05NCBI
Fam221b
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8562,706,118 - 62,715,339 (-)NCBIGRCr8
mRatBN7.2557,910,346 - 57,919,562 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl557,910,352 - 57,919,367 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx559,890,433 - 59,899,477 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0561,709,247 - 61,718,288 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0561,680,475 - 61,689,515 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0559,156,079 - 59,165,440 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl559,156,071 - 59,165,160 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0563,680,871 - 63,689,832 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4560,136,728 - 60,145,689 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1560,136,908 - 60,145,868 (-)NCBI
Celera556,490,816 - 56,499,835 (-)NCBICelera
Cytogenetic Map5q22NCBI
Fam221b
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955472491,251 - 497,186 (+)EnsemblChiLan1.0
ChiLan1.0NW_004955472489,530 - 497,224 (+)NCBIChiLan1.0ChiLan1.0
FAM221B
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21188,759,831 - 88,772,614 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1988,765,444 - 88,778,449 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0935,668,180 - 35,679,557 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1936,471,284 - 36,481,503 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl936,471,284 - 36,479,018 (-)Ensemblpanpan1.1panPan2
FAM221B
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11152,348,496 - 52,351,671 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1152,348,231 - 52,356,719 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1150,916,067 - 50,926,709 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01153,413,530 - 53,424,163 (-)NCBIROS_Cfam_1.0
UMICH_Zoey_3.11151,958,021 - 51,968,655 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01151,942,458 - 51,953,090 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01152,643,704 - 52,654,337 (-)NCBIUU_Cfam_GSD_1.0
LOC101958294
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404947167,253,952 - 167,268,890 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365243,801,532 - 3,803,929 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0 EnsemblNW_0049365243,807,494 - 3,813,535 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365243,807,426 - 3,816,391 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
FAM221B
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1236,539,262 - 236,547,959 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11236,538,172 - 236,551,064 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21264,264,273 - 264,276,193 (-)NCBISscrofa10.2Sscrofa10.2susScr3
FAM221B
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11244,775,909 - 44,787,061 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1244,779,001 - 44,787,022 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603841,880,802 - 41,891,810 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Fam221b
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248684,956,480 - 4,967,751 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in FAM221B
35 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000050348] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3 copy number gain See cases [RCV000050357] Chr9:204193..38815478 [GRCh38]
Chr9:204193..38815475 [GRCh37]
Chr9:194193..38805475 [NCBI36]
Chr9:9p24.3-13.1		 pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 9p24.3-13.1(chr9:204193-38741440)x3 copy number gain See cases [RCV000051106] Chr9:204193..38741440 [GRCh38]
Chr9:204193..38741437 [GRCh37]
Chr9:194193..38731437 [NCBI36]
Chr9:9p24.3-13.1		 pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:203993-38815619)x3 copy number gain See cases [RCV000053703] Chr9:203993..38815619 [GRCh38]
Chr9:203993..38815616 [GRCh37]
Chr9:193993..38805616 [NCBI36]
Chr9:9p24.3-13.1		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124532)x3 copy number gain See cases [RCV000053745] Chr9:193412..138124532 [GRCh38]
Chr9:204193..141018984 [GRCh37]
Chr9:194193..140138805 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3 copy number gain See cases [RCV000053746] Chr9:193412..138114463 [GRCh38]
Chr9:214367..141008915 [GRCh37]
Chr9:204367..140128736 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:220253-38815419)x3 copy number gain See cases [RCV000053747] Chr9:220253..38815419 [GRCh38]
Chr9:220253..38815416 [GRCh37]
Chr9:210253..38805416 [NCBI36]
Chr9:9p24.3-13.1		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|See cases [RCV000053748] Chr9:193412..138179445 [GRCh38]
Chr9:266045..141073897 [GRCh37]
Chr9:256045..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
NM_001012446.3(FAM221B):c.789C>T (p.Phe263=) single nucleotide variant Malignant melanoma [RCV000068657] Chr9:35819954 [GRCh38]
Chr9:35819951 [GRCh37]
Chr9:35809951 [NCBI36]
Chr9:9p13.3		 not provided
NM_001012446.3(FAM221B):c.4G>A (p.Glu2Lys) single nucleotide variant Malignant melanoma [RCV000068658] Chr9:35826158 [GRCh38]
Chr9:35826155 [GRCh37]
Chr9:35816155 [NCBI36]
Chr9:9p13.3		 not provided
GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445) copy number gain See cases [RCV000133791] Chr9:204193..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p13.3-13.1(chr9:33225730-38529813)x3 copy number gain See cases [RCV000133829] Chr9:33225730..38529813 [GRCh38]
Chr9:33225728..38529810 [GRCh37]
Chr9:33215728..38519810 [NCBI36]
Chr9:9p13.3-13.1		 pathogenic
GRCh38/hg38 9p13.3-13.1(chr9:35623500-38815474)x3 copy number gain See cases [RCV000134038] Chr9:35623500..38815474 [GRCh38]
Chr9:35623497..38815471 [GRCh37]
Chr9:35613497..38805471 [NCBI36]
Chr9:9p13.3-13.1		 pathogenic
GRCh38/hg38 9p24.3-q21.11(chr9:13997-68401065)x3 copy number gain See cases [RCV000135344] Chr9:13997..68401065 [GRCh38]
Chr9:13997..71015981 [GRCh37]
Chr9:3997..70205801 [NCBI36]
Chr9:9p24.3-q21.11		 pathogenic
GRCh38/hg38 9p13.3-13.2(chr9:33572681-36782015)x1 copy number loss See cases [RCV000134762] Chr9:33572681..36782015 [GRCh38]
Chr9:33572679..36782012 [GRCh37]
Chr9:33562679..36772012 [NCBI36]
Chr9:9p13.3-13.2		 pathogenic
GRCh38/hg38 9p24.3-q21.12(chr9:193412-70630731)x3 copy number gain See cases [RCV000136152] Chr9:193412..70630731 [GRCh38]
Chr9:220253..73245647 [GRCh37]
Chr9:210253..72435467 [NCBI36]
Chr9:9p24.3-q21.12		 pathogenic
GRCh38/hg38 9p24.3-q21.13(chr9:193412-74615913)x3 copy number gain See cases [RCV000135954] Chr9:193412..74615913 [GRCh38]
Chr9:204193..77230829 [GRCh37]
Chr9:194193..76420649 [NCBI36]
Chr9:9p24.3-q21.13		 pathogenic
GRCh38/hg38 9p24.1-13.2(chr9:7162304-37038771)x3 copy number gain See cases [RCV000137741] Chr9:7162304..37038771 [GRCh38]
Chr9:7162304..37038768 [GRCh37]
Chr9:7152304..37028768 [NCBI36]
Chr9:9p24.1-13.2		 pathogenic
GRCh38/hg38 9p24.3-q21.11(chr9:204104-66233120)x4 copy number gain See cases [RCV000137888] Chr9:204104..66233120 [GRCh38]
Chr9:204104..47212321 [GRCh37]
Chr9:194104..47002141 [NCBI36]
Chr9:9p24.3-q21.11		 pathogenic|conflicting data from submitters
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3 copy number gain See cases [RCV000138783] Chr9:193412..138124524 [GRCh38]
Chr9:204090..141018976 [GRCh37]
Chr9:194090..140138797 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q21.11(chr9:204104-67549861)x3 copy number gain See cases [RCV000139208] Chr9:204104..67549861 [GRCh38]
Chr9:204104..66516698 [GRCh37]
Chr9:194104..66256518 [NCBI36]
Chr9:9p24.3-q21.11		 pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:204104-38768294)x3 copy number gain See cases [RCV000139126] Chr9:204104..38768294 [GRCh38]
Chr9:204104..38768291 [GRCh37]
Chr9:194104..38758291 [NCBI36]
Chr9:9p24.3-13.1		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000138962] Chr9:193412..138159073 [GRCh38]
Chr9:204104..141053525 [GRCh37]
Chr9:194104..140173346 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic|conflicting data from submitters
GRCh38/hg38 9p22.2-q21.11(chr9:18344605-68257015) copy number gain See cases [RCV000140448] Chr9:18344605..68257015 [GRCh38]
Chr9:18344603..68995221 [GRCh37]
Chr9:18334603..68285041 [NCBI36]
Chr9:9p22.2-q21.11		 pathogenic
GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4 copy number gain See cases [RCV000141904] Chr9:203861..88130444 [GRCh38]
Chr9:203861..90745359 [GRCh37]
Chr9:193861..89935179 [NCBI36]
Chr9:9p24.3-q22.1		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3 copy number gain See cases [RCV000141876] Chr9:203861..138125937 [GRCh38]
Chr9:203861..141020389 [GRCh37]
Chr9:193861..140140210 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p21.1-q21.11(chr9:31426827-68257015)x3 copy number gain See cases [RCV000141663] Chr9:31426827..68257015 [GRCh38]
Chr9:31426825..68330127 [GRCh37]
Chr9:31416825..67819947 [NCBI36]
Chr9:9p21.1-q21.11		 pathogenic
GRCh38/hg38 9p21.1-13.1(chr9:28975663-38787483)x3 copy number gain See cases [RCV000142317] Chr9:28975663..38787483 [GRCh38]
Chr9:28975661..38787480 [GRCh37]
Chr9:28965661..38777480 [NCBI36]
Chr9:9p21.1-13.1		 likely pathogenic
GRCh38/hg38 9p24.3-q21.31(chr9:193412-79877816)x3 copy number gain See cases [RCV000143012] Chr9:193412..79877816 [GRCh38]
Chr9:204104..82492731 [GRCh37]
Chr9:194104..81682551 [NCBI36]
Chr9:9p24.3-q21.31		 pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:203861-38381642) copy number gain See cases [RCV000143411] Chr9:203861..38381642 [GRCh38]
Chr9:203861..38381639 [GRCh37]
Chr9:193861..38371639 [NCBI36]
Chr9:9p24.3-13.1		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3 copy number gain See cases [RCV000143476] Chr9:203862..138125937 [GRCh38]
Chr9:203862..141020389 [GRCh37]
Chr9:193862..140140210 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000148113] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3 copy number gain See cases [RCV000148159] Chr9:204193..38815478 [GRCh38]
Chr9:204193..38815475 [GRCh37]
Chr9:194193..38805475 [NCBI36]
Chr9:9p24.3-13.1		 pathogenic
GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000139207] Chr9:193412..138159073 [GRCh38]
Chr9:68420641..141053525 [GRCh37]
Chr9:67910461..140173346 [NCBI36]
Chr9:9p11.2-q34.3		 pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:163131-38763958)x3 copy number gain See cases [RCV000240201] Chr9:163131..38763958 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
GRCh37/hg19 9p24.3-11.2(chr9:213161-47212321)x4 copy number gain See cases [RCV000240048] Chr9:213161..47212321 [GRCh37]
Chr9:9p24.3-11.2		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3 copy number gain See cases [RCV000240081] Chr9:163131..141122114 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:213161-39092820)x3 copy number gain See cases [RCV000239869] Chr9:213161..39092820 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
GRCh37/hg19 9p22.1-q33.1(chr9:19356861-119513311) copy number loss Distal tetrasomy 15q [RCV002280776] Chr9:19356861..119513311 [GRCh37]
Chr9:9p22.1-q33.1		 uncertain significance
GRCh37/hg19 9p24.3-q13(chr9:203861-68188391)x4 copy number gain See cases [RCV000449165] Chr9:203861..68188391 [GRCh37]
Chr9:9p24.3-q13		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407) copy number gain See cases [RCV000449375] Chr9:62525..141006407 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3 copy number gain not specified [RCV003986800] Chr9:203861..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:32396-39140211) copy number gain See cases [RCV000447246] Chr9:32396..39140211 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-67983174)x4 copy number gain See cases [RCV000446521] Chr9:203861..67983174 [GRCh37]
Chr9:9p24.3-q13		 pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:13997-70919878)x4 copy number gain See cases [RCV000448242] Chr9:13997..70919878 [GRCh37]
Chr9:9p24.3-q21.11		 pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:203861-69002883)x3 copy number gain See cases [RCV000448569] Chr9:203861..69002883 [GRCh37]
Chr9:9p24.3-q21.11		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203864-141020389)x3 copy number gain See cases [RCV000448978] Chr9:203864..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480)x3 copy number gain See cases [RCV000510864] Chr9:203861..38787480 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
NM_001012446.4(FAM221B):c.262C>T (p.Pro88Ser) single nucleotide variant Inborn genetic diseases [RCV003246291] Chr9:35825900 [GRCh38]
Chr9:35825897 [GRCh37]
Chr9:9p13.3		 uncertain significance
GRCh37/hg19 9p24.3-11.2(chr9:204193-44259464)x4 copy number gain Syndromic hydrocephalus due to diffuse villous hyperplasia of choroid plexus [RCV000677299] Chr9:204193..44259464 [GRCh37]
Chr9:9p24.3-11.2		 likely pathogenic
NM_001012446.4(FAM221B):c.834A>C (p.Arg278Ser) single nucleotide variant Inborn genetic diseases [RCV003283221] Chr9:35819909 [GRCh38]
Chr9:35819906 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_001012446.4(FAM221B):c.12T>G (p.His4Gln) single nucleotide variant Inborn genetic diseases [RCV003280071] Chr9:35826150 [GRCh38]
Chr9:35826147 [GRCh37]
Chr9:9p13.3		 uncertain significance
GRCh37/hg19 9p24.3-q21.33(chr9:203861-88189913)x3 copy number gain See cases [RCV000512431] Chr9:203861..88189913 [GRCh37]
Chr9:9p24.3-q21.33		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389) copy number gain See cases [RCV000512392] Chr9:203862..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-67983174)x4 copy number gain not provided [RCV000683173] Chr9:203861..67983174 [GRCh37]
Chr9:9p24.3-q13		 pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480)x3 copy number gain not provided [RCV000683172] Chr9:203861..38787480 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
GRCh37/hg19 9p24.3-q21.12(chr9:203861-72717793)x3 copy number gain not provided [RCV000683176] Chr9:203861..72717793 [GRCh37]
Chr9:9p24.3-q21.12		 pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-68262804)x3,4 copy number gain not provided [RCV000683174] Chr9:203861..68262804 [GRCh37]
Chr9:9p24.3-q13		 pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:203861-70985795)x4 copy number gain not provided [RCV000683175] Chr9:203861..70985795 [GRCh37]
Chr9:9p24.3-q21.11		 pathogenic
NC_000009.11:g.(?_34645556)_(36277059_?)dup duplication Anauxetic dysplasia [RCV000708053] Chr9:34645559..36277062 [GRCh38]
Chr9:34645556..36277059 [GRCh37]
Chr9:9p13.3		 uncertain significance
NC_000009.11:g.(?_34458984)_(36277059_?)dup duplication Autosomal recessive distal spinal muscular atrophy 2 [RCV000708492] Chr9:34458984..36277059 [GRCh37]
Chr9:9p13.3		 uncertain significance
Single allele complex Glioma [RCV000754871] Chr9:23524426..87359888 [GRCh37]
Chr9:9p21.3-q21.33		 likely pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141122247)x3 copy number gain not provided [RCV000748055] Chr9:10590..141122247 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141107672)x3 copy number gain not provided [RCV000748053] Chr9:10590..141107672 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:46587-141066491)x3 copy number gain not provided [RCV000748063] Chr9:46587..141066491 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141114095)x2 copy number gain not provided [RCV000748054] Chr9:10590..141114095 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:214309-39156958) copy number gain not provided [RCV000767644] Chr9:214309..39156958 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3 copy number gain not provided [RCV000845900] Chr9:203861..141020388 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-67986965)x3 copy number gain not provided [RCV000845815] Chr9:203861..67986965 [GRCh37]
Chr9:9p24.3-q13		 pathogenic
GRCh37/hg19 9p13.3-q13(chr9:34542635-68210033)x3 copy number gain not provided [RCV000849826] Chr9:34542635..68210033 [GRCh37]
Chr9:9p13.3-q13		 pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:203861-38472979)x3 copy number gain not provided [RCV000848175] Chr9:203861..38472979 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
NM_001012446.4(FAM221B):c.1136C>T (p.Thr379Ile) single nucleotide variant Inborn genetic diseases [RCV003251184] Chr9:35818925 [GRCh38]
Chr9:35818922 [GRCh37]
Chr9:9p13.3		 uncertain significance
GRCh37/hg19 9p13.3-13.2(chr9:35059633-37660586)x1 copy number loss Neurodevelopmental disorder [RCV001580195] Chr9:35059633..37660586 [GRCh37]
Chr9:9p13.3-13.2		 pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:203861-70984588)x3 copy number gain not provided [RCV001006167] Chr9:203861..70984588 [GRCh37]
Chr9:9p24.3-q21.11		 pathogenic
GRCh37/hg19 9p21.1-13.2(chr9:32192406-38311776)x3 copy number gain not provided [RCV001259519] Chr9:32192406..38311776 [GRCh37]
Chr9:9p21.1-13.2		 likely pathogenic
NC_000009.11:g.(?_35683146)_(36277049_?)dup duplication Arthrogryposis, distal, type 1A [RCV001345686] Chr9:35683146..36277049 [GRCh37]
Chr9:9p13.3		 uncertain significance
NC_000009.11:g.(?_34459004)_(36276941_?)del deletion Hyperphosphatasia with intellectual disability syndrome 2 [RCV001382817] Chr9:34459004..36276941 [GRCh37]
Chr9:9p13.3		 pathogenic
NC_000009.11:g.12246100_101559378inv inversion Recurrent spontaneous abortion [RCV000999471] Chr9:12246100..101559378 [GRCh37]
Chr9:9p23-q22.33		 likely pathogenic
NC_000009.11:g.(?_32453279)_(37785041_?)dup duplication Acromesomelic dysplasia 1, Maroteaux type [RCV003109230]|Arthrogryposis, distal, type 1A [RCV003119438]|Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV003119437]|Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV003109231]|Primary ciliary dyskinesia [RCV003119439]|not provided [RCV003154083] Chr9:32453279..37785041 [GRCh37]
Chr9:9p21.1-13.2		 uncertain significance|no classifications from unflagged records
GRCh37/hg19 9p24.3-q13(chr9:203861-67986965) copy number gain Tetrasomy 9p [RCV002280656] Chr9:203861..67986965 [GRCh37]
Chr9:9p24.3-q13		 pathogenic
GRCh37/hg19 9p24.3-q21.32(chr9:203861-84155399) copy number gain not specified [RCV002053820] Chr9:203861..84155399 [GRCh37]
Chr9:9p24.3-q21.32		 pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:203861-69002883) copy number gain not specified [RCV002053819] Chr9:203861..69002883 [GRCh37]
Chr9:9p24.3-q21.11		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389) copy number gain not specified [RCV002053823] Chr9:353349..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480) copy number gain not specified [RCV002053818] Chr9:203861..38787480 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
NC_000009.11:g.(?_34459004)_(36276941_?)dup duplication Hyperphosphatasia with intellectual disability syndrome 2 [RCV001933515] Chr9:34459004..36276941 [GRCh37]
Chr9:9p13.3		 uncertain significance
NC_000009.11:g.(?_34370797)_(36276941_?)dup duplication Anauxetic dysplasia [RCV003114124] Chr9:34370797..36276941 [GRCh37]
Chr9:9p13.3		 uncertain significance
GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3 copy number gain See cases [RCV002292402] Chr9:203861..131603223 [GRCh37]
Chr9:9p24.3-q34.11		 pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-68342786) copy number gain Bradycardia [RCV002280662] Chr9:203861..68342786 [GRCh37]
Chr9:9p24.3-q13		 pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:48827-39154913)x3 copy number gain Syndromic anorectal malformation [RCV002286608] Chr9:48827..39154913 [GRCh37]
Chr9:9p24.3-13.1		 likely pathogenic
GRCh37/hg19 9p24.3-13.3(chr9:203861-35903398)x3 copy number gain MISSED ABORTION [RCV002282974] Chr9:203861..35903398 [GRCh37]
Chr9:9p24.3-13.3		 pathogenic
NM_001012446.4(FAM221B):c.1091C>T (p.Ala364Val) single nucleotide variant Inborn genetic diseases [RCV002687977] Chr9:35818970 [GRCh38]
Chr9:35818967 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_001012446.4(FAM221B):c.258G>C (p.Glu86Asp) single nucleotide variant Inborn genetic diseases [RCV002688287] Chr9:35825904 [GRCh38]
Chr9:35825901 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_001012446.4(FAM221B):c.791G>A (p.Arg264Gln) single nucleotide variant Inborn genetic diseases [RCV002758888] Chr9:35819952 [GRCh38]
Chr9:35819949 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_001012446.4(FAM221B):c.967C>T (p.Pro323Ser) single nucleotide variant Inborn genetic diseases [RCV002869536] Chr9:35819281 [GRCh38]
Chr9:35819278 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_001012446.4(FAM221B):c.452G>A (p.Ser151Asn) single nucleotide variant Inborn genetic diseases [RCV002950190] Chr9:35825710 [GRCh38]
Chr9:35825707 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_001012446.4(FAM221B):c.1168C>T (p.Arg390Cys) single nucleotide variant Inborn genetic diseases [RCV002977589] Chr9:35818893 [GRCh38]
Chr9:35818890 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_001012446.4(FAM221B):c.367A>G (p.Thr123Ala) single nucleotide variant Inborn genetic diseases [RCV002915594] Chr9:35825795 [GRCh38]
Chr9:35825792 [GRCh37]
Chr9:9p13.3		 likely benign
NM_001012446.4(FAM221B):c.662T>G (p.Met221Arg) single nucleotide variant Inborn genetic diseases [RCV002768355] Chr9:35825310 [GRCh38]
Chr9:35825307 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_001012446.4(FAM221B):c.350G>A (p.Cys117Tyr) single nucleotide variant Inborn genetic diseases [RCV002987043] Chr9:35825812 [GRCh38]
Chr9:35825809 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_001012446.4(FAM221B):c.806C>T (p.Ser269Phe) single nucleotide variant Inborn genetic diseases [RCV002742844] Chr9:35819937 [GRCh38]
Chr9:35819934 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_001012446.4(FAM221B):c.148G>C (p.Glu50Gln) single nucleotide variant Inborn genetic diseases [RCV002742843] Chr9:35826014 [GRCh38]
Chr9:35826011 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_001012446.4(FAM221B):c.347T>A (p.Val116Asp) single nucleotide variant Inborn genetic diseases [RCV002786976] Chr9:35825815 [GRCh38]
Chr9:35825812 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_001012446.4(FAM221B):c.77C>G (p.Ser26Cys) single nucleotide variant Inborn genetic diseases [RCV002708593] Chr9:35826085 [GRCh38]
Chr9:35826082 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_001012446.4(FAM221B):c.1148G>A (p.Arg383Gln) single nucleotide variant Inborn genetic diseases [RCV002765286] Chr9:35818913 [GRCh38]
Chr9:35818910 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_001012446.4(FAM221B):c.340G>T (p.Asp114Tyr) single nucleotide variant Inborn genetic diseases [RCV002891707] Chr9:35825822 [GRCh38]
Chr9:35825819 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_001012446.4(FAM221B):c.23A>T (p.Glu8Val) single nucleotide variant Inborn genetic diseases [RCV002712189] Chr9:35826139 [GRCh38]
Chr9:35826136 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_001012446.4(FAM221B):c.583C>T (p.Pro195Ser) single nucleotide variant Inborn genetic diseases [RCV002665711] Chr9:35825579 [GRCh38]
Chr9:35825576 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_001012446.4(FAM221B):c.943C>G (p.Leu315Val) single nucleotide variant Inborn genetic diseases [RCV002827439] Chr9:35819305 [GRCh38]
Chr9:35819302 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_001012446.4(FAM221B):c.831G>T (p.Leu277Phe) single nucleotide variant Inborn genetic diseases [RCV002669144] Chr9:35819912 [GRCh38]
Chr9:35819909 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_001012446.4(FAM221B):c.844A>G (p.Ile282Val) single nucleotide variant Inborn genetic diseases [RCV002674514] Chr9:35819899 [GRCh38]
Chr9:35819896 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_001012446.4(FAM221B):c.16A>G (p.Ile6Val) single nucleotide variant Inborn genetic diseases [RCV002748022] Chr9:35826146 [GRCh38]
Chr9:35826143 [GRCh37]
Chr9:9p13.3		 likely benign
NM_001012446.4(FAM221B):c.453C>A (p.Ser151Arg) single nucleotide variant Inborn genetic diseases [RCV003280754] Chr9:35825709 [GRCh38]
Chr9:35825706 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_001012446.4(FAM221B):c.965A>C (p.Asp322Ala) single nucleotide variant Inborn genetic diseases [RCV003210056] Chr9:35819283 [GRCh38]
Chr9:35819280 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_001012446.4(FAM221B):c.821G>T (p.Gly274Val) single nucleotide variant Inborn genetic diseases [RCV003190758] Chr9:35819922 [GRCh38]
Chr9:35819919 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_001012446.4(FAM221B):c.676T>C (p.Phe226Leu) single nucleotide variant Inborn genetic diseases [RCV003212663] Chr9:35825296 [GRCh38]
Chr9:35825293 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_001012446.4(FAM221B):c.10C>T (p.His4Tyr) single nucleotide variant Inborn genetic diseases [RCV003344309] Chr9:35826152 [GRCh38]
Chr9:35826149 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_001012446.4(FAM221B):c.773A>G (p.Tyr258Cys) single nucleotide variant Inborn genetic diseases [RCV003347688] Chr9:35819970 [GRCh38]
Chr9:35819967 [GRCh37]
Chr9:9p13.3		 uncertain significance
GRCh37/hg19 9p24.3-13.1(chr9:1475882-38771831)x3 copy number gain not provided [RCV003484765] Chr9:1475882..38771831 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
GRCh37/hg19 9p13.3-13.1(chr9:35440393-38787480)x1 copy number loss not specified [RCV003986844] Chr9:35440393..38787480 [GRCh37]
Chr9:9p13.3-13.1		 likely pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3112
Count of miRNA genes:892
Interacting mature miRNAs:1059
Transcripts:ENST00000377984, ENST00000388950, ENST00000423537, ENST00000472182
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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.

Markers in Region
D9S1165  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37935,828,181 - 35,828,693UniSTSGRCh37
Build 36935,818,181 - 35,818,693RGDNCBI36
Celera935,761,713 - 35,762,225RGD
Cytogenetic Map9p13.3UniSTS
HuRef935,784,121 - 35,784,634UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

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 adipose tissue appendage entire extraembryonic component
High
Medium 321
Low 90 31 143 24 12 8 4 48 32 301 92 131 1 5
Below cutoff 2139 2326 1590 401 1188 376 3760 1973 3564 322 691 1433 35 925 2477 3

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001012446 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_052026 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006716768 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447541 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447542 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423370 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423371 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362955 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362956 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362957 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362958 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362959 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362960 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF334830 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL133410 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC144503 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC146808 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX648702 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471071 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068269 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000377984   ⟹   ENSP00000367222
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl935,819,344 - 35,828,579 (-)Ensembl
RefSeq Acc Id: ENST00000388950   ⟹   ENSP00000373602
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl935,816,391 - 35,828,747 (-)Ensembl
RefSeq Acc Id: ENST00000423537   ⟹   ENSP00000415299
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl935,816,391 - 35,828,732 (-)Ensembl
RefSeq Acc Id: ENST00000472182   ⟹   ENSP00000420279
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl935,825,891 - 35,828,732 (-)Ensembl
RefSeq Acc Id: NM_001012446   ⟹   NP_001012448
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38935,816,391 - 35,828,732 (-)NCBI
GRCh37935,817,014 - 35,833,372 (-)NCBI
Build 36935,808,429 - 35,818,744 (-)NCBI Archive
Celera935,750,546 - 35,762,276 (-)RGD
HuRef935,773,026 - 35,784,685 (-)ENTREZGENE
CHM1_1935,817,402 - 35,829,132 (-)NCBI
T2T-CHM13v2.0935,837,059 - 35,849,403 (-)NCBI
Sequence:
RefSeq Acc Id: NR_052026
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38935,816,391 - 35,828,732 (-)NCBI
GRCh37935,817,014 - 35,833,372 (-)NCBI
HuRef935,773,026 - 35,784,685 (-)NCBI
CHM1_1935,817,402 - 35,829,132 (-)NCBI
T2T-CHM13v2.0935,837,059 - 35,849,403 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006716768   ⟹   XP_006716831
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38935,818,430 - 35,828,732 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024447541   ⟹   XP_024303309
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38935,816,391 - 35,828,732 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024447542   ⟹   XP_024303310
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38935,816,391 - 35,828,732 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047423370   ⟹   XP_047279326
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38935,818,430 - 35,828,732 (-)NCBI
RefSeq Acc Id: XM_047423371   ⟹   XP_047279327
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38935,818,430 - 35,828,732 (-)NCBI
RefSeq Acc Id: XM_054362955   ⟹   XP_054218930
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0935,839,098 - 35,849,403 (-)NCBI
RefSeq Acc Id: XM_054362956   ⟹   XP_054218931
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0935,839,098 - 35,849,403 (-)NCBI
RefSeq Acc Id: XM_054362957   ⟹   XP_054218932
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0935,837,059 - 35,847,605 (-)NCBI
RefSeq Acc Id: XM_054362958   ⟹   XP_054218933
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0935,839,098 - 35,849,403 (-)NCBI
RefSeq Acc Id: XM_054362959   ⟹   XP_054218934
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0935,837,059 - 35,849,403 (-)NCBI
RefSeq Acc Id: XM_054362960   ⟹   XP_054218935
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0935,837,059 - 35,849,403 (-)NCBI
Reference Protein Sequences
RefSeq Acc Id: NP_001012448   ⟸   NM_001012446
- UniProtKB: Q5TCW2 (UniProtKB/Swiss-Prot),   A6H8Z2 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_006716831   ⟸   XM_006716768
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_024303310   ⟸   XM_024447542
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_024303309   ⟸   XM_024447541
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: ENSP00000415299   ⟸   ENST00000423537
RefSeq Acc Id: ENSP00000373602   ⟸   ENST00000388950
RefSeq Acc Id: ENSP00000367222   ⟸   ENST00000377984
RefSeq Acc Id: ENSP00000420279   ⟸   ENST00000472182
RefSeq Acc Id: XP_047279326   ⟸   XM_047423370
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047279327   ⟸   XM_047423371
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054218935   ⟸   XM_054362960
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054218934   ⟸   XM_054362959
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054218932   ⟸   XM_054362957
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054218930   ⟸   XM_054362955
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054218933   ⟸   XM_054362958
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054218931   ⟸   XM_054362956
- Peptide Label: isoform X1

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-A6H8Z2-F1-model_v2 AlphaFold A6H8Z2 1-402 view protein structure

Promoters
RGD ID:6807317
Promoter ID:HG_KWN:63121
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000358856,   ENST00000360192,   ENST00000388950,   NM_001012446,   NM_001042589,   NM_001042590,   NM_016446,   OTTHUMT00000052368,   OTTHUMT00000052369,   OTTHUMT00000052370,   OTTHUMT00000052371,   OTTHUMT00000052373,   UC003ZYL.1,   UC003ZYN.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36935,818,641 - 35,819,752 (+)MPROMDB
RGD ID:7215049
Promoter ID:EPDNEW_H13271
Type:initiation region
Name:FAM221B_2
Description:family with sequence similarity 221 member B
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H13274  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38935,828,732 - 35,828,792EPDNEW
RGD ID:7215057
Promoter ID:EPDNEW_H13274
Type:multiple initiation site
Name:FAM221B_1
Description:family with sequence similarity 221 member B
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H13271  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38935,833,872 - 35,833,932EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:30762 AgrOrtholog
COSMIC FAM221B COSMIC
Ensembl Genes ENSG00000204930 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000377984.2 UniProtKB/TrEMBL
  ENST00000388950 ENTREZGENE
  ENST00000388950.8 UniProtKB/Swiss-Prot
  ENST00000423537 ENTREZGENE
  ENST00000423537.7 UniProtKB/Swiss-Prot
  ENST00000472182.1 UniProtKB/TrEMBL
GTEx ENSG00000204930 GTEx
HGNC ID HGNC:30762 ENTREZGENE
Human Proteome Map FAM221B Human Proteome Map
InterPro Fam221a/b UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:392307 UniProtKB/Swiss-Prot
NCBI Gene 392307 ENTREZGENE
PANTHER PROTEIN FAM221B UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR31214 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam FAM221 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134925958 PharmGKB
UniProt A6H8Z2 ENTREZGENE
  C9JPK8_HUMAN UniProtKB/TrEMBL
  F221B_HUMAN UniProtKB/Swiss-Prot
  F8W8N9_HUMAN UniProtKB/TrEMBL
  Q5TCW2 ENTREZGENE
UniProt Secondary Q5TCW2 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-24 FAM221B  family with sequence similarity 221 member B    family with sequence similarity 221, member B  Symbol and/or name change 5135510 APPROVED
2012-04-24 FAM221B  family with sequence similarity 221, member B  C9orf128  chromosome 9 open reading frame 128  Symbol and/or name change 5135510 APPROVED